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 9260177 9260177 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 9260177 9260177 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.822 p.D274 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 rs202126909 - 69 0 0.00 101 19 15.83 AADAT 0 genome.wustl.edu 37 4 171009608 171009608 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 171009608 171009608 T C SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.187 p.K63E 0.355 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 tier1 - - 74 0 0.00 93 12 11.43 AARS2 0 genome.wustl.edu 37 6 44272926 44272926 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 44272926 44272926 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.1444 p.R482W 0.400 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 112 0 0.00 81 13 13.83 ABCA1 0 genome.wustl.edu 37 9 107624012 107624012 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 107624012 107624012 A 0 DEL ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_del c.491 p.L164fs 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 113 0 0.00 123 11 8.21 ABCA7 0 genome.wustl.edu 37 19 1054032 1054032 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 1054032 1054032 C - DEL ABCA7 ENST00000263094 human ensembl 74_37 +1 known frame_shift_del c.3500 p.T1167fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 136 0 0.00 98 17 14.78 ABCB6 0 genome.wustl.edu 37 2 220081103 220081103 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 220081103 220081103 C - DEL ABCB6 ENST00000265316 human ensembl 74_37 -1 known frame_shift_del c.953 p.G318fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 44 0 0.00 38 8 17.39 ABCB9 0 genome.wustl.edu 37 12 123444645 123444645 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 123444645 123444645 C T SNP ABCB9 ENST00000442028 human ensembl 74_37 -1 known silent c.138 p.S46 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 tier1 - - 75 0 0.00 65 20 23.53 ABCC3 0 genome.wustl.edu 37 17 48736628 48736630 + In_Frame_Del DEL GGA GGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 48736628 48736630 GGA - DEL ABCC3 ENST00000285238 human ensembl 74_37 +1 known in_frame_del c.705_707 p.E237in_frame_del 1.000:1.000:0.998 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 71 0 0.00 63 8 11.27 ABCC9 0 genome.wustl.edu 37 12 22005400 22005400 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 22005400 22005400 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2545 p.H849N 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 87 0 0.00 113 18 13.74 ABL1 0 genome.wustl.edu 37 9 133738377 133738377 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 133738377 133738377 C T SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.834 p.G278 0.056 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 - - 47 0 0.00 51 11 17.74 ACAD9 0 genome.wustl.edu 37 3 128618207 128618207 + Silent SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 128618207 128618207 A C SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known silent c.711 p.S237 0.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 tier1 - - 122 0 0.00 91 23 20.18 ACP5 0 genome.wustl.edu 37 19 11686001 11686001 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 11686001 11686001 T G SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known missense c.802 p.K268Q 0.000 NULL pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 tier1 - - 58 0 0.00 48 24 33.33 ACRBP 0 genome.wustl.edu 37 12 6753399 6753399 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 6753399 6753399 T A SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.848 p.E283V 0.996 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 tier1 - - 83 0 0.00 87 41 32.03 ACSL3 0 genome.wustl.edu 37 2 223783810 223783810 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 223783810 223783810 G A SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.695 p.R232Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 tier1 - - 49 0 0.00 30 7 18.92 ACSM3 0 genome.wustl.edu 37 16 20807776 20807776 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 20807776 20807776 A - DEL ACSM3 ENST00000289416 human ensembl 74_37 +1 known frame_shift_del c.1639 p.T549fs 0.991 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 tier1 74 0 0.00 68 14 17.07 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 107 0 0.00 93 45 32.61 ACVRL1 0 genome.wustl.edu 37 12 52307539 52307539 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 52307539 52307539 C T SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known silent c.552 p.G184 0.988 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 tier1 - - 44 0 0.00 36 4 10.00 ADAM22 0 genome.wustl.edu 37 7 87759724 87759724 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 87759724 87759724 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.775 p.V259I 0.992 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 131 0 0.00 143 19 11.73 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 112 0 0.00 106 11 9.40 ADAM29 0 genome.wustl.edu 37 4 175898675 175898675 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 175898675 175898675 C - DEL ADAM29 ENST00000359240 human ensembl 74_37 +1 known frame_shift_del c.1999 p.P668fs 0.398 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 71 0 0.00 45 21 31.82 ADAT3 0 genome.wustl.edu 37 19 1913106 1913106 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 1913106 1913106 G A SNP ADAT3 ENST00000329478 human ensembl 74_37 +1 known missense c.1060 p.G354R 0.996 superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT3 HGNC ENSG00000213638 tier1 - - 22 0 0.00 8 5 38.46 ADCY6 0 genome.wustl.edu 37 12 49176915 49176915 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 49176915 49176915 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known silent c.303 p.G101 0.012 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 tier1 - - 98 0 0.00 72 5 6.41 ADD2 0 genome.wustl.edu 37 2 70933424 70933424 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 70933424 70933424 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.117 p.A39 0.001 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 rs141187526 - 57 0 0.00 66 9 12.00 ADM 0 genome.wustl.edu 37 11 10327963 10327964 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 10327963 10327964 - T INS ADM ENST00000278175 human ensembl 74_37 +1 known frame_shift_ins c.333_334 p.G112fs 0.995:1.000 pfam_Procalcitonin/adrenomedullin,prints_Adrenomedullin pfam_Procalcitonin/adrenomedullin,prints_Adrenomedullin - no_errors ADM HGNC ENSG00000148926 tier1 69 0 0.00 54 10 15.62 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 105 0 0.00 122 16 11.59 AFF1 0 genome.wustl.edu 37 4 88053452 88053452 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 88053452 88053452 C T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.3203 p.A1068V 0.986 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 tier1 - - 81 0 0.00 104 13 11.11 AFF3 0 genome.wustl.edu 37 2 100210400 100210400 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 100210400 100210400 C A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1798 p.A600S 0.028 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 14 0 0.00 12 9 42.86 AFF4 0 genome.wustl.edu 37 5 132270440 132270440 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 132270440 132270440 C A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.317 p.S106I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 tier1 - - 67 0 0.00 71 13 15.48 AGAP6 0 genome.wustl.edu 37 10 51754188 51754188 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 51754188 51754188 A G SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.326 p.H109R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 tier1 - - 148 0 0.00 177 10 5.35 AGPAT6 0 genome.wustl.edu 37 8 41472560 41472560 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 41472560 41472560 C T SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 tier1 - - 66 0 0.00 42 22 34.38 AGXT 0 genome.wustl.edu 37 2 241808308 241808308 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 241808308 241808308 C - DEL AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_del c.26 p.K12fs 0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 20 0 0.00 16 4 20.00 AHNAK2 0 genome.wustl.edu 37 14 105407425 105407425 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 105407425 105407425 T G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.14363 p.E4788A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 75 0 0.00 70 12 14.46 AHNAK2 0 genome.wustl.edu 37 14 105412665 105412665 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 105412665 105412665 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9123 p.Q3041H 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 241 0 0.00 199 45 18.44 AHNAK2 0 genome.wustl.edu 37 14 105417087 105417087 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 105417087 105417087 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.4701 p.S1567 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 300 0 0.00 227 71 23.83 AHR 0 genome.wustl.edu 37 7 17378635 17378635 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 17378635 17378635 C T SNP AHR ENST00000242057 human ensembl 74_37 +1 known nonsense c.1186 p.R396* 0.951 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 tier1 - - 120 0 0.00 97 43 30.71 AK5 0 genome.wustl.edu 37 1 77883395 77883395 + Missense_Mutation SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 77883395 77883395 G C SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1054 p.D352H 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 53 0 0.00 57 9 13.64 AK9 0 genome.wustl.edu 37 6 109814599 109814600 + Frame_Shift_Del DEL GA GA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 109814599 109814600 GA - DEL AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_del c.5709_5708 p.L1903fs 0.106:0.957 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 153 0 0.00 145 19 11.59 AKAP12 0 genome.wustl.edu 37 6 151673447 151673447 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 151673447 151673447 A G SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.3921 p.E1307 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 53 0 0.00 48 13 21.31 AKAP6 0 genome.wustl.edu 37 14 33291960 33291960 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 33291960 33291960 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.4941 p.E1647 0.995 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 78 0 0.00 62 10 13.89 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 tier1 86 0 0.00 121 24 16.55 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 91603085 91603085 A 0 DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 62 0 0.00 81 9 10.00 ALG5 0 genome.wustl.edu 37 13 37539862 37539862 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 37539862 37539862 C T SNP ALG5 ENST00000239891 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 45 0 0.00 40 10 20.00 ALKBH6 0 genome.wustl.edu 37 19 36503974 36503974 + Nonsense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 36503974 36503974 G T SNP ALKBH6 ENST00000378875 human ensembl 74_37 -1 known nonsense c.156 p.Y52* 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH6 HGNC ENSG00000239382 tier1 - - 98 0 0.00 81 20 19.80 AMBRA1 0 genome.wustl.edu 37 11 46430154 46430154 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 46430154 46430154 G T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.3312 p.T1104 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 63 0 0.00 80 8 9.09 AMHR2 0 genome.wustl.edu 37 12 53819001 53819001 + Silent SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 53819001 53819001 G C SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known silent c.477 p.L159 0.975 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 tier1 - - 90 0 0.00 102 18 15.00 AMZ1 0 genome.wustl.edu 37 7 2748733 2748733 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 2748733 2748733 G A SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known missense c.626 p.R209Q 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 tier1 - - 47 0 0.00 39 8 17.02 ANGPTL4 0 genome.wustl.edu 37 19 8436169 8436169 + Missense_Mutation SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 8436169 8436169 G C SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known missense c.802 p.D268H 0.007 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL4 HGNC ENSG00000167772 tier1 - - 59 0 0.00 51 7 12.07 ANK3 0 genome.wustl.edu 37 10 61829730 61829730 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 61829730 61829730 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10909 p.H3637Y 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 74 0 0.00 70 15 17.65 ANKRD12 0 genome.wustl.edu 37 18 9255444 9255445 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 9255444 9255445 - A INS ANKRD12 ENST00000262126 human ensembl 74_37 +1 known frame_shift_ins c.2179_2180 p.N729fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 38 0 0.00 31 5 13.89 ANKRD24 0 genome.wustl.edu 37 19 4217182 4217182 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 4217182 4217182 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known silent c.2025 p.T675 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 tier1 - - 22 0 0.00 20 6 23.08 ANKS6 0 genome.wustl.edu 37 9 101552503 101552503 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 101552503 101552503 C T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.745 p.A249T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 tier1 - - 87 0 0.00 81 16 16.49 ANO6 0 genome.wustl.edu 37 12 45784249 45784249 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 45784249 45784249 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1354 p.I452V 0.002 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 182 0 0.00 206 37 15.23 ANTXR1 0 genome.wustl.edu 37 2 69379378 69379378 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 69379378 69379378 G A SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known nonsense c.1029 p.W343* 1.000 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 87 0 0.00 79 14 15.05 ANXA7 0 genome.wustl.edu 37 10 75135834 75135834 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 75135834 75135834 A - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ANXA7 HGNC ENSG00000138279 tier1 12 0 0.00 9 5 35.71 AOC1 0 genome.wustl.edu 37 7 150555016 150555016 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 150555016 150555016 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1458 p.H486 0.074 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 105 0 0.00 112 25 18.25 AOC2 0 genome.wustl.edu 37 17 40996941 40996941 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 40996941 40996941 C - DEL AOC2 ENST00000253799 human ensembl 74_37 +1 known frame_shift_del c.298 p.K102fs 1.000 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 tier1 110 0 0.00 115 14 10.85 AOC3 0 genome.wustl.edu 37 17 41004674 41004674 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 41004674 41004674 C - DEL AOC3 ENST00000308423 human ensembl 74_37 +1 known frame_shift_del c.1314 p.L440fs 0.019 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 76 0 0.00 71 11 13.41 AP1S1 0 genome.wustl.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 100802405 100802405 G - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357 p.D122fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 tier1 48 0 0.00 40 16 28.57 AP3M1 0 genome.wustl.edu 37 10 75889761 75889761 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 75889761 75889761 A - DEL AP3M1 ENST00000480373 human ensembl 74_37 -1 known rna NULL NULL 0.127 - - - no_errors AP3M1 HGNC ENSG00000185009 tier1 37 0 0.00 41 6 12.77 ARFGEF2 0 genome.wustl.edu 37 20 47633820 47633820 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 47633820 47633820 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.4350 p.C1450 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 80 0 0.00 99 23 18.85 ARHGAP35 0 genome.wustl.edu 37 19 47503760 47503760 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 47503760 47503760 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.4315 p.R1439W 0.999 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 112 0 0.00 110 25 18.52 ARHGAP36 0 genome.wustl.edu 37 X 130215788 130215788 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 130215788 130215788 T C SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.149 p.V50A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 192 0 0.00 197 31 13.60 ARHGAP39 0 genome.wustl.edu 37 8 145755905 145755905 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 145755905 145755905 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.3246 p.D1082 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 tier1 - - 31 0 0.00 30 4 11.76 ARHGEF10 0 genome.wustl.edu 37 8 1828240 1828240 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 1828240 1828240 G T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.945 p.K315N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 - - 72 0 0.00 77 16 17.20 ARHGEF15 0 genome.wustl.edu 37 17 8216322 8216322 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 8216322 8216322 G 0 DEL ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known frame_shift_del c.684 p.G230fs 0.996 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 124 0 0.00 118 11 8.53 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 71 0 0.00 70 15 17.65 ARID2 0 genome.wustl.edu 37 12 46230405 46230405 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 46230405 46230405 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.739 p.R247C 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 41 0 0.00 48 6 11.11 ARID5A 0 genome.wustl.edu 37 2 97215159 97215159 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 97215159 97215159 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known silent c.222 p.T74 0.995 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 tier1 - - 48 0 0.00 79 16 16.67 ARL10 0 genome.wustl.edu 37 5 175793483 175793483 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 175793483 175793483 G A SNP ARL10 ENST00000310389 human ensembl 74_37 +1 known missense c.284 p.R95H 0.761 pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 tier1 - - 30 0 0.00 27 10 27.03 ARMC3 0 genome.wustl.edu 37 10 23250943 23250943 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 23250943 23250943 A T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.668 p.E223V 0.958 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 - - 50 0 0.00 57 13 18.57 ARMCX1 0 genome.wustl.edu 37 X 100808036 100808036 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 100808036 100808036 C T SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known silent c.123 p.D41 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 tier1 rs150448743 - 37 0 0.00 37 15 28.85 ARNT 0 genome.wustl.edu 37 1 150811990 150811990 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 150811990 150811990 T C SNP ARNT ENST00000358595 human ensembl 74_37 -1 known missense c.413 p.H138R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 tier1 - - 101 0 0.00 117 11 8.59 ARPC1A 0 genome.wustl.edu 37 7 98951600 98951601 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 98951600 98951601 - T INS ARPC1A ENST00000262942 human ensembl 74_37 +1 known frame_shift_ins c.569_570 p.G192fs 1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 tier1 108 0 0.00 103 54 34.39 ARVCF 0 genome.wustl.edu 37 22 19967757 19967757 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 19967757 19967757 T C SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.905 p.E302G 0.976 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 47 0 0.00 31 6 16.22 ASCC3 0 genome.wustl.edu 37 6 101109731 101109731 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 101109731 101109731 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2654 p.P885L 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 190 0 0.00 172 22 11.34 ASPM 0 genome.wustl.edu 37 1 197071525 197071526 + Frame_Shift_Ins INS - - GA TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 197071525 197071526 - GA INS ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_ins c.6856_6855 p.K2285fs 0.096:0.088 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 147 0 0.00 141 19 11.88 ASTE1 0 genome.wustl.edu 37 3 130733047 130733049 + In_Frame_Del DEL TTT TTT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 130733047 130733049 TTT - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known in_frame_del c.1894_1892 p.K631in_frame_del 0.014:0.001:0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 64 0 0.00 71 12 14.46 ASTN2 0 genome.wustl.edu 37 9 119976742 119976742 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 119976742 119976742 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.910 p.R304W 0.955 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 77 0 0.00 84 9 9.47 ASZ1 0 genome.wustl.edu 37 7 117067510 117067510 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 117067510 117067510 G A SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 tier1 - - 53 0 0.00 46 8 14.81 ATAT1 0 genome.wustl.edu 37 6 30610593 30610593 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 30610593 30610593 G A SNP ATAT1 ENST00000376485 human ensembl 74_37 +1 known missense c.773 p.R258H 0.981 NULL pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 tier1 - - 29 0 0.00 22 5 18.52 ATF6B 0 genome.wustl.edu 37 6 32087702 32087702 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 32087702 32087702 G A SNP ATF6B ENST00000375203 human ensembl 74_37 -1 known nonsense c.865 p.R289* 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 tier1 - - 34 0 0.00 23 5 17.86 ATM 0 genome.wustl.edu 37 11 108098416 108098416 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 108098416 108098416 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.65 p.E22G 1.000 pfam_TAN pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 141 0 0.00 165 21 11.29 ATM 0 genome.wustl.edu 37 11 108175550 108175550 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 108175550 108175550 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.5645 p.R1882Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 75 0 0.00 86 36 29.51 ATP1B1 0 genome.wustl.edu 37 1 169076126 169076128 + In_Frame_Del DEL AGA AGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 169076126 169076128 AGA - DEL ATP1B1 ENST00000367815 human ensembl 74_37 +1 known in_frame_del c.59_61 p.K22in_frame_del 1.000:1.000:1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 tier1 35 0 0.00 15 9 37.50 ATP2B2 0 genome.wustl.edu 37 3 10452321 10452321 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 10452321 10452321 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.378 p.P126 0.900 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 198 0 0.00 161 35 17.77 ATP2B3 0 genome.wustl.edu 37 X 152813344 152813344 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 152813344 152813344 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1010 p.A337V 0.969 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 80 0 0.00 82 8 8.89 ATP2B3 0 genome.wustl.edu 37 X 152813423 152813423 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 152813423 152813423 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1089 p.K363 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 91 0 0.00 103 14 11.97 ATP8A2 0 genome.wustl.edu 37 13 26153033 26153033 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 26153033 26153033 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known silent c.1863 p.T621 0.113 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A2 HGNC ENSG00000132932 tier1 - - 82 0 0.00 61 17 21.79 ATR 0 genome.wustl.edu 37 3 142177873 142177873 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 142177873 142177873 T C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7430 p.H2477R 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_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 54 0 0.00 52 12 18.75 AVL9 0 genome.wustl.edu 37 7 32598654 32598654 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 32598654 32598654 T C SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known missense c.793 p.S265P 0.993 pfam_ABL9/DENND6_dom pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 tier1 - - 39 0 0.00 50 13 20.63 BAHCC1 0 genome.wustl.edu 37 17 79427925 79427925 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 79427925 79427925 C - DEL BAHCC1 ENST00000307745 human ensembl 74_37 +1 known frame_shift_del c.6236 p.T2081fs 0.019 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 102 0 0.00 65 12 15.58 BARD1 0 genome.wustl.edu 37 2 215610468 215610468 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 215610468 215610468 T - DEL BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_del c.1788 p.K596fs 0.730 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 127 0 0.00 115 23 16.67 BARD1 0 genome.wustl.edu 37 2 215645519 215645519 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 215645519 215645519 G A SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.1079 p.P360L 0.025 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 - - 106 0 0.00 95 19 16.52 BCAP31 0 genome.wustl.edu 37 X 152988723 152988723 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 152988723 152988723 A C SNP BCAP31 ENST00000458587 human ensembl 74_37 -1 known missense c.178 p.C60G 0.000 NULL pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 tier1 - - 20 0 0.00 13 6 31.58 BCHE 0 genome.wustl.edu 37 3 165548195 165548196 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 165548195 165548196 - T INS BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.N209fs 0.906:1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 101 0 0.00 96 14 12.73 BCL7C 0 genome.wustl.edu 37 16 30899305 30899305 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 30899305 30899305 C T SNP BCL7C ENST00000215115 human ensembl 74_37 -1 known missense c.535 p.E179K 0.996 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 tier1 - - 106 0 0.00 86 30 25.86 BCLAF1 0 genome.wustl.edu 37 6 136597393 136597393 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 136597393 136597393 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1270 p.A424T 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 246 0 0.00 273 26 8.67 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 94 0 0.00 82 25 23.36 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 41 0 0.00 41 11 21.15 BEX2 0 genome.wustl.edu 37 X 102564600 102564600 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 102564600 102564600 T - DEL BEX2 ENST00000536889 human ensembl 74_37 -1 known frame_shift_del c.401 p.K134fs 0.861 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors BEX2 HGNC ENSG00000133134 tier1 173 0 0.00 154 29 15.85 BHLHE22 0 genome.wustl.edu 37 8 65494179 65494179 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 65494179 65494179 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known nonsense c.832 p.R278* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 tier1 - - 37 0 0.00 30 4 11.76 BIRC6 0 genome.wustl.edu 37 2 32664633 32664633 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 32664633 32664633 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.3689 p.R1230I 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 35 0 0.00 26 7 21.21 BPNT1 0 genome.wustl.edu 37 1 220232322 220232322 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 220232322 220232322 T A SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.791 p.D264V 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 tier1 - - 118 0 0.00 120 31 20.53 BRINP1 0 genome.wustl.edu 37 9 121929812 121929812 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 121929812 121929812 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.1836 p.F612 0.154 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 127 0 0.00 144 31 17.71 BRPF1 0 genome.wustl.edu 37 3 9782461 9782461 + Splice_Site SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 9782461 9782461 A G SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known splice_site c.1560-2 e3-2 1.000 - - - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 95 0 0.00 77 16 17.20 BRSK1 0 genome.wustl.edu 37 19 55815036 55815036 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 55815036 55815036 C - DEL BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_del c.1176 p.R395fs 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 tier1 62 0 0.00 78 14 15.22 BRWD3 0 genome.wustl.edu 37 X 79978218 79978218 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 79978218 79978218 C G SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1719 p.L573F 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 85 0 0.00 83 38 31.40 BSG 0 genome.wustl.edu 37 19 577929 577929 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 577929 577929 C T SNP BSG ENST00000333511 human ensembl 74_37 +1 known missense c.223 p.R75W 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 15 0 0.00 17 4 19.05 BSPRY 0 genome.wustl.edu 37 9 116132188 116132188 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 116132188 116132188 G T SNP BSPRY ENST00000374183 human ensembl 74_37 +1 known missense c.975 p.W325C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 tier1 - - 73 0 0.00 75 14 15.73 BSX 0 genome.wustl.edu 37 11 122848518 122848518 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 122848518 122848518 C A SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.541 p.G181W 0.392 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 tier1 - - 30 0 0.00 51 11 17.74 BTAF1 0 genome.wustl.edu 37 10 93699781 93699781 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 93699781 93699781 A - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known frame_shift_del c.211 p.N72fs 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 38 0 0.00 29 11 27.50 C11orf68 0 genome.wustl.edu 37 11 65685482 65685482 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65685482 65685482 G A SNP C11orf68 ENST00000438576 human ensembl 74_37 -1 known silent c.330 p.P110 0.375 pfam_DUF1917,superfamily_TIF_eIF4e-like_dom pfam_DUF1917,superfamily_TIF_eIF4e-like_dom - no_errors C11orf68 HGNC ENSG00000175573 tier1 - - 64 0 0.00 48 9 15.79 C11orf82 0 genome.wustl.edu 37 11 82643629 82643629 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 82643629 82643629 C T SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.1249 p.P417S 1.000 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 tier1 - - 136 0 0.00 146 26 15.12 C12orf10 0 genome.wustl.edu 37 12 53700875 53700875 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 53700875 53700875 C T SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.584 p.A195V 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 tier1 - - 90 0 0.00 68 30 30.61 C12orf49 0 genome.wustl.edu 37 12 117158200 117158200 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 117158200 117158200 G A SNP C12orf49 ENST00000261318 human ensembl 74_37 -1 known silent c.321 p.N107 0.994 pfam_UPF0454 pfam_UPF0454 - no_errors C12orf49 HGNC ENSG00000111412 tier1 - - 209 0 0.00 171 90 34.35 C12orf55 0 genome.wustl.edu 37 12 97137663 97137663 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 97137663 97137663 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.7532 p.R2511Q 0.071 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 rs115230871 - 90 0 0.00 86 14 14.00 C15orf27 0 genome.wustl.edu 37 15 76430195 76430195 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 76430195 76430195 G A SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known silent c.186 p.S62 0.198 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 - - 65 0 0.00 60 20 25.00 C16orf78 0 genome.wustl.edu 37 16 49430497 49430497 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 49430497 49430497 C T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known silent c.558 p.Y186 0.045 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 52 0 0.00 36 15 29.41 C1QTNF1 0 genome.wustl.edu 37 17 77043726 77043726 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 77043726 77043726 G - DEL C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known frame_shift_del c.432 p.A146fs 0.819 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 tier1 76 0 0.00 78 10 11.36 C1QTNF9B 0 genome.wustl.edu 37 13 24470982 24470982 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 24470982 24470982 C T SNP C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known silent c.144 p.A48 0.691 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 tier1 - - 64 0 0.00 53 12 18.46 C1orf177 0 genome.wustl.edu 37 1 55279487 55279487 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 55279487 55279487 A - DEL C1orf177 ENST00000371273 human ensembl 74_37 +1 known frame_shift_del c.763 p.K257fs 0.997 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 tier1 92 0 0.00 48 9 15.79 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 tier1 159 0 0.00 136 21 13.38 C2orf15 0 genome.wustl.edu 37 2 99767057 99767057 + Silent SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 99767057 99767057 A T SNP C2orf15 ENST00000302513 human ensembl 74_37 +1 known silent c.138 p.V46 0.045 NULL NULL - no_errors C2ORF15 Uniprot_gn ENSG00000273045 tier1 - - 76 0 0.00 85 15 15.00 C3AR1 0 genome.wustl.edu 37 12 8212315 8212315 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 8212315 8212315 G T SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.467 p.P156H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 tier1 - - 85 0 0.00 91 13 12.50 C3orf27 0 genome.wustl.edu 37 3 128292318 128292319 + Frame_Shift_Ins INS - - TC TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 128292318 128292319 - TC INS C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_ins c.255_254 p.D85fs 0.000:0.075 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 72 0 0.00 73 11 13.10 C6orf57 0 genome.wustl.edu 37 6 71298401 71298401 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 71298401 71298401 C T SNP C6orf57 ENST00000370474 human ensembl 74_37 +1 known nonsense c.301 p.R101* 1.000 pfam_DUF1674 pfam_DUF1674 - no_errors C6orf57 HGNC ENSG00000154079 tier1 - - 105 0 0.00 101 12 10.62 C7orf49 0 genome.wustl.edu 37 7 134853689 134853689 + RNA SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 134853689 134853689 A G SNP C7orf49 ENST00000459937 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C7orf49 HGNC ENSG00000122783 tier1 - - 40 0 0.00 25 15 37.50 C9orf131 0 genome.wustl.edu 37 9 35044023 35044023 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 35044023 35044023 C T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.1397 p.A466V 0.018 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 - - 94 0 0.00 103 27 20.77 C9orf96 0 genome.wustl.edu 37 9 136270004 136270004 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 136270004 136270004 G A SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known silent c.1824 p.P608 0.001 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 tier1 - - 101 0 0.00 110 24 17.91 CACNA1E 0 genome.wustl.edu 37 1 181680101 181680102 + Frame_Shift_Ins INS - - AG TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 181680101 181680102 - AG INS CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_ins c.1067_1068 p.E360fs 1.000:1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 79 0 0.00 69 12 14.81 CACNA1E 0 genome.wustl.edu 37 1 181688962 181688962 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 181688962 181688962 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known nonsense c.1714 p.R572* 0.998 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 8 0 0.00 18 3 14.29 CACNA1S 0 genome.wustl.edu 37 1 201017736 201017736 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 201017736 201017736 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4415 p.R1472H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 rs201463541 - 101 0 0.00 80 26 24.30 CACNB1 0 genome.wustl.edu 37 17 37331549 37331549 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 37331549 37331549 C T SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.1694 p.R565Q 0.997 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 tier1 - - 267 0 0.00 172 46 21.00 CACNB1 0 genome.wustl.edu 37 17 37342222 37342222 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 37342222 37342222 C T SNP CACNB1 ENST00000344140 human ensembl 74_37 -1 known missense c.764 p.R255H 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 tier1 - - 37 0 0.00 28 8 22.22 CAMK1G 0 genome.wustl.edu 37 1 209773452 209773452 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 209773452 209773452 A - DEL CAMK1G ENST00000009105 human ensembl 74_37 +1 known frame_shift_del c.217 p.K74fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1G HGNC ENSG00000008118 tier1 130 0 0.00 134 20 12.99 CAMTA2 0 genome.wustl.edu 37 17 4875737 4875738 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 4875737 4875738 - G INS CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_ins c.2667_2666 p.A890fs 0.999:1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 24 0 0.00 11 7 38.89 CARS 0 genome.wustl.edu 37 11 3069062 3069062 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 3069062 3069062 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known silent c.195 p.H65 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 tier1 - - 38 0 0.00 39 10 20.00 CATSPERG 0 genome.wustl.edu 37 19 38855584 38855584 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 38855584 38855584 C T SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known silent c.2529 p.H843 0.238 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 tier1 - - 79 0 0.00 102 24 18.90 CATSPERG 0 genome.wustl.edu 37 19 38860879 38860879 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 38860879 38860879 G - DEL CATSPERG ENST00000409235 human ensembl 74_37 +1 known frame_shift_del c.3194 p.A1066fs 0.530 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 tier1 36 0 0.00 24 5 17.24 CBWD3 0 genome.wustl.edu 37 9 70914000 70914000 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 70914000 70914000 G A SNP CBWD3 ENST00000360171 human ensembl 74_37 +1 known missense c.1072 p.V358I 1.000 pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 tier1 - - 21 0 0.00 24 6 20.00 CC2D2A 0 genome.wustl.edu 37 4 15601329 15601329 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 15601329 15601329 G T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.4674 p.R1558S 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 33 0 0.00 25 6 19.35 CCAR1 0 genome.wustl.edu 37 10 70509284 70509285 + Frame_Shift_Ins INS - - GA TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 70509284 70509285 - GA INS CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_ins c.960_961 p.R324fs 0.998:1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 63 0 0.00 65 12 15.58 CCDC11 0 genome.wustl.edu 37 18 47777208 47777208 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 47777208 47777208 C T SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.916 p.E306K 0.861 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 tier1 - - 283 0 0.00 334 61 15.40 CCDC132 0 genome.wustl.edu 37 7 92978023 92978023 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 92978023 92978023 G T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.2208 p.L736F 0.998 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 tier1 - - 99 0 0.00 86 36 29.27 CCDC14 0 genome.wustl.edu 37 3 123634293 123634293 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 123634293 123634293 C T SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.2195 p.G732D 0.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 tier1 - - 84 0 0.00 67 12 15.19 CCDC147 0 genome.wustl.edu 37 10 106152126 106152126 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 106152126 106152126 T C SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.1501 p.Y501H 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 rs142218964 - 106 0 0.00 90 17 15.89 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 48 0 0.00 23 25 52.08 CCDC180 0 genome.wustl.edu 37 9 100076708 100076709 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 100076708 100076709 - T INS CCDC180 ENST00000375202 human ensembl 74_37 +1 known frame_shift_ins c.625_626 p.L211fs 0.000:0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 64 0 0.00 68 17 20.00 CCDC33 0 genome.wustl.edu 37 15 74564053 74564053 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 74564053 74564053 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.1165 p.R389W 0.812 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 rs201603982 - 38 0 0.00 37 11 22.00 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 96292432 96292432 T 0 DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 59 0 0.00 86 8 8.51 CCDC94 0 genome.wustl.edu 37 19 4249294 4249294 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 4249294 4249294 G A SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known missense c.94 p.V32M 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 tier1 - - 49 0 0.00 31 8 20.51 CCKBR 0 genome.wustl.edu 37 11 6291359 6291359 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 6291359 6291359 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.445 p.A149T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 54 0 0.00 63 8 11.27 CCNE1 0 genome.wustl.edu 37 19 30314611 30314613 + In_Frame_Del DEL CTC CTC - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 30314611 30314613 CTC - DEL CCNE1 ENST00000262643 human ensembl 74_37 +1 known in_frame_del c.1160_1162 p.P388in_frame_del 0.998:0.996:1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 tier1 69 0 0.00 57 5 8.06 CCR7 0 genome.wustl.edu 37 17 38711707 38711707 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 38711707 38711707 T C SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known missense c.424 p.S142G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 tier1 - - 29 0 0.00 22 11 32.35 CCT3 0 genome.wustl.edu 37 1 156281858 156281860 + In_Frame_Del DEL GGA GGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 156281858 156281860 GGA 0 DEL CCT3 ENST00000295688 human ensembl 74_37 -1 known in_frame_del c.1129_1127 p.L376in_frame_del 1.000:0.999:1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 82 0 0.00 80 8 9.09 CCT8L2 0 genome.wustl.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 17071787 17071787 T - DEL CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_del c.1654 p.I552fs 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 85 0 0.00 80 20 20.00 CD151 0 genome.wustl.edu 37 11 836771 836771 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 836771 836771 C T SNP CD151 ENST00000322008 human ensembl 74_37 +1 known silent c.279 p.Y93 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 tier1 - - 50 0 0.00 34 7 17.07 CD33 0 genome.wustl.edu 37 19 51728631 51728631 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 51728631 51728631 C T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known silent c.195 p.A65 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 88 0 0.00 78 17 17.89 CD4 0 genome.wustl.edu 37 12 6909477 6909477 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 6909477 6909477 C A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.54 p.L18 0.000 NULL pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 tier1 - - 58 0 0.00 64 31 32.63 CDC42BPB 0 genome.wustl.edu 37 14 103410748 103410750 + In_Frame_Del DEL GAG GAG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 103410748 103410750 GAG - DEL CDC42BPB ENST00000361246 human ensembl 74_37 -1 known in_frame_del c.3888_3886 p.L1296in_frame_del 0.827:0.851:0.833 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 24 0 0.00 40 3 6.98 CDH23 0 genome.wustl.edu 37 10 73545397 73545397 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 73545397 73545397 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5737 p.V1913I 0.655 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 16 0 0.00 7 4 36.36 CDHR5 0 genome.wustl.edu 37 11 619026 619026 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 619026 619026 C T SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known silent c.1533 p.R511 0.018 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 tier1 - - 115 0 0.00 121 29 19.33 CDKN2A 0 genome.wustl.edu 37 9 21974567 21974567 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 21974567 21974567 C A SNP CDKN2A ENST00000380151 human ensembl 74_37 -1 known missense c.260 p.R87M 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 343 0 0.00 371 97 20.68 CDO1 0 genome.wustl.edu 37 5 115148957 115148958 + Splice_Site INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 115148957 115148958 - A INS CDO1 ENST00000250535 human ensembl 74_37 -1 known splice_site_ins c.171-3_171-2 e2-2 1.000:0.011 - - - no_errors CDO1 HGNC ENSG00000129596 tier1 58 0 0.00 45 7 13.46 CDRT4 0 genome.wustl.edu 37 17 15341281 15341281 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 15341281 15341281 A G SNP CDRT4 ENST00000312177 human ensembl 74_37 -1 known missense c.265 p.F89L 0.000 superfamily_RNA_pol_subH/Rpb5_C superfamily_RNA_pol_subH/Rpb5_C - no_errors CDRT4 HGNC ENSG00000239704 tier1 - - 99 0 0.00 85 9 9.57 CEL 0 genome.wustl.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 135941982 135941982 G - DEL CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_del c.613 p.D207fs 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 160 0 0.00 150 31 17.13 CELSR3 0 genome.wustl.edu 37 3 48696487 48696487 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 48696487 48696487 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3581 p.R1194H 0.996 superfamily_Cadherin-like pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 64 0 0.00 53 13 19.70 CENPE 0 genome.wustl.edu 37 4 104116383 104116383 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 104116383 104116383 T G SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.365 p.D122A 0.999 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 40 0 0.00 44 8 15.38 CEP104 0 genome.wustl.edu 37 1 3754080 3754080 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 3754080 3754080 G A SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known nonsense c.895 p.R299* 0.729 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 tier1 - - 36 0 0.00 6 8 57.14 CEP120 0 genome.wustl.edu 37 5 122726963 122726963 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 122726963 122726963 C A SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.879 p.K293N 0.998 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 tier1 - - 152 0 0.00 125 18 12.59 CERS2 0 genome.wustl.edu 37 1 150940637 150940637 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 150940637 150940637 C T SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known missense c.332 p.G111D 0.974 pfam_Homeobox_dom,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 tier1 - - 107 0 0.00 112 15 11.81 CETP 0 genome.wustl.edu 37 16 57012127 57012127 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 57012127 57012127 G A SNP CETP ENST00000200676 human ensembl 74_37 +1 known missense c.1106 p.R369H 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 tier1 rs144949752 - 169 0 0.00 103 24 18.90 CHD1 0 genome.wustl.edu 37 5 98206409 98206409 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 98206409 98206409 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.3960 p.E1321fs 1.000 superfamily_Homeodomain-like 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 CHD1 HGNC ENSG00000153922 tier1 121 0 0.00 108 21 16.28 CHD1 0 genome.wustl.edu 37 5 98236519 98236519 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 98236519 98236519 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.855 p.G286fs 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow 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 CHD1 HGNC ENSG00000153922 tier1 92 0 0.00 94 16 14.55 CHD4 0 genome.wustl.edu 37 12 6701694 6701694 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 6701694 6701694 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2813 p.A938V 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 143 0 0.00 148 22 12.94 CHFR 0 genome.wustl.edu 37 12 133435729 133435729 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 133435729 133435729 G A SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.872 p.A291V 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 tier1 - - 68 0 0.00 86 6 6.52 CHGB 0 genome.wustl.edu 37 20 5896955 5896955 + RNA SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 5896955 5896955 C A SNP CHGB ENST00000488832 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHGB HGNC ENSG00000089199 tier1 - - 50 0 0.00 38 7 15.56 CHPT1 0 genome.wustl.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 102108338 102108338 T - DEL CHPT1 ENST00000229266 human ensembl 74_37 +1 known frame_shift_del c.478 p.F162fs 0.989 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 tier1 73 0 0.00 114 20 14.93 CHRNA5 0 genome.wustl.edu 37 15 78882366 78882366 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 78882366 78882366 T - DEL CHRNA5 ENST00000299565 human ensembl 74_37 +1 known frame_shift_del c.633 p.F213fs 0.958 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 tier1 93 0 0.00 87 11 11.22 CHRNG 0 genome.wustl.edu 37 2 233408368 233408368 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 233408368 233408368 C T SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.994 p.R332W 0.973 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 42 0 0.00 38 9 19.15 CHTOP 0 genome.wustl.edu 37 1 153615727 153615727 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 153615727 153615727 G A SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known missense c.428 p.R143Q 1.000 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 tier1 - - 153 0 0.00 126 31 19.75 CIC 0 genome.wustl.edu 37 19 42791339 42791339 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 42791339 42791339 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.399 p.P135fs 0.095 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 39 0 0.00 36 8 18.18 CKAP5 0 genome.wustl.edu 37 11 46780945 46780945 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 46780945 46780945 C T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.4442 p.R1481H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 100 0 0.00 97 9 8.49 CLCN4 0 genome.wustl.edu 37 X 10176511 10176511 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 10176511 10176511 C T SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1270 p.R424W 0.850 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-4 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 tier1 - - 321 0 0.00 240 93 27.84 CLCN6 0 genome.wustl.edu 37 1 11896036 11896036 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 11896036 11896036 C T SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known silent c.1806 p.S602 0.168 pfam_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 tier1 - - 31 0 0.00 24 8 25.00 CLDN5 0 genome.wustl.edu 37 22 19511719 19511720 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 19511719 19511720 - C INS CLDN5 ENST00000403084 human ensembl 74_37 -1 known frame_shift_ins c.315_314 p.L106fs 1.000:1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 tier1 19 0 0.00 21 3 12.50 CLEC18B 0 genome.wustl.edu 37 16 74444453 74444454 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 74444453 74444454 0 A INS CLEC18B ENST00000339953 human ensembl 74_37 -1 known frame_shift_ins c.1192_1191 p.G397fs 1.000:0.986 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 15 0 0.00 14 3 17.65 CLEC5A 0 genome.wustl.edu 37 7 141635626 141635626 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 141635626 141635626 C T SNP CLEC5A ENST00000546910 human ensembl 74_37 -1 known silent c.333 p.T111 0.054 pfam_C-type_lectin,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 CLEC5A HGNC ENSG00000258227 tier1 rs200671062 - 94 0 0.00 100 20 16.67 CLP1 0 genome.wustl.edu 37 11 57426972 57426972 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 57426972 57426972 C T SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known silent c.24 p.D8 0.768 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 tier1 - - 52 0 0.00 62 14 18.42 CNNM1 0 genome.wustl.edu 37 10 101089318 101089318 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 101089318 101089318 G - DEL CNNM1 ENST00000356713 human ensembl 74_37 +1 known frame_shift_del c.174 p.G60fs 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 tier1 24 0 0.00 21 6 22.22 CNST 0 genome.wustl.edu 37 1 246755180 246755180 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 246755180 246755180 A - DEL CNST ENST00000366513 human ensembl 74_37 +1 known frame_shift_del c.316 p.I108fs 0.913 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 46 0 0.00 29 7 19.44 CNTN6 0 genome.wustl.edu 37 3 1262424 1262424 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 1262424 1262424 T A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.109 p.F37I 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 CNTN6 HGNC ENSG00000134115 tier1 - - 125 0 0.00 127 32 20.13 CNTNAP5 0 genome.wustl.edu 37 2 125192085 125192085 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 125192085 125192085 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.554 p.G185D 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 101 0 0.00 78 15 16.13 COG2 0 genome.wustl.edu 37 1 230798932 230798932 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 230798932 230798932 C T SNP COG2 ENST00000366669 human ensembl 74_37 +1 known nonsense c.346 p.R116* 0.986 pfam_COG_su2_N pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 tier1 - - 57 0 0.00 40 12 23.08 COL10A1 0 genome.wustl.edu 37 6 116441979 116441979 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 116441979 116441979 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.1300 p.G434R 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 85 0 0.00 68 8 10.53 COL11A1 0 genome.wustl.edu 37 1 103548506 103548506 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 103548506 103548506 T - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.129 p.A44fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 78 0 0.00 67 17 20.24 COL1A2 0 genome.wustl.edu 37 7 94050367 94050368 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 94050367 94050368 - C INS COL1A2 ENST00000297268 human ensembl 74_37 +1 known frame_shift_ins c.2342_2343 p.G784fs 1.000:0.791 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 56 0 0.00 76 14 15.56 COL22A1 0 genome.wustl.edu 37 8 139838991 139838991 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 139838991 139838991 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.879 p.Y293 0.973 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 34 0 0.00 47 7 12.96 COL24A1 0 genome.wustl.edu 37 1 86554890 86554890 + Silent SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 86554890 86554890 T A SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.1674 p.G558 0.986 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 84 0 0.00 88 28 24.14 COL3A1 0 genome.wustl.edu 37 2 189861890 189861890 + Splice_Site SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 189861890 189861890 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known splice_site c.1762-1 e25-1 1.000 - - - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 53 0 0.00 48 6 11.11 COL3A1 0 genome.wustl.edu 37 2 189873769 189873769 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 189873769 189873769 T - DEL COL3A1 ENST00000304636 human ensembl 74_37 +1 known frame_shift_del c.3645 p.F1216fs 0.132 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 125 0 0.00 115 15 11.54 COL5A1 0 genome.wustl.edu 37 9 137653812 137653812 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 137653812 137653812 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.1977 p.D659 0.116 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 51 0 0.00 76 7 8.43 COL6A3 0 genome.wustl.edu 37 2 238280362 238280362 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 238280362 238280362 G A SNP COL6A3 ENST00000392004 human ensembl 74_37 -1 putative missense c.3680 p.A1227V 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 114 0 0.00 96 17 15.04 COL6A6 0 genome.wustl.edu 37 3 130290118 130290118 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 130290118 130290118 C G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2858 p.P953R 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 59 0 0.00 45 14 23.33 COL6A6 0 genome.wustl.edu 37 3 130380763 130380763 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 130380763 130380763 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6113 p.Y2038C 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 47 0 0.00 36 11 23.40 COL9A3 0 genome.wustl.edu 37 20 61464391 61464391 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 61464391 61464391 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1343 p.G448D 1.000 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 104 0 0.00 108 23 17.56 COL9A3 0 genome.wustl.edu 37 20 61468581 61468581 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 61468581 61468581 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1750 p.G584S 1.000 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 79 0 0.00 73 11 13.10 CPM 0 genome.wustl.edu 37 12 69265638 69265638 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 69265638 69265638 T C SNP CPM ENST00000338356 human ensembl 74_37 -1 known missense c.357 p.I119M 0.908 pfam_Peptidase_M14,pfam_Aste_AspA,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 tier1 - - 92 0 0.00 121 24 16.55 CPN1 0 genome.wustl.edu 37 10 101824992 101824992 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 101824992 101824992 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.712 p.R238C 0.965 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 tier1 - - 139 0 0.00 113 27 19.29 CPNE2 0 genome.wustl.edu 37 16 57147218 57147218 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 57147218 57147218 G A SNP CPNE2 ENST00000290776 human ensembl 74_37 +1 known missense c.199 p.A67T 0.664 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE2 HGNC ENSG00000140848 tier1 - - 48 0 0.00 51 9 15.00 CPOX 0 genome.wustl.edu 37 3 98307668 98307668 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 98307668 98307668 C T SNP CPOX ENST00000264193 human ensembl 74_37 -1 known missense c.842 p.C281Y 0.994 pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer - no_errors CPOX HGNC ENSG00000080819 tier1 - - 41 0 0.00 43 20 31.75 CRAT 0 genome.wustl.edu 37 9 131870213 131870213 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 131870213 131870213 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.171 p.I57 0.996 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 - - 80 0 0.00 75 25 25.00 CREB5 0 genome.wustl.edu 37 7 28844112 28844112 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 28844112 28844112 G A SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known silent c.999 p.P333 0.377 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 tier1 rs61736232 - 122 0 0.00 163 22 11.83 CRIM1 0 genome.wustl.edu 37 2 36668550 36668550 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 36668550 36668550 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.655 p.R219C 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 tier1 - - 69 0 0.00 52 13 20.00 CRYBG3 0 genome.wustl.edu 37 3 97599983 97599983 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 97599983 97599983 T A SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1228 p.L410I 0.996 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 tier1 - - 82 0 0.00 70 8 10.26 CRYGA 0 genome.wustl.edu 37 2 209025561 209025561 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 209025561 209025561 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.492 p.V164 0.002 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 - - 134 0 0.00 108 28 20.59 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 151 0 0.00 117 26 18.18 CSMD3 0 genome.wustl.edu 37 8 113484862 113484862 + Nonsense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 113484862 113484862 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.5353 p.G1785* 1.000 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 CSMD3 HGNC ENSG00000164796 tier1 - - 155 0 0.00 206 15 6.79 CTRC 0 genome.wustl.edu 37 1 15766864 15766864 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 15766864 15766864 C T SNP CTRC ENST00000375949 human ensembl 74_37 +1 known missense c.109 p.R37W 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 CTRC HGNC ENSG00000162438 tier1 - - 19 0 0.00 12 6 33.33 CTSW 0 genome.wustl.edu 37 11 65648964 65648964 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65648964 65648964 G - DEL CTSW ENST00000307886 human ensembl 74_37 +1 known frame_shift_del c.259 p.V88fs 1.000 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 tier1 175 0 0.00 170 53 23.77 CWF19L2 0 genome.wustl.edu 37 11 107299560 107299560 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 107299560 107299560 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.1398 p.E467fs 0.186 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 158 0 0.00 199 22 9.95 CXXC1 0 genome.wustl.edu 37 18 47810263 47810265 + Splice_Site DEL CCT CCT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 47810263 47810265 CCT - DEL CXXC1 ENST00000412036 human ensembl 74_37 -1 known splice_site_del c.1425+3_1425+1 e11-1 1.000:1.000:1.000 - - - no_errors CXXC1 HGNC ENSG00000154832 tier1 196 0 0.00 192 25 11.52 CYBB 0 genome.wustl.edu 37 X 37641362 37641362 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 37641362 37641362 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.67 p.V23I 0.903 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 100 0 0.00 82 33 28.70 CYBRD1 0 genome.wustl.edu 37 2 172410006 172410006 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 172410006 172410006 T C SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known missense c.553 p.S185P 0.027 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 tier1 - - 52 0 0.00 59 16 21.33 CYP11B2 0 genome.wustl.edu 37 8 143994024 143994024 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 143994024 143994024 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.1320 p.H440 0.095 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 100 0 0.00 93 29 23.77 CYP2D6 0 genome.wustl.edu 37 22 42525172 42525172 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 42525172 42525172 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.368 p.R123H 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 tier1 - - 45 0 0.00 31 5 13.89 CYP3A5 0 genome.wustl.edu 37 7 99247763 99247763 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 99247763 99247763 A G SNP CYP3A5 ENST00000222982 human ensembl 74_37 -1 known missense c.1346 p.M449T 0.838 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 tier1 rs141469784 - 207 0 0.00 223 43 16.17 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581140 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 47581140 47581140 A - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 24 0 0.00 18 5 21.74 CYR61 0 genome.wustl.edu 37 1 86048117 86048117 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 86048117 86048117 G A SNP CYR61 ENST00000451137 human ensembl 74_37 +1 known missense c.653 p.R218H 0.997 pirsf_IGFBP_CNN pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC ENSG00000142871 tier1 - - 78 0 0.00 66 28 29.79 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 90321802 90321802 G - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3891 p.Y1300fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 57 0 0.00 55 9 14.06 DARC 0 genome.wustl.edu 37 1 159175936 159175936 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 159175936 159175936 G A SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.713 p.G238D 0.003 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 80 0 0.00 69 16 18.82 DBH 0 genome.wustl.edu 37 9 136521644 136521644 + Splice_Site DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 136521644 136521644 G - DEL DBH ENST00000393056 human ensembl 74_37 +1 known splice_site_del c.1435-1 e10-1 1.000 - - - no_errors DBH HGNC ENSG00000123454 tier1 57 0 0.00 55 8 12.70 DCAF12L2 0 genome.wustl.edu 37 X 125299072 125299072 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 125299072 125299072 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.836 p.A279V 0.580 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 85 0 0.00 80 25 23.81 DCAF13 0 genome.wustl.edu 37 8 104433227 104433227 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 104433227 104433227 C T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.751 p.R251W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 85 0 0.00 104 14 11.86 DCLK3 0 genome.wustl.edu 37 3 36778851 36778851 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 36778851 36778851 C T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1300 p.V434M 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 tier1 - - 59 0 0.00 34 14 29.17 DDX60L 0 genome.wustl.edu 37 4 169317264 169317264 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 169317264 169317264 T - DEL DDX60L ENST00000260184 human ensembl 74_37 -1 known frame_shift_del c.3503 p.N1168fs 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 tier1 20 0 0.00 17 6 26.09 DEDD 0 genome.wustl.edu 37 1 161092988 161092988 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 161092988 161092988 A G SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.457 p.C153R 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 tier1 - - 62 0 0.00 64 20 23.81 DEFA4 0 genome.wustl.edu 37 8 6793555 6793555 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 6793555 6793555 G A SNP DEFA4 ENST00000297435 human ensembl 74_37 -1 known missense c.281 p.T94M 0.010 pirsf_Alpha-defensin pfam_Defensin_propep,pfam_Mammalian_defensins,smart_Defensin_beta/neutrophil,pirsf_Alpha-defensin - no_errors DEFA4 HGNC ENSG00000164821 tier1 - - 98 0 0.00 116 13 10.00 DEFB136 0 genome.wustl.edu 37 8 11831470 11831470 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 11831470 11831470 T G SNP DEFB136 ENST00000382209 human ensembl 74_37 -1 known missense c.213 p.Q71H 0.001 NULL NULL - no_errors DEFB136 HGNC ENSG00000205884 tier1 - - 199 0 0.00 213 43 16.73 DENND2C 0 genome.wustl.edu 37 1 115129879 115129879 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 115129879 115129879 G A SNP DENND2C ENST00000481894 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DENND2C HGNC ENSG00000175984 tier1 - - 53 0 0.00 50 22 30.56 DET1 0 genome.wustl.edu 37 15 89074728 89074728 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 89074728 89074728 C T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.242 p.R81H 1.000 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 tier1 - - 95 0 0.00 87 16 15.53 DGAT1 0 genome.wustl.edu 37 8 145541816 145541818 + In_Frame_Del DEL CTT CTT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 145541816 145541818 CTT - DEL DGAT1 ENST00000332324 human ensembl 74_37 -1 known in_frame_del c.693_691 p.K231in_frame_del 0.026:0.000:0.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 tier1 71 0 0.00 82 11 11.83 DGAT2 0 genome.wustl.edu 37 11 75501753 75501753 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 75501753 75501753 T G SNP DGAT2 ENST00000228027 human ensembl 74_37 +1 known missense c.406 p.F136V 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2 HGNC ENSG00000062282 tier1 - - 91 0 0.00 93 16 14.68 DGCR2 0 genome.wustl.edu 37 22 19055632 19055632 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 19055632 19055632 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known silent c.309 p.A103 0.027 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 tier1 rs149916218 - 59 0 0.00 33 8 19.51 DHPS 0 genome.wustl.edu 37 19 12791075 12791075 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 12791075 12791075 C T SNP DHPS ENST00000210060 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 tier1 rs145815031 - 166 0 0.00 163 24 12.83 DHX33 0 genome.wustl.edu 37 17 5359328 5359328 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 5359328 5359328 C A SNP DHX33 ENST00000225296 human ensembl 74_37 -1 known missense c.1024 p.G342W 0.992 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 tier1 - - 29 0 0.00 14 4 22.22 DIP2C 0 genome.wustl.edu 37 10 323320 323320 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 323320 323320 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.4616 p.R1539Q 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 tier1 - - 53 0 0.00 54 11 16.92 DLD 0 genome.wustl.edu 37 7 107546756 107546756 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 107546756 107546756 A - DEL DLD ENST00000205402 human ensembl 74_37 +1 known frame_shift_del c.627 p.V212fs 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 56 0 0.00 49 30 37.97 DLGAP2 0 genome.wustl.edu 37 8 1497698 1497698 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 1497698 1497698 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.839 p.T280M 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 77 0 0.00 74 8 9.76 DMD 0 genome.wustl.edu 37 X 31496332 31496332 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 31496332 31496332 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8828 p.T2943M 0.004 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 30 0 0.00 44 17 27.87 DMTN 0 genome.wustl.edu 37 8 21926994 21926994 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 21926994 21926994 C - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_del c.359 p.R122fs 0.872 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 34 0 0.00 29 4 12.12 DMXL1 0 genome.wustl.edu 37 5 118485653 118485653 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 118485653 118485653 T C SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.4131 p.S1377 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 70 0 0.00 57 6 9.52 DNA2 0 genome.wustl.edu 37 10 70176506 70176506 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 70176506 70176506 G T SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.3332 p.P1111H 1.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 - - 50 0 0.00 62 9 12.68 DNAH10 0 genome.wustl.edu 37 12 124265816 124265816 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 124265816 124265816 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.628 p.N210D 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 148 0 0.00 195 38 16.31 DNAH3 0 genome.wustl.edu 37 16 21098282 21098282 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 21098282 21098282 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.2765 p.A922V 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 242 0 0.00 197 42 17.57 DNAH7 0 genome.wustl.edu 37 2 196689020 196689020 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 196689020 196689020 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9250 p.K3084E 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 56 0 0.00 67 23 25.56 DNAH9 0 genome.wustl.edu 37 17 11584066 11584066 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 11584066 11584066 A - DEL DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_del c.3603 p.K1203fs 0.379 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 34 0 0.00 19 7 26.92 DNAJB8 0 genome.wustl.edu 37 3 128181482 128181482 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 128181482 128181482 C T SNP DNAJB8 ENST00000319153 human ensembl 74_37 -1 known missense c.607 p.G203R 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB8 HGNC ENSG00000179407 tier1 rs199505596 - 83 0 0.00 61 14 18.67 DNAJC13 0 genome.wustl.edu 37 3 132229995 132229995 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 132229995 132229995 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.5200 p.A1734T 0.784 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 139 0 0.00 99 19 16.10 DNAJC13 0 genome.wustl.edu 37 3 132244473 132244473 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 132244473 132244473 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.6080 p.L2027S 0.975 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 129 0 0.00 92 20 17.86 DNAJC17 0 genome.wustl.edu 37 15 41060179 41060179 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 41060179 41060179 C T SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.874 p.A292T 0.952 NULL pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 54 0 0.00 46 13 22.03 DNM2 0 genome.wustl.edu 37 19 10940881 10940882 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 10940881 10940882 - C INS DNM2 ENST00000314646 human ensembl 74_37 +1 known frame_shift_ins c.2370_2371 p.L792fs 0.894:1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 tier1 105 0 0.00 91 12 11.65 DNMBP 0 genome.wustl.edu 37 10 101668716 101668716 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 101668716 101668716 C A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.2448 p.Q816H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 89 0 0.00 71 21 22.58 DOCK2 0 genome.wustl.edu 37 5 169141189 169141189 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 169141189 169141189 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1817 p.V606A 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 57 0 0.00 50 19 27.54 DOCK6 0 genome.wustl.edu 37 19 11328011 11328011 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 11328011 11328011 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.3607 p.E1203K 0.978 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 27 0 0.00 30 10 25.00 DOPEY1 0 genome.wustl.edu 37 6 83865781 83865781 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 83865781 83865781 G A SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.6563 p.S2188N 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 47 0 0.00 49 17 25.76 DPAGT1 0 genome.wustl.edu 37 11 118969142 118969143 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 118969142 118969143 0 A INS DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_ins c.699_698 p.T234fs 1.000:1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 119 0 0.00 136 13 8.72 DPEP1 0 genome.wustl.edu 37 16 89703638 89703638 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 89703638 89703638 G - DEL DPEP1 ENST00000261615 human ensembl 74_37 +1 known frame_shift_del c.618 p.V208fs 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 tier1 87 0 0.00 79 14 15.05 DPEP2 0 genome.wustl.edu 37 16 68024785 68024785 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 68024785 68024785 G A SNP DPEP2 ENST00000393847 human ensembl 74_37 -1 known missense c.848 p.S283L 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 tier1 - - 206 0 0.00 203 39 16.12 DRC1 0 genome.wustl.edu 37 2 26663252 26663252 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 26663252 26663252 G A SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.895 p.E299K 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 tier1 - - 30 0 0.00 30 4 11.76 DRG2 0 genome.wustl.edu 37 17 18010524 18010524 + Nonstop_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 18010524 18010524 T C SNP DRG2 ENST00000583355 human ensembl 74_37 +1 putative nonstop c.484 p.*162R 0.045 NULL superfamily_P-loop_NTPase - no_errors DRG2 HGNC ENSG00000108591 tier1 - - 62 0 0.00 43 9 17.31 DSP 0 genome.wustl.edu 37 6 7583159 7583160 + Frame_Shift_Ins INS - - GA TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 7583159 7583160 - GA INS DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_ins c.5664_5665 p.K1891fs 0.129:0.999 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 81 0 0.00 77 13 14.44 DUOXA1 0 genome.wustl.edu 37 15 45411386 45411386 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 45411386 45411386 T C SNP DUOXA1 ENST00000267803 human ensembl 74_37 -1 known missense c.950 p.Q317R 0.996 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 tier1 - - 99 0 0.00 64 14 17.95 DUSP6 0 genome.wustl.edu 37 12 89744403 89744403 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 89744403 89744403 T G SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known missense c.800 p.N267T 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 tier1 - - 150 0 0.00 138 25 15.15 DYNC1H1 0 genome.wustl.edu 37 14 102445788 102445788 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 102445788 102445788 T - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.477 p.F161fs 0.979 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 128 0 0.00 125 21 14.38 DYNC1H1 0 genome.wustl.edu 37 14 102516189 102516189 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 102516189 102516189 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.13654 p.T4552A 0.665 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,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 74 0 0.00 60 8 11.59 EBF1 0 genome.wustl.edu 37 5 158139300 158139300 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 158139300 158139300 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1411 p.V471M 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 24 0 0.00 14 5 26.32 EBP 0 genome.wustl.edu 37 X 48382274 48382274 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 48382274 48382274 A G SNP EBP ENST00000495186 human ensembl 74_37 +1 known missense c.115 p.T39A 0.043 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 tier1 - - 131 0 0.00 116 40 25.48 ECI2 0 genome.wustl.edu 37 6 4125508 4125508 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 4125508 4125508 G A SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known silent c.771 p.F257 0.964 pfam_Crotonase_core_superfam pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 tier1 - - 116 0 0.00 87 22 20.18 EEFSEC 0 genome.wustl.edu 37 3 128126950 128126950 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 128126950 128126950 G A SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.1639 p.A547T 0.001 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 rs145560504 - 37 0 0.00 24 5 17.24 EGFLAM-AS1 0 genome.wustl.edu 37 5 38427415 38427415 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 38427415 38427415 A - DEL EGFLAM-AS1 ENST00000508986 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EGFLAM-AS1 HGNC ENSG00000249491 tier1 60 0 0.00 48 6 11.11 EIF1AD 0 genome.wustl.edu 37 11 65767548 65767548 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65767548 65767548 G A SNP EIF1AD ENST00000312234 human ensembl 74_37 -1 known missense c.172 p.R58C 1.000 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 - no_errors EIF1AD HGNC ENSG00000175376 tier1 - - 106 0 0.00 108 12 10.00 EIF2S3 0 genome.wustl.edu 37 X 24091437 24091437 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 24091437 24091437 A - DEL EIF2S3 ENST00000460032 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EIF2S3 HGNC ENSG00000130741 tier1 28 0 0.00 36 6 14.29 EIF3A 0 genome.wustl.edu 37 10 120801843 120801843 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 120801843 120801843 A G SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.3189 p.A1063 0.036 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 tier1 - - 200 0 0.00 174 32 15.38 EIF3B 0 genome.wustl.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 2404085 2404086 - G INS EIF3B ENST00000360876 human ensembl 74_37 +1 known frame_shift_ins c.1078_1079 p.E363fs 1.000:1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 tier1 112 0 0.00 110 47 29.94 EIF3E 0 genome.wustl.edu 37 8 109226918 109226918 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 109226918 109226918 C A SNP EIF3E ENST00000220849 human ensembl 74_37 -1 known missense c.979 p.A327S 1.000 pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 tier1 - - 118 0 0.00 140 22 13.50 EIF4EBP1 0 genome.wustl.edu 37 8 37914620 37914620 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 37914620 37914620 G A SNP EIF4EBP1 ENST00000338825 human ensembl 74_37 +1 known missense c.167 p.R56Q 0.999 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP1 HGNC ENSG00000187840 tier1 - - 104 0 0.00 102 14 12.07 EIF4G3 0 genome.wustl.edu 37 1 21226331 21226332 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 21226331 21226332 0 T INS EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_ins c.1708_1707 p.V569fs 0.001:0.003 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 172 0 0.00 196 22 10.09 ELMSAN1 0 genome.wustl.edu 37 14 74205402 74205402 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 74205402 74205402 A G SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1310 p.V437A 0.030 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 56 0 0.00 40 7 14.89 ENSG00000226200 0 genome.wustl.edu 37 10 52389386 52389386 + RNA SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 52389386 52389386 C G SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 - - 44 0 0.00 53 8 13.11 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263364 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 128263364 128263364 A - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 tier1 47 0 0.00 49 16 24.62 ENSG00000237568 0 genome.wustl.edu 37 1 89726358 89726358 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 89726358 89726358 A - DEL ENSG00000237568 ENST00000437128 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-620F22.2 Clone_based_vega_gene ENSG00000237568 tier1 53 0 0.00 76 15 16.48 ENSG00000259940 0 genome.wustl.edu 37 16 27226116 27226116 + RNA SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 27226116 27226116 G T SNP ENSG00000259940 ENST00000567108 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-3203P2.1 Clone_based_vega_gene ENSG00000259940 tier1 - - 24 0 0.00 20 4 16.67 ENSG00000260592 0 genome.wustl.edu 37 16 19498389 19498389 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 19498389 19498389 G A SNP ENSG00000260592 ENST00000561762 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-363E6.6 Clone_based_vega_gene ENSG00000260592 tier1 - - 30 0 0.00 26 7 21.21 ENSG00000262160 0 genome.wustl.edu 37 16 68260189 68260189 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 68260189 68260189 G A SNP ENSG00000262160 ENST00000571197 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-96D1.11 Clone_based_vega_gene ENSG00000262160 tier1 - - 35 0 0.00 39 9 18.75 ENSG00000266978 0 genome.wustl.edu 37 19 10362996 10362996 + RNA DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 10362996 10362996 G - DEL ENSG00000266978 ENST00000592893 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CTD-2369P2.5 Clone_based_vega_gene ENSG00000266978 tier1 54 0 0.00 48 11 18.64 ENTPD8 0 genome.wustl.edu 37 9 140330621 140330621 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 140330621 140330621 C T SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known silent c.894 p.P298 0.002 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 tier1 - - 51 0 0.00 59 14 19.18 EPB41L2 0 genome.wustl.edu 37 6 131199300 131199300 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 131199300 131199300 G A SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1987 p.R663C 1.000 pirsf_Band_41_protein,pfam_SAB_dom pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 rs140419333 - 80 0 0.00 64 15 18.75 EPG5 0 genome.wustl.edu 37 18 43535015 43535015 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 43535015 43535015 A G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.353 p.V118A 0.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 97 0 0.00 62 33 34.38 EPHA2 0 genome.wustl.edu 37 1 16460048 16460049 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 16460048 16460049 - G INS EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_ins c.1792_1791 p.N597fs 1.000:1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_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_Interferon_alpha/beta_rcpt_bsu,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 EPHA2 HGNC ENSG00000142627 tier1 53 0 0.00 28 9 24.32 EPHX1 0 genome.wustl.edu 37 1 226030177 226030177 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 226030177 226030177 T C SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known splice_site c.1040+2 e6+2 1.000 - - - no_errors EPHX1 HGNC ENSG00000143819 tier1 - - 42 0 0.00 28 7 20.00 EPS8L1 0 genome.wustl.edu 37 19 55593234 55593234 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 55593234 55593234 C T SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.868 p.R290C 0.844 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 33 0 0.00 29 5 14.71 ERBB2IP 0 genome.wustl.edu 37 5 65344558 65344558 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 65344558 65344558 G A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.1852 p.E618K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 63 0 0.00 52 11 17.46 ERGIC3 0 genome.wustl.edu 37 20 34144140 34144140 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 34144140 34144140 G A SNP ERGIC3 ENST00000482338 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ERGIC3 HGNC ENSG00000125991 tier1 - - 23 0 0.00 21 7 25.00 ERLIN1 0 genome.wustl.edu 37 10 101914623 101914623 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 101914623 101914623 T C SNP ERLIN1 ENST00000407654 human ensembl 74_37 -1 known silent c.819 p.S273 0.757 NULL pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 tier1 - - 32 0 0.00 32 5 13.51 ESF1 0 genome.wustl.edu 37 20 13714427 13714427 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 13714427 13714427 G T SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1891 p.P631T 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 tier1 - - 108 0 0.00 142 12 7.79 FADS3 0 genome.wustl.edu 37 11 61646921 61646924 + Frame_Shift_Del DEL CAAA CAAA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 61646921 61646924 CAAA - DEL FADS3 ENST00000278829 human ensembl 74_37 -1 known frame_shift_del c.385_382 p.F128fs 0.963:0.953:1.000:1.000 pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 tier1 14 0 0.00 0 6 100.00 FAM120A 0 genome.wustl.edu 37 9 96326578 96326578 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 96326578 96326578 C T SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.3197 p.S1066L 0.821 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 124 0 0.00 129 50 27.62 FAM13C 0 genome.wustl.edu 37 10 61012624 61012625 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 61012624 61012625 0 A INS FAM13C ENST00000373868 human ensembl 74_37 -1 known frame_shift_ins c.1467_1466 p.L489fs 0.549:0.905 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 75 0 0.00 82 8 8.89 FAM160B1 0 genome.wustl.edu 37 10 116608431 116608431 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 116608431 116608431 G A SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.1738 p.A580T 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 tier1 - - 45 0 0.00 36 5 12.20 FAM161B 0 genome.wustl.edu 37 14 74404384 74404384 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 74404384 74404384 G A SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known missense c.1775 p.A592V 1.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 tier1 rs150485088 - 113 0 0.00 127 22 14.77 FAM166B 0 genome.wustl.edu 37 9 35563352 35563352 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 35563352 35563352 C T SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.97 p.V33M 1.000 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 tier1 - - 22 0 0.00 43 9 17.31 FAM193A 0 genome.wustl.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 2661592 2661593 - C INS FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_ins c.683_684 p.V231fs 1.000:0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 117 0 0.00 109 22 16.79 FAM198B 0 genome.wustl.edu 37 4 159048620 159048620 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 159048620 159048620 G A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.1523 p.A508V 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 tier1 - - 179 0 0.00 93 53 36.05 FAM208B 0 genome.wustl.edu 37 10 5791421 5791421 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 5791421 5791421 A T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.6037 p.I2013F 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 119 0 0.00 107 27 20.15 FAM49A 0 genome.wustl.edu 37 2 16746920 16746920 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 16746920 16746920 G T SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known silent c.186 p.I62 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 tier1 - - 196 0 0.00 215 38 15.02 FAM71B 0 genome.wustl.edu 37 5 156592737 156592737 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 156592737 156592737 C T SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.443 p.R148H 0.897 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 129 0 0.00 88 17 16.04 FAM83C 0 genome.wustl.edu 37 20 33879972 33879972 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 33879972 33879972 G A SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.136 p.R46W 0.885 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 tier1 - - 24 0 0.00 22 4 15.38 FARP1 0 genome.wustl.edu 37 13 99092984 99092984 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 99092984 99092984 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2783 p.R928H 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 - - 38 0 0.00 46 9 16.36 FARP2 0 genome.wustl.edu 37 2 242375937 242375937 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 242375937 242375937 C T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.1142 p.A381V 0.013 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,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 FARP2 HGNC ENSG00000006607 tier1 - - 111 0 0.00 103 14 11.86 FASN 0 genome.wustl.edu 37 17 80050395 80050395 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 80050395 80050395 A G SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.965 p.I322T 0.332 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 12 0 0.00 9 4 30.77 FAT3 0 genome.wustl.edu 37 11 92614050 92614050 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 92614050 92614050 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12281 p.T4094M 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 150 0 0.00 177 28 13.66 FBRS 0 genome.wustl.edu 37 16 30680419 30680419 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 30680419 30680419 G A SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.2396 p.R799Q 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 9 0 0.00 15 5 25.00 FBXO11 0 genome.wustl.edu 37 2 48037533 48037533 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 48037533 48037533 C T SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.2260 p.A754T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 tier1 - - 67 0 0.00 58 16 21.33 FBXO36 0 genome.wustl.edu 37 2 230861641 230861641 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 230861641 230861641 T C SNP FBXO36 ENST00000283946 human ensembl 74_37 +1 known splice_site c.378+2 e3+2 1.000 - - - no_errors FBXO36 HGNC ENSG00000153832 tier1 - - 155 0 0.00 161 34 17.44 FGFR2 0 genome.wustl.edu 37 10 123276958 123276958 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 123276958 123276958 G A SNP FGFR2 ENST00000358487 human ensembl 74_37 -1 known missense c.959 p.T320M 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 tier1 - - 43 0 0.00 69 10 12.66 FIGF 0 genome.wustl.edu 37 X 15364159 15364159 + RNA DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 15364159 15364159 T - DEL FIGF ENST00000488351 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FIGF HGNC ENSG00000165197 tier1 46 0 0.00 41 23 35.94 FILIP1L 0 genome.wustl.edu 37 3 99569425 99569425 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 99569425 99569425 G A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known silent c.1095 p.N365 0.003 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 - - 261 0 0.00 276 63 18.58 FJX1 0 genome.wustl.edu 37 11 35641038 35641038 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 35641038 35641038 A G SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known missense c.854 p.D285G 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 tier1 - - 64 0 0.00 73 9 10.98 FKBP10 0 genome.wustl.edu 37 17 39976544 39976544 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 39976544 39976544 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.1087 p.V363M 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 67 0 0.00 69 17 19.77 FLG2 0 genome.wustl.edu 37 1 152324795 152324795 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 152324795 152324795 C T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5467 p.G1823R 0.000 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 270 0 0.00 243 53 17.91 FLT1 0 genome.wustl.edu 37 13 28885867 28885867 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 28885867 28885867 A G SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.3495 p.D1165 0.940 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 105 0 0.00 81 19 19.00 FLT3 0 genome.wustl.edu 37 13 28636185 28636185 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 28636185 28636185 G T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.187 p.L63I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 68 0 0.00 69 12 14.81 FOXF1 0 genome.wustl.edu 37 16 86544464 86544464 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 86544464 86544464 C T SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.289 p.R97C 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 tier1 - - 141 0 0.00 135 16 10.53 FOXJ3 0 genome.wustl.edu 37 1 42657170 42657171 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 42657170 42657171 - T INS FOXJ3 ENST00000361346 human ensembl 74_37 -1 known frame_shift_ins c.1155_1154 p.H385fs 0.999:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 tier1 192 0 0.00 128 15 10.49 FRAS1 0 genome.wustl.edu 37 4 79293925 79293925 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 79293925 79293925 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known nonsense c.2923 p.Q975* 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 115 0 0.00 87 18 17.14 FREM2 0 genome.wustl.edu 37 13 39261553 39261553 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 39261553 39261553 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.72 p.P24 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 17 0 0.00 8 6 42.86 FREM2 0 genome.wustl.edu 37 13 39420860 39420860 + Splice_Site SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 39420860 39420860 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known splice_site c.6169+1 e7+1 1.000 - - - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 95 0 0.00 77 19 19.59 FRMPD3 0 genome.wustl.edu 37 X 106845446 106845446 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 106845446 106845446 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.4276 p.R1426C 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 98 0 0.00 66 30 31.25 FRY 0 genome.wustl.edu 37 13 32811640 32811640 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 32811640 32811640 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known nonsense c.5935 p.Q1979* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 55 0 0.00 50 5 9.09 FXR1 0 genome.wustl.edu 37 3 180666158 180666158 + Silent SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 180666158 180666158 T A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known silent c.294 p.A98 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 66 0 0.00 84 17 16.83 FZD4 0 genome.wustl.edu 37 11 86662342 86662342 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 86662342 86662342 A C SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known missense c.1456 p.L486V 0.998 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 tier1 - - 100 0 0.00 105 20 15.87 GABBR1 0 genome.wustl.edu 37 6 29598330 29598330 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 29598330 29598330 A G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.380 p.V127A 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 66 0 0.00 63 11 14.86 GABBR2 0 genome.wustl.edu 37 9 101073472 101073472 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 101073472 101073472 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.1909 p.R637W 0.960 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 33 0 0.00 41 8 16.33 GABRQ 0 genome.wustl.edu 37 X 151806715 151806715 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 151806715 151806715 T G SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.59 p.L20R 0.985 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 tier1 - - 115 0 0.00 100 12 10.71 GAL3ST1 0 genome.wustl.edu 37 22 30951242 30951242 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 30951242 30951242 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.970 p.R324W 0.304 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 26 0 0.00 25 6 19.35 GALNT10 0 genome.wustl.edu 37 5 153765941 153765941 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 153765941 153765941 A G SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.1007 p.D336G 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 119 0 0.00 74 20 21.28 GALNT13 0 genome.wustl.edu 37 2 155295134 155295134 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 155295134 155295134 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known nonsense c.1426 p.R476* 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 GALNT13 HGNC ENSG00000144278 tier1 - - 103 0 0.00 88 20 18.35 GBA2 0 genome.wustl.edu 37 9 35738603 35738603 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 35738603 35738603 A G SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known silent c.1992 p.F664 1.000 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 - - 93 0 0.00 86 17 16.50 GBP6 0 genome.wustl.edu 37 1 89850819 89850821 + In_Frame_Del DEL AAG AAG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 89850819 89850821 AAG - DEL GBP6 ENST00000370456 human ensembl 74_37 +1 known in_frame_del c.1693_1695 p.K567in_frame_del 0.478:0.000:0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 tier1 99 0 0.00 82 22 21.15 GCSH 0 genome.wustl.edu 37 16 81121264 81121264 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 81121264 81121264 C T SNP GCSH ENST00000315467 human ensembl 74_37 -1 known silent c.234 p.A78 0.949 pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub - no_errors GCSH HGNC ENSG00000140905 tier1 - - 79 0 0.00 64 9 12.33 GDF2 0 genome.wustl.edu 37 10 48416412 48416413 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 48416412 48416413 - T INS GDF2 ENST00000249598 human ensembl 74_37 -1 known frame_shift_ins c.282_281 p.N94fs 1.000:1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 108 0 0.00 76 21 21.65 GFM1 0 genome.wustl.edu 37 3 158363453 158363453 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 158363453 158363453 G A SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.117 p.G39 0.003 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 90 0 0.00 68 6 8.11 GLB1L 0 genome.wustl.edu 37 2 220103038 220103038 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 220103038 220103038 A - DEL GLB1L ENST00000295759 human ensembl 74_37 -1 known frame_shift_del c.1275 p.F425fs 0.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 tier1 102 0 0.00 99 18 15.38 GLCE 0 genome.wustl.edu 37 15 69548164 69548164 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 69548164 69548164 C T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.19 p.R7W 1.000 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 tier1 - - 81 0 0.00 85 19 18.27 GLI2 0 genome.wustl.edu 37 2 121747346 121747346 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 121747346 121747346 A G SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.3856 p.T1286A 0.945 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 44 0 0.00 37 7 15.91 GLI3 0 genome.wustl.edu 37 7 42005120 42005120 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 42005120 42005120 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3551 p.A1184V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 156 0 0.00 132 50 27.47 GLI3 0 genome.wustl.edu 37 7 42006001 42006001 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 42006001 42006001 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2670 p.S890 0.969 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 39 0 0.00 39 13 25.00 GLMN 0 genome.wustl.edu 37 1 92737111 92737113 + In_Frame_Del DEL TTC TTC - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 92737111 92737113 TTC - DEL GLMN ENST00000370360 human ensembl 74_37 -1 known in_frame_del c.834_832 p.E278in_frame_del 0.989:1.000:1.000 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 tier1 107 0 0.00 101 13 11.40 GLYR1 0 genome.wustl.edu 37 16 4862229 4862229 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 4862229 4862229 C - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.1140 p.R381fs 0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 tier1 29 0 0.00 40 8 16.67 GML 0 genome.wustl.edu 37 8 143927872 143927872 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 143927872 143927872 T C SNP GML ENST00000220940 human ensembl 74_37 +1 known silent c.243 p.Y81 0.000 smart_LY6_UPA_recep-like smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 tier1 - - 64 0 0.00 94 18 16.07 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 tier1 96 0 0.00 95 15 13.64 GPATCH2L 0 genome.wustl.edu 37 14 76621076 76621076 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 76621076 76621076 C T SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known nonsense c.370 p.R124* 0.996 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 tier1 - - 81 0 0.00 68 20 22.73 GPCPD1 0 genome.wustl.edu 37 20 5554685 5554685 + RNA SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 5554685 5554685 A G SNP GPCPD1 ENST00000473797 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPCPD1 HGNC ENSG00000125772 tier1 - - 24 0 0.00 27 7 20.59 GPNMB 0 genome.wustl.edu 37 7 23293879 23293879 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 23293879 23293879 C T SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known silent c.315 p.C105 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 tier1 - - 94 0 0.00 83 49 37.12 GPR112 0 genome.wustl.edu 37 X 135485417 135485417 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 135485417 135485417 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.8590 p.M2864V 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 68 0 0.00 51 16 23.88 GPR119 0 genome.wustl.edu 37 X 129518617 129518617 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 129518617 129518617 C T SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.805 p.V269M 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 tier1 - - 88 0 0.00 93 13 12.26 GPR179 0 genome.wustl.edu 37 17 36487231 36487231 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 36487231 36487231 G T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.2221 p.P741T 0.002 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 24 0 0.00 19 5 20.00 GPR25 0 genome.wustl.edu 37 1 200843108 200843108 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 200843108 200843108 C T SNP GPR25 ENST00000304244 human ensembl 74_37 +1 known nonsense c.943 p.R315* 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 tier1 - - 48 0 0.00 29 10 25.64 GPR31 0 genome.wustl.edu 37 6 167571126 167571126 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 167571126 167571126 G T SNP GPR31 ENST00000366834 human ensembl 74_37 -1 known missense c.194 p.A65E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 tier1 - - 43 0 0.00 24 6 20.00 GPR45 0 genome.wustl.edu 37 2 105859057 105859057 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 105859057 105859057 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.742 p.R248C 0.575 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 - - 154 0 0.00 142 31 17.92 GPR63 0 genome.wustl.edu 37 6 97246625 97246625 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 97246625 97246625 G A SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known missense c.983 p.A328V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 tier1 - - 67 0 0.00 59 12 16.90 GPRC5A 0 genome.wustl.edu 37 12 13061473 13061473 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 13061473 13061473 G A SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known missense c.290 p.R97H 1.000 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 tier1 rs201358570 - 182 0 0.00 177 26 12.81 GRB14 0 genome.wustl.edu 37 2 165365287 165365288 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 165365287 165365288 - T INS GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_ins c.892_891 p.H297fs 0.105:0.015 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 101 0 0.00 113 19 14.39 GRHL1 0 genome.wustl.edu 37 2 10104056 10104056 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 10104056 10104056 G A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.788 p.R263Q 0.996 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 tier1 - - 75 0 0.00 59 11 15.71 GRIN2B 0 genome.wustl.edu 37 12 14018982 14018982 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 14018982 14018982 T C SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.161 p.H54R 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 78 0 0.00 102 13 11.30 GRM7 0 genome.wustl.edu 37 3 7620148 7620148 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 7620148 7620148 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1555 p.P519S 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 50 0 0.00 53 5 8.62 GTF2H1 0 genome.wustl.edu 37 11 18359664 18359666 + In_Frame_Del DEL AAG AAG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 18359664 18359666 AAG - DEL GTF2H1 ENST00000265963 human ensembl 74_37 +1 known in_frame_del c.356_358 p.E120in_frame_del 1.000:1.000:1.000 pfam_BSD,smart_BSD,pfscan_BSD pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD - no_errors GTF2H1 HGNC ENSG00000110768 tier1 104 0 0.00 117 17 12.69 GTF3C3 0 genome.wustl.edu 37 2 197631288 197631288 + Splice_Site SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 197631288 197631288 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known splice_site c.2538+1 e17+1 1.000 - - - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 52 0 0.00 55 5 8.33 GTPBP3 0 genome.wustl.edu 37 19 17448933 17448933 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 17448933 17448933 C G SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.170 p.A57G 0.996 pfam_GTP-bd_TrmE_N pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 tier1 - - 25 0 0.00 16 4 20.00 GUCY2C 0 genome.wustl.edu 37 12 14835998 14835998 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 14835998 14835998 T A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.589 p.T197S 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 - - 45 0 0.00 56 12 17.65 GUF1 0 genome.wustl.edu 37 4 44700615 44700615 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 44700615 44700615 A - DEL GUF1 ENST00000281543 human ensembl 74_37 +1 known frame_shift_del c.1927 p.K645fs 0.999 pfam_LepA_GTP-bd_C,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 tier1 69 0 0.00 55 25 31.25 H19 0 genome.wustl.edu 37 11 2016846 2016846 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 2016846 2016846 G A SNP H19 ENST00000411754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC ENSG00000130600 tier1 - - 41 0 0.00 58 9 13.43 H2AFB1 0 genome.wustl.edu 37 X 154113528 154113528 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 154113528 154113528 G A SNP H2AFB1 ENST00000354461 human ensembl 74_37 +1 known silent c.204 p.P68 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFB1 HGNC ENSG00000198082 tier1 - - 125 0 0.00 116 29 20.00 H2AFV 0 genome.wustl.edu 37 7 44874134 44874135 + Frame_Shift_Del DEL AG AG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 44874134 44874135 AG - DEL H2AFV ENST00000308153 human ensembl 74_37 -1 known frame_shift_del c.353_352 p.L118fs 1.000:1.000 smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFV HGNC ENSG00000105968 tier1 71 0 0.00 56 10 15.15 HAUS3 0 genome.wustl.edu 37 4 2242013 2242014 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 2242013 2242014 - T INS HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_ins c.661_660 p.Q220fs 1.000:0.839 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 tier1 24 0 0.00 27 3 10.00 HCK 0 genome.wustl.edu 37 20 30659531 30659531 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 30659531 30659531 C T SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.129 p.S43 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 tier1 - - 51 0 0.00 54 8 12.70 HECW1 0 genome.wustl.edu 37 7 43484795 43484795 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 43484795 43484795 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.2024 p.A675V 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 57 0 0.00 29 8 21.62 HERC1 0 genome.wustl.edu 37 15 63970434 63970434 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 63970434 63970434 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.6680 p.D2227G 1.000 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 - - 27 0 0.00 31 5 13.89 HERC1 0 genome.wustl.edu 37 15 64067604 64067604 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 64067604 64067604 A G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.219 p.D73 1.000 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 - - 46 0 0.00 23 6 20.69 HERC2 0 genome.wustl.edu 37 15 28499629 28499629 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 28499629 28499629 T - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.2907 p.E970fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 50 0 0.00 65 7 9.72 HERC5 0 genome.wustl.edu 37 4 89381266 89381266 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 89381266 89381266 A - DEL HERC5 ENST00000264350 human ensembl 74_37 +1 known frame_shift_del c.410 p.I140fs 1.000 superfamily_RCC1/BLIP-II,prints_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 tier1 46 0 0.00 51 27 34.62 HFM1 0 genome.wustl.edu 37 1 91851162 91851162 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 91851162 91851162 A - DEL HFM1 ENST00000370425 human ensembl 74_37 -1 known frame_shift_del c.724 p.S242fs 0.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 74 0 0.00 49 14 22.22 HIRA 0 genome.wustl.edu 37 22 19418978 19418978 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 19418978 19418978 A G SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.22 p.W8R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 tier1 - - 63 0 0.00 57 11 16.18 HIST1H1D 0 genome.wustl.edu 37 6 26234918 26234918 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 26234918 26234918 T C SNP HIST1H1D ENST00000244534 human ensembl 74_37 -1 known missense c.244 p.K82E 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 HIST1H1D HGNC ENSG00000124575 tier1 - - 164 0 0.00 128 28 17.95 HLA-A 0 genome.wustl.edu 37 6 29911960 29911960 + Nonsense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 29911960 29911960 C A SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known nonsense c.681 p.C227* 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 - - 164 0 0.00 166 32 16.16 HLA-DQA2 0 genome.wustl.edu 37 6 32713171 32713171 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 32713171 32713171 C T SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known silent c.318 p.T106 0.141 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 - - 71 0 0.00 100 14 12.28 HLA-L 0 genome.wustl.edu 37 6 30229062 30229062 + RNA SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 30229062 30229062 C A SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.894 - - - no_errors HLA-L HGNC ENSG00000243753 tier1 - - 137 0 0.00 91 24 20.87 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 10 0 0.00 9 6 40.00 HMBOX1 0 genome.wustl.edu 37 8 28908612 28908612 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 28908612 28908612 C A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known silent c.1272 p.I424 1.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 - - 58 0 0.00 94 15 13.76 HNRNPAB 0 genome.wustl.edu 37 5 177637217 177637217 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 177637217 177637217 G A SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.872 p.G291D 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 tier1 - - 54 0 0.00 61 8 11.59 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 43283606 43283606 A - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 tier1 16 0 0.00 6 4 40.00 HPSE 0 genome.wustl.edu 37 4 84227446 84227446 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 84227446 84227446 T C SNP HPSE ENST00000311412 human ensembl 74_37 -1 known silent c.1116 p.S372 0.068 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 tier1 - - 160 0 0.00 128 31 19.50 HS3ST1 0 genome.wustl.edu 37 4 11401183 11401183 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 11401183 11401183 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.447 p.P149 0.995 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 63 0 0.00 53 18 25.35 HSPA12A 0 genome.wustl.edu 37 10 118434574 118434574 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 118434574 118434574 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known silent c.1746 p.E582 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 50 0 0.00 53 6 10.17 HSPA2 0 genome.wustl.edu 37 14 65008762 65008762 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 65008762 65008762 G A SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.1195 p.V399M 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 71 0 0.00 69 15 17.86 HUNK 0 genome.wustl.edu 37 21 33331187 33331187 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 33331187 33331187 C T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.779 p.T260M 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_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 135 0 0.00 107 19 15.08 HYDIN 0 genome.wustl.edu 37 16 71007853 71007854 + Frame_Shift_Ins INS - - GA TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 71007853 71007854 0 GA INS HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_ins c.5108_5107 p.R1703fs 0.000:0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 87 0 0.00 97 6 5.83 IDH3G 0 genome.wustl.edu 37 X 153052940 153052940 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 153052940 153052940 G A SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known missense c.653 p.A218V 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 tier1 - - 87 0 0.00 78 23 22.55 IFRD2 0 genome.wustl.edu 37 3 50327646 50327646 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 50327646 50327646 G A SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known missense c.841 p.R281C 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 tier1 - - 31 0 0.00 17 4 19.05 IFT172 0 genome.wustl.edu 37 2 27672926 27672926 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 27672926 27672926 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.3989 p.R1330H 0.993 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 rs202236985 - 37 0 0.00 50 8 13.79 IGF2BP1 0 genome.wustl.edu 37 17 47115648 47115648 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 47115648 47115648 C T SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.520 p.R174W 0.998 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 68 0 0.00 48 9 15.52 IGFLR1 0 genome.wustl.edu 37 19 36230925 36230925 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 36230925 36230925 T C SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known missense c.407 p.Q136R 0.129 NULL superfamily_DEATH-like_dom - no_errors IGFLR1 HGNC ENSG00000126246 tier1 - - 51 0 0.00 30 10 25.00 IGSF9 0 genome.wustl.edu 37 1 159904474 159904474 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 159904474 159904474 A G SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.812 p.I271T 0.959 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 tier1 - - 78 0 0.00 75 18 19.35 IL17RB 0 genome.wustl.edu 37 3 53883767 53883767 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 53883767 53883767 T C SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known silent c.171 p.V57 0.000 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 tier1 - - 182 0 0.00 107 40 27.21 IL36RN 0 genome.wustl.edu 37 2 113820106 113820106 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 113820106 113820106 T A SNP IL36RN ENST00000346807 human ensembl 74_37 +1 known missense c.320 p.L107H 0.934 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_alpha/beta pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_alpha/beta - no_errors IL36RN HGNC ENSG00000136695 tier1 - - 67 0 0.00 53 7 11.48 IL4I1 0 genome.wustl.edu 37 19 50399229 50399229 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 50399229 50399229 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.161 p.P54L 0.977 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 tier1 - - 122 0 0.00 116 14 10.77 INO80 0 genome.wustl.edu 37 15 41373222 41373222 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 41373222 41373222 C T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.923 p.R308Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 tier1 - - 91 0 0.00 95 27 22.13 INTS4 0 genome.wustl.edu 37 11 77612530 77612530 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 77612530 77612530 A T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.2165 p.I722K 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 151 0 0.00 141 31 18.02 IPO8 0 genome.wustl.edu 37 12 30790054 30790054 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 30790054 30790054 C T SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.2557 p.A853T 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 tier1 - - 130 0 0.00 125 24 15.79 IRF2 0 genome.wustl.edu 37 4 185329341 185329341 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 185329341 185329341 T - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.500 p.N167fs 0.996 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 tier1 76 0 0.00 83 35 29.66 ITGA2B 0 genome.wustl.edu 37 17 42462546 42462546 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 42462546 42462546 C T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.656 p.G219D 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 74 0 0.00 68 10 12.82 ITGA5 0 genome.wustl.edu 37 12 54797443 54797443 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 54797443 54797443 C T SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.1742 p.R581Q 0.888 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 tier1 - - 88 0 0.00 84 19 18.45 ITGA7 0 genome.wustl.edu 37 12 56092603 56092603 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 56092603 56092603 G T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.1021 p.L341M 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 33 0 0.00 35 12 25.53 ITGB4 0 genome.wustl.edu 37 17 73729696 73729696 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 73729696 73729696 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.1580 p.G527D 0.927 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 52 0 0.00 54 12 18.18 ITSN2 0 genome.wustl.edu 37 2 24521656 24521656 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 24521656 24521656 G A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.1372 p.R458C 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 tier1 - - 189 0 0.00 141 20 12.42 JAG1 0 genome.wustl.edu 37 20 10653519 10653519 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 10653519 10653519 T C SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.217 p.T73A 1.000 pfam_Notch_ligand_N pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 62 0 0.00 62 14 18.18 JARID2 0 genome.wustl.edu 37 6 15410541 15410541 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 15410541 15410541 T C SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.268 p.S90P 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 90 0 0.00 105 24 18.32 JARID2 0 genome.wustl.edu 37 6 15487611 15487611 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 15487611 15487611 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.744 p.P248 0.974 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 rs147119452 - 80 0 0.00 49 10 16.95 JARID2 0 genome.wustl.edu 37 6 15513219 15513220 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 15513219 15513220 - A INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.3209_3210 p.E1073fs 1.000:0.269 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 143 0 0.00 118 22 15.71 JMJD1C 0 genome.wustl.edu 37 10 64968499 64968499 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 64968499 64968499 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.2930 p.N977fs 0.979 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 106 0 0.00 108 20 15.62 JMJD4 0 genome.wustl.edu 37 1 227920189 227920189 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 227920189 227920189 G A SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.1296 p.P432 0.426 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 tier1 - - 52 0 0.00 49 14 22.22 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42134464 42134466 + In_Frame_Del DEL CCA CCA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 42134464 42134466 CCA - DEL JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known in_frame_del c.1388_1390 p.T464in_frame_del 0.996:0.855:0.770 smart_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 73 0 0.00 61 17 21.79 KAT5 0 genome.wustl.edu 37 11 65480402 65480402 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65480402 65480402 G A SNP KAT5 ENST00000341318 human ensembl 74_37 +1 known missense c.257 p.R86H 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 tier1 - - 62 0 0.00 68 17 20.00 KAT6A 0 genome.wustl.edu 37 8 41791349 41791349 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 41791349 41791349 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.4389 p.D1463 0.041 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 tier1 - - 81 0 0.00 84 14 14.29 KCNB2 0 genome.wustl.edu 37 8 73848485 73848485 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 73848485 73848485 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.895 p.V299M 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 66 0 0.00 76 9 10.59 KCNH8 0 genome.wustl.edu 37 3 19554727 19554728 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 19554727 19554728 - C INS KCNH8 ENST00000328405 human ensembl 74_37 +1 known frame_shift_ins c.2345_2346 p.N785fs 0.511:0.020 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 87 0 0.00 69 13 15.85 KCNJ2 0 genome.wustl.edu 37 17 68171193 68171193 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 68171193 68171193 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known nonsense c.13 p.R5* 1.000 pfam_K_chnl_inward-rec_Kir_N,prints_K_chnl_inward-rec_Kir2.1 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_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 44 0 0.00 32 7 17.95 KCTD6 0 genome.wustl.edu 37 3 58486928 58486928 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 58486928 58486928 T C SNP KCTD6 ENST00000355076 human ensembl 74_37 +1 known missense c.283 p.F95L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD6 HGNC ENSG00000168301 tier1 - - 125 0 0.00 91 30 24.79 KDM3A 0 genome.wustl.edu 37 2 86705842 86705842 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 86705842 86705842 A C SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.2300 p.K767T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 139 0 0.00 106 29 21.48 KDM3B 0 genome.wustl.edu 37 5 137721747 137721749 + In_Frame_Del DEL AAG AAG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 137721747 137721749 AAG - DEL KDM3B ENST00000314358 human ensembl 74_37 +1 known in_frame_del c.817_819 p.K275in_frame_del 1.000:1.000:1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 122 0 0.00 130 20 13.33 KDM4D 0 genome.wustl.edu 37 11 94730807 94730807 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 94730807 94730807 A - DEL KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_del c.271 p.K93fs 0.600 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 tier1 89 0 0.00 106 20 15.87 KDM4D 0 genome.wustl.edu 37 11 94731152 94731152 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 94731152 94731152 C A SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.616 p.L206I 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 tier1 - - 125 0 0.00 113 20 15.04 KDM5A 0 genome.wustl.edu 37 12 420115 420115 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 420115 420115 C T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.3152 p.R1051Q 0.984 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 rs200720917 - 118 0 0.00 130 18 12.16 KDM5B 0 genome.wustl.edu 37 1 202698171 202698171 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 202698171 202698171 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.4736 p.R1579Q 1.000 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 171 0 0.00 154 44 22.22 KDM5B 0 genome.wustl.edu 37 1 202705511 202705511 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 202705511 202705511 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3202 p.R1068C 0.999 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 74 0 0.00 60 20 25.00 KDR 0 genome.wustl.edu 37 4 55946178 55946178 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 55946178 55946178 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.4001 p.V1334A 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 193 0 0.00 137 72 34.12 KIAA0556 0 genome.wustl.edu 37 16 27789226 27789226 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 27789226 27789226 C A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.4737 p.V1579 0.994 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 119 0 0.00 99 12 10.81 KIAA0947 0 genome.wustl.edu 37 5 5462462 5462462 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 5462462 5462462 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.3015 p.A1005 0.001 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 49 0 0.00 37 6 13.95 KIAA1033 0 genome.wustl.edu 37 12 105519872 105519872 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 105519872 105519872 C T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.877 p.R293W 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 56 0 0.00 50 25 33.33 KIAA1199 0 genome.wustl.edu 37 15 81235428 81235428 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 81235428 81235428 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3842 p.A1281V 0.047 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 tier1 - - 343 0 0.00 277 53 16.01 KIAA1217 0 genome.wustl.edu 37 10 24809079 24809081 + In_Frame_Del DEL GAA GAA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 24809079 24809081 GAA - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known in_frame_del c.2205_2207 p.K737in_frame_del 1.000:1.000:1.000 pfam_AIP3_C pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 149 0 0.00 136 27 16.56 KIAA1324 0 genome.wustl.edu 37 1 109727749 109727749 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 109727749 109727749 C T SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known silent c.1035 p.N345 0.992 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 tier1 - - 105 0 0.00 74 18 19.57 KIAA1549L 0 genome.wustl.edu 37 11 33628255 33628255 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 33628255 33628255 T C SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4075 p.F1359L 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 30 0 0.00 31 9 22.50 KIAA1683 0 genome.wustl.edu 37 19 18376107 18376107 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 18376107 18376107 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.2243 p.P748L 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 tier1 - - 102 0 0.00 95 21 17.95 KIAA1683 0 genome.wustl.edu 37 19 18377588 18377588 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 18377588 18377588 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.762 p.D254 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 tier1 rs146116362 - 97 0 0.00 87 21 19.44 KIAA1715 0 genome.wustl.edu 37 2 176802238 176802238 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 176802238 176802238 A - DEL KIAA1715 ENST00000544803 human ensembl 74_37 -1 known frame_shift_del c.981 p.R328fs 1.000 pfam_DUF2296 pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 tier1 42 0 0.00 29 9 23.68 KIF18A 0 genome.wustl.edu 37 11 28119319 28119319 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 28119319 28119319 G A SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.176 p.T59I 0.007 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 tier1 - - 77 0 0.00 91 31 25.41 KIF2B 0 genome.wustl.edu 37 17 51901222 51901222 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 51901222 51901222 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.828 p.N276 0.650 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 66 0 0.00 50 19 27.54 KIF4B 0 genome.wustl.edu 37 5 154396977 154396977 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 154396977 154396977 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known silent c.3558 p.A1186 0.029 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 49 0 0.00 48 8 14.29 KIF9 0 genome.wustl.edu 37 3 47277999 47277999 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 47277999 47277999 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.2035 p.D679N 0.972 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 tier1 - - 62 0 0.00 33 12 26.67 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 66824 66825 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb GL000209.1 66824 66825 - A INS KIR2DL2 ENST00000400851 human ensembl 74_37 +1 known frame_shift_ins c.795_796 p.K268fs NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 20 0 0.00 25 2 7.41 KIRREL 0 genome.wustl.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 158058203 158058203 C - DEL KIRREL ENST00000368173 human ensembl 74_37 +1 known frame_shift_del c.1003 p.L337fs 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 80 0 0.00 87 10 10.31 KLC3 0 genome.wustl.edu 37 19 45850756 45850756 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 45850756 45850756 G A SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.583 p.E195K 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 tier1 - - 46 0 0.00 57 10 14.93 KLHDC7B 0 genome.wustl.edu 37 22 50987901 50987901 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 50987901 50987901 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1306 p.A436T 0.088 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 tier1 rs144157815 - 98 0 0.00 115 32 21.77 KLHL15 0 genome.wustl.edu 37 X 24006374 24006374 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 24006374 24006374 G A SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known silent c.1479 p.F493 0.039 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 tier1 rs143805033 - 136 0 0.00 124 59 32.24 KLHL17 0 genome.wustl.edu 37 1 899380 899380 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 899380 899380 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1436 p.A479V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 tier1 - - 127 0 0.00 108 26 19.40 KLHL26 0 genome.wustl.edu 37 19 18779692 18779692 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 18779692 18779692 C T SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known silent c.1485 p.S495 0.989 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 tier1 - - 80 0 0.00 62 14 18.42 KLHL32 0 genome.wustl.edu 37 6 97578819 97578819 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 97578819 97578819 C T SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.1600 p.L534 0.597 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 tier1 - - 111 0 0.00 110 25 18.52 KMT2C 0 genome.wustl.edu 37 7 151851352 151851352 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 151851352 151851352 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.12310 p.S4104fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 74 0 0.00 54 17 23.94 KMT2D 0 genome.wustl.edu 37 12 49448480 49448480 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 49448480 49448480 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.231 p.H77fs 0.908 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 23 0 0.00 25 9 26.47 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 tier1 17 0 0.00 23 3 11.54 KREMEN1 0 genome.wustl.edu 37 22 29538079 29538079 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 29538079 29538079 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known silent c.1407 p.R469 0.558 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 111 0 0.00 59 14 19.18 KRT19 0 genome.wustl.edu 37 17 39680441 39680441 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 39680441 39680441 C T SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known missense c.902 p.R301H 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 tier1 - - 53 0 0.00 24 9 27.27 KRT75 0 genome.wustl.edu 37 12 52826912 52826912 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 52826912 52826912 C T SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.623 p.R208Q 0.991 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 tier1 - - 106 0 0.00 140 26 15.66 KRT79 0 genome.wustl.edu 37 12 53225281 53225281 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 53225281 53225281 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.607 p.R203W 1.000 pfam_IF,superfamily_STAT_TF_coiled-coil pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 tier1 - - 98 0 0.00 119 19 13.77 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 29 0 0.00 28 6 17.65 KTN1 0 genome.wustl.edu 37 14 56103231 56103231 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 56103231 56103231 C T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.1526 p.A509V 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 15 0 0.00 26 4 13.33 LAMA2 0 genome.wustl.edu 37 6 129381043 129381043 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 129381043 129381043 T C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known splice_site c.396+2 e3+2 1.000 - - - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 32 0 0.00 27 5 15.62 LAMA4 0 genome.wustl.edu 37 6 112496514 112496514 + Splice_Site SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 112496514 112496514 C T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known splice_site c.1357+1 e10+1 0.993 - - - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 97 0 0.00 96 18 15.79 LAMC1 0 genome.wustl.edu 37 1 183084684 183084684 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 183084684 183084684 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1240 p.G414S 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 87 0 0.00 126 14 10.00 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 76 0 0.00 80 12 13.04 LDLR 0 genome.wustl.edu 37 19 11213382 11213382 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 11213382 11213382 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.233 p.R78H 0.516 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 tier1 rs146675823 - 204 0 0.00 188 29 13.36 LILRA4 0 genome.wustl.edu 37 19 54848153 54848153 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 54848153 54848153 A C SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.1214 p.L405R 0.073 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 115 0 0.00 94 16 14.55 LIMA1 0 genome.wustl.edu 37 12 50571027 50571027 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 50571027 50571027 T A SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.2103 p.Q701H 0.007 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 209 0 0.00 269 45 14.33 LLGL2 0 genome.wustl.edu 37 17 73552159 73552159 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 73552159 73552159 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.108 p.S36 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 104 0 0.00 87 11 11.22 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 tier1 104 0 0.00 125 22 14.97 LMO3 0 genome.wustl.edu 37 12 16713457 16713457 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 16713457 16713457 C T SNP LMO3 ENST00000453727 human ensembl 74_37 -1 known missense c.163 p.G55R 0.843 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 tier1 - - 54 0 0.00 80 15 15.79 LMOD1 0 genome.wustl.edu 37 1 201868894 201868894 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 201868894 201868894 G A SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.1247 p.T416M 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 42 0 0.00 42 8 16.00 LNPEP 0 genome.wustl.edu 37 5 96329605 96329605 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 96329605 96329605 A G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.1337 p.D446G 0.997 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 114 0 0.00 90 20 18.18 LOC100127967 0 genome.wustl.edu 37 12 53008502 53008502 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 53008502 53008502 C T SNP LOC100127967 ENST00000552364 human ensembl 74_37 +1 known rna NULL NULL 0.149 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 tier1 - - 29 0 0.00 30 8 21.05 LOC100996348 0 genome.wustl.edu 37 8 86354286 86354287 + RNA INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 86354286 86354287 - T INS LOC100996348 ENST00000517697 human ensembl 74_37 -1 known rna NULL NULL 0.249:0.275 - - - no_errors RP11-317J10.2 Clone_based_vega_gene ENSG00000253549 tier1 92 0 0.00 127 15 10.56 LOC101927958 0 genome.wustl.edu 37 2 239141128 239141128 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 239141128 239141128 C T SNP LOC101927958 ENST00000456601 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 tier1 - - 88 0 0.00 49 8 14.04 LOC440040 0 genome.wustl.edu 37 11 49831504 49831504 + RNA SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 49831504 49831504 T C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.499 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 57 0 0.00 33 5 13.16 LPCAT2 0 genome.wustl.edu 37 16 55616974 55616974 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 55616974 55616974 G T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1599 p.K533N 0.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 71 0 0.00 52 13 20.00 LPPR2 0 genome.wustl.edu 37 19 11472121 11472121 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 11472121 11472121 G A SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known missense c.545 p.C182Y 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 tier1 - - 60 0 0.00 47 13 21.67 LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 67 0 0.00 70 9 11.39 LRP1B 0 genome.wustl.edu 37 2 141762960 141762960 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 141762960 141762960 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2447 p.R816L 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 - - 88 0 0.00 77 17 18.09 LRRC28 0 genome.wustl.edu 37 15 99901564 99901564 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 99901564 99901564 C T SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known missense c.719 p.S240F 0.978 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 134 0 0.00 99 24 19.51 LRRC31 0 genome.wustl.edu 37 3 169587562 169587562 + Nonsense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 169587562 169587562 C A SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known nonsense c.34 p.G12* 0.032 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 tier1 - - 91 0 0.00 99 16 13.91 LRRC7 0 genome.wustl.edu 37 1 70505015 70505015 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 70505015 70505015 A G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3394 p.N1132D 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 110 0 0.00 102 22 17.74 LRRTM1 0 genome.wustl.edu 37 2 80529630 80529632 + In_Frame_Del DEL AGG AGG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 80529630 80529632 AGG 0 DEL LRRTM1 ENST00000295057 human ensembl 74_37 -1 known in_frame_del c.1315_1313 p.S438in_frame_del 1.000:1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 67 0 0.00 62 5 7.46 LRWD1 0 genome.wustl.edu 37 7 102108766 102108766 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 102108766 102108766 C - DEL LRWD1 ENST00000292616 human ensembl 74_37 +1 known frame_shift_del c.861 p.Q289fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 tier1 16 0 0.00 23 8 25.81 LTBP3 0 genome.wustl.edu 37 11 65319844 65319844 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65319844 65319844 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1220 p.R407H 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 rs147206443 - 82 0 0.00 81 23 22.12 LUZP1 0 genome.wustl.edu 37 1 23419328 23419328 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 23419328 23419328 C T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.1427 p.R476H 1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 tier1 - - 186 0 0.00 146 27 15.61 LUZP1 0 genome.wustl.edu 37 1 23419981 23419981 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 23419981 23419981 C A SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.774 p.K258N 1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 tier1 - - 85 0 0.00 62 18 22.50 MAG 0 genome.wustl.edu 37 19 35801515 35801515 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 35801515 35801515 A G SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1585 p.I529V 0.982 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 - - 46 0 0.00 41 10 19.61 MAGEB6 0 genome.wustl.edu 37 X 26212381 26212381 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 26212381 26212381 C A SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.418 p.H140N 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 102 0 0.00 83 15 15.31 MAGEC1 0 genome.wustl.edu 37 X 140994081 140994081 + Silent SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 140994081 140994081 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.891 p.G297 0.054 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 406 0 0.00 523 44 7.76 MAGEF1 0 genome.wustl.edu 37 3 184428950 184428950 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 184428950 184428950 C T SNP MAGEF1 ENST00000317897 human ensembl 74_37 -1 known silent c.660 p.Q220 0.130 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEF1 HGNC ENSG00000177383 tier1 - - 116 0 0.00 95 36 27.48 MAGI3 0 genome.wustl.edu 37 1 114201838 114201838 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 114201838 114201838 G T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known silent c.2766 p.L922 0.994 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 tier1 - - 104 0 0.00 100 15 13.04 MAK 0 genome.wustl.edu 37 6 10775640 10775640 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 10775640 10775640 G T SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.1518 p.P506 0.000 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 MAK HGNC ENSG00000111837 tier1 - - 316 0 0.00 241 61 20.20 MALAT1 0 genome.wustl.edu 37 11 65265830 65265830 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65265830 65265830 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 48 0 0.00 41 9 18.00 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65270091 65270091 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 25 0 0.00 34 7 17.07 MAMDC4 0 genome.wustl.edu 37 9 139750716 139750716 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 139750716 139750716 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.1728 p.L576 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 - - 60 0 0.00 59 8 11.94 MAP1A 0 genome.wustl.edu 37 15 43821402 43821402 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 43821402 43821402 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.7731 p.V2577 0.980 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 41 0 0.00 24 11 31.43 MAP3K4 0 genome.wustl.edu 37 6 161469775 161469776 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 161469775 161469776 - A INS MAP3K4 ENST00000392142 human ensembl 74_37 +1 known frame_shift_ins c.471_472 p.N159fs 1.000:1.000 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 MAP3K4 HGNC ENSG00000085511 tier1 93 0 0.00 74 15 16.85 MAP4K1 0 genome.wustl.edu 37 19 39078437 39078437 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 39078437 39078437 C T SNP MAP4K1 ENST00000396857 human ensembl 74_37 -1 known missense c.2417 p.R806H 0.072 smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 tier1 - - 38 0 0.00 37 8 17.78 MAPK4 0 genome.wustl.edu 37 18 48190851 48190851 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 48190851 48190851 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.523 p.V175I 0.996 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 tier1 - - 78 0 0.00 83 13 13.54 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 tier1 30 0 0.00 38 6 13.64 MARK3 0 genome.wustl.edu 37 14 103958236 103958236 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 103958236 103958236 G A SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.1709 p.R570Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 55 0 0.00 51 13 20.31 MASTL 0 genome.wustl.edu 37 10 27458958 27458958 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 27458958 27458958 C T SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1070 p.T357M 0.002 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 tier1 - - 92 0 0.00 72 18 20.00 MATK 0 genome.wustl.edu 37 19 3778367 3778367 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 3778367 3778367 G - DEL MATK ENST00000395045 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.876 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 62 0 0.00 69 9 11.54 MAU2 0 genome.wustl.edu 37 19 19446963 19446963 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 19446963 19446963 A G SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known silent c.327 p.A109 0.956 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 tier1 - - 96 0 0.00 84 16 16.00 MB21D2 0 genome.wustl.edu 37 3 192516458 192516458 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 192516458 192516458 C T SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.1193 p.R398Q 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 tier1 - - 46 0 0.00 34 7 17.07 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 tier1 14 0 0.00 15 5 25.00 MC5R 0 genome.wustl.edu 37 18 13826089 13826089 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 13826089 13826089 G A SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.325 p.A109T 0.260 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 tier1 - - 86 0 0.00 59 31 34.44 MDH1B 0 genome.wustl.edu 37 2 207619790 207619790 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 207619790 207619790 C A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.853 p.G285W 0.358 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 89 0 0.00 62 25 28.74 MED12 0 genome.wustl.edu 37 X 70341449 70341449 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 70341449 70341449 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.884 p.R295H 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 - - 30 0 0.00 39 7 15.22 MED14 0 genome.wustl.edu 37 X 40569344 40569344 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 40569344 40569344 C T SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.1060 p.V354I 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 37 0 0.00 22 5 18.52 MEGF8 0 genome.wustl.edu 37 19 42872754 42872755 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 42872754 42872755 - G INS MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_ins c.6421_6422 p.Q2144fs 0.967:0.973 smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 12 0 0.00 4 3 42.86 MEGF8 0 genome.wustl.edu 37 19 42856470 42856470 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 42856470 42856470 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.3212 p.R1071H 1.000 pfam_Plexin_repeat,smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 13 0 0.00 8 4 33.33 MEOX2 0 genome.wustl.edu 37 7 15725988 15725988 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 15725988 15725988 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.40 p.A14T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 17 0 0.00 9 4 30.77 MEST 0 genome.wustl.edu 37 7 130138034 130138034 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 130138034 130138034 C T SNP MEST ENST00000223215 human ensembl 74_37 +1 known missense c.394 p.R132W 1.000 pfam_AB_hydrolase_1,pfam_DUF1057 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 tier1 - - 96 0 0.00 108 13 10.74 MFN1 0 genome.wustl.edu 37 3 179104374 179104374 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 179104374 179104374 A G SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.1969 p.I657V 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 100 0 0.00 83 17 17.00 MGAM 0 genome.wustl.edu 37 7 141631635 141631635 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 141631635 141631635 A - DEL MGAM ENST00000497554 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MGAM HGNC ENSG00000257335 tier1 47 0 0.00 47 8 14.55 MICALL2 0 genome.wustl.edu 37 7 1479689 1479689 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 1479689 1479689 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.1838 p.A613V 0.507 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 tier1 - - 25 0 0.00 27 17 37.78 MICU2 0 genome.wustl.edu 37 13 22095397 22095397 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 22095397 22095397 C T SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.584 p.R195K 0.999 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 tier1 - - 82 0 0.00 57 9 13.64 MICU3 0 genome.wustl.edu 37 8 16921748 16921748 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 16921748 16921748 T C SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known splice_site c.535+2 e2+2 1.000 - - - no_errors MICU3 HGNC ENSG00000155970 tier1 - - 66 0 0.00 79 14 15.05 MIER3 0 genome.wustl.edu 37 5 56231565 56231565 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 56231565 56231565 A G SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known silent c.450 p.C150 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 tier1 - - 51 0 0.00 59 11 15.71 MIPEP 0 genome.wustl.edu 37 13 24443524 24443524 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 24443524 24443524 C T SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.850 p.E284K 0.987 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 tier1 - - 81 0 0.00 77 21 21.21 MIR1303 0 genome.wustl.edu 37 5 154065370 154065372 + RNA DEL TTT TTT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 154065370 154065372 TTT - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002:0.000 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 40 0 0.00 26 9 25.71 MITD1 0 genome.wustl.edu 37 2 99790399 99790399 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 99790399 99790399 A G SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known missense c.232 p.Y78H 0.998 pfam_MIT,smart_MIT pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 tier1 - - 60 0 0.00 51 7 12.07 MKS1 0 genome.wustl.edu 37 17 56291726 56291726 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 56291726 56291726 G A SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.538 p.R180C 0.961 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 tier1 - - 49 0 0.00 54 9 14.29 MLH1 0 genome.wustl.edu 37 3 37045891 37045891 + Splice_Site SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 37045891 37045891 G A SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known splice_site c.307-1 e4-1 1.000 - - - no_errors MLH1 HGNC ENSG00000076242 tier1 - - 76 0 0.00 46 12 20.69 MMP3 0 genome.wustl.edu 37 11 102713491 102713491 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 102713491 102713491 G A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.262 p.R88C 0.300 pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 67 0 0.00 53 9 14.52 MOV10L1 0 genome.wustl.edu 37 22 50599138 50599138 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 50599138 50599138 T C SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.3346 p.F1116L 0.856 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 91 0 0.00 63 17 21.25 MPL 0 genome.wustl.edu 37 1 43805673 43805673 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 43805673 43805673 C A SNP MPL ENST00000372470 human ensembl 74_37 +1 known silent c.729 p.I243 0.999 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 tier1 - - 44 0 0.00 38 8 17.39 MPP3 0 genome.wustl.edu 37 17 41888507 41888507 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 41888507 41888507 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.1322 p.A441V 0.701 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 tier1 - - 97 0 0.00 91 24 20.87 MRAP 0 genome.wustl.edu 37 21 33684272 33684272 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 33684272 33684272 C - DEL MRAP ENST00000303645 human ensembl 74_37 +1 known frame_shift_del c.484 p.P163fs 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 tier1 73 0 0.00 37 6 13.95 MRGPRX3 0 genome.wustl.edu 37 11 18158922 18158922 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 18158922 18158922 G T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.173 p.R58M 0.655 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 108 0 0.00 131 21 13.82 MROH2B 0 genome.wustl.edu 37 5 41004528 41004528 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 41004528 41004528 T - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4114 p.I1372fs 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 87 0 0.00 78 15 16.13 MROH2B 0 genome.wustl.edu 37 5 41058189 41058190 + Frame_Shift_Del DEL TT TT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 41058189 41058190 TT - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.732_731 p.K244fs 0.945:0.949 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 43 0 0.00 32 8 20.00 MRPS27 0 genome.wustl.edu 37 5 71524106 71524106 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 71524106 71524106 G A SNP MRPS27 ENST00000513900 human ensembl 74_37 -1 known silent c.723 p.G241 0.999 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 tier1 - - 80 0 0.00 59 14 19.18 MRVI1 0 genome.wustl.edu 37 11 10631375 10631375 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 10631375 10631375 C A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.1444 p.A482S 0.847 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 48 0 0.00 64 11 14.67 MSANTD4 0 genome.wustl.edu 37 11 105881548 105881548 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 105881548 105881548 A 0 DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.97 p.S33fs 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 106 0 0.00 148 16 9.76 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 122 0 0.00 82 15 15.46 MSH6 0 genome.wustl.edu 37 2 48032113 48032113 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 48032113 48032113 C T SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.3503 p.T1168I 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 62 0 0.00 59 17 22.37 MSTO1 0 genome.wustl.edu 37 1 155717584 155717584 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 155717584 155717584 G A SNP MSTO1 ENST00000452804 human ensembl 74_37 +1 known missense c.791 p.G264D 1.000 superfamily_Tubulin_FtsZ_GTPase pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 tier1 - - 35 0 0.00 32 9 21.95 MTAP 0 genome.wustl.edu 37 9 21861981 21861981 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 21861981 21861981 G A SNP MTAP ENST00000380172 human ensembl 74_37 +1 known missense c.820 p.A274T 1.000 NULL pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 tier1 - - 76 0 0.00 86 43 33.33 MTHFSD 0 genome.wustl.edu 37 16 86585858 86585858 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 86585858 86585858 G A SNP MTHFSD ENST00000381214 human ensembl 74_37 -1 known missense c.164 p.A55V 0.929 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 tier1 - - 20 0 0.00 15 10 40.00 MTR 0 genome.wustl.edu 37 1 237054561 237054561 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 237054561 237054561 C A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3136 p.L1046M 0.116 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 166 0 0.00 118 30 20.27 MTUS2 0 genome.wustl.edu 37 13 29600665 29600665 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 29600665 29600665 C A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.1860 p.S620 0.492 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 30 0 0.00 27 15 35.71 MTX3 0 genome.wustl.edu 37 5 79279513 79279513 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 79279513 79279513 C T SNP MTX3 ENST00000512528 human ensembl 74_37 -1 known silent c.933 p.S311 0.989 NULL pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,pirsf_Metaxin - no_errors MTX3 HGNC ENSG00000177034 tier1 - - 31 0 0.00 58 12 17.14 MUC15 0 genome.wustl.edu 37 11 26587008 26587008 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 26587008 26587008 G T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.479 p.P160H 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 121 0 0.00 177 21 10.61 MUC2 0 genome.wustl.edu 37 11 1096349 1096349 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 1096349 1096349 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.6374 p.P2125L 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 54 0 0.00 63 10 13.70 MUC5B 0 genome.wustl.edu 37 11 1247973 1247973 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 1247973 1247973 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.328 p.A110T 0.135 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 29 0 0.00 43 12 21.82 MUC5B 0 genome.wustl.edu 37 11 1266535 1266535 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 1266535 1266535 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.8434 p.L2812M 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 64 0 0.00 66 11 14.29 MUC6 0 genome.wustl.edu 37 11 1018234 1018234 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 1018234 1018234 T C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.4567 p.T1523A 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 315 0 0.00 435 50 10.25 MUC6 0 genome.wustl.edu 37 11 1029229 1029230 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 1029229 1029230 - G INS MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_ins c.1274_1273 p.Q425fs 1.000:1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 24 0 0.00 25 5 16.67 MXRA5 0 genome.wustl.edu 37 X 3241681 3241681 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 3241681 3241681 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.2045 p.R682H 0.675 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 112 0 0.00 83 37 30.58 MYB 0 genome.wustl.edu 37 6 135516946 135516946 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 135516946 135516946 A G SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.1009 p.R337G 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 - - 61 0 0.00 62 10 13.89 MYBL1 0 genome.wustl.edu 37 8 67488604 67488604 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 67488604 67488604 C - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1108 p.V370fs 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 MYBL1 HGNC ENSG00000185697 tier1 133 0 0.00 113 34 23.13 MYH13 0 genome.wustl.edu 37 17 10209932 10209932 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 10209932 10209932 A G SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.5310 p.A1770 0.019 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 78 0 0.00 93 17 15.45 MYH2 0 genome.wustl.edu 37 17 10431117 10431117 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 10431117 10431117 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.3819 p.Q1273 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 111 0 0.00 95 11 10.38 MYH7 0 genome.wustl.edu 37 14 23896982 23896982 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 23896982 23896982 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1700 p.R567H 0.297 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 102 0 0.00 78 17 17.89 MYH8 0 genome.wustl.edu 37 17 10317533 10317533 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 10317533 10317533 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.984 p.D328 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 268 0 0.00 263 50 15.97 MYLK 0 genome.wustl.edu 37 3 123419658 123419658 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 123419658 123419658 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2657 p.A886V 0.141 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 rs140989388 - 55 0 0.00 42 8 15.69 MYOD1 0 genome.wustl.edu 37 11 17741491 17741491 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 17741491 17741491 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.162 p.G54 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 32 0 0.00 43 3 6.52 MYT1L 0 genome.wustl.edu 37 2 1842995 1842995 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 1842995 1842995 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.3006 p.T1002 0.993 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 53 0 0.00 43 4 8.51 NAB2 0 genome.wustl.edu 37 12 57485292 57485292 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 57485292 57485292 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known silent c.468 p.R156 0.613 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 tier1 - - 69 0 0.00 57 12 17.39 NALCN 0 genome.wustl.edu 37 13 101997642 101997642 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 101997642 101997642 C A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.774 p.L258 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 92 0 0.00 116 25 17.73 NAT1 0 genome.wustl.edu 37 8 18080131 18080131 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 18080131 18080131 T G SNP NAT1 ENST00000545197 human ensembl 74_37 +1 known missense c.761 p.F254C 1.000 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT1 HGNC ENSG00000171428 tier1 - - 95 0 0.00 102 47 31.54 NAV2 0 genome.wustl.edu 37 11 19954970 19954970 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 19954970 19954970 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1249 p.A417T 0.459 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 182 0 0.00 170 34 16.67 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 34 0 0.00 23 7 23.33 NBR2 0 genome.wustl.edu 37 17 41290805 41290805 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 41290805 41290805 C T SNP NBR2 ENST00000356906 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors NBR2 HGNC ENSG00000198496 tier1 - - 45 0 0.00 42 6 12.50 NCAM1-AS1 0 genome.wustl.edu 37 11 113140866 113140866 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 113140866 113140866 G A SNP NCAM1-AS1 ENST00000526229 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NCAM1-AS1 HGNC ENSG00000227487 tier1 - - 64 0 0.00 71 16 18.39 NCAPD3 0 genome.wustl.edu 37 11 134055396 134055396 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 134055396 134055396 T A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2071 p.I691F 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 78 0 0.00 97 15 13.39 NCOA7 0 genome.wustl.edu 37 6 126211127 126211127 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 126211127 126211127 G T SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.1927 p.D643Y 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 tier1 - - 83 0 0.00 68 12 15.00 NCOR2 0 genome.wustl.edu 37 12 124856755 124856755 + Missense_Mutation SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 124856755 124856755 G C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2620 p.P874A 0.005 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 73 0 0.00 65 12 15.58 NELL2 0 genome.wustl.edu 37 12 44926491 44926491 + Nonsense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 44926491 44926491 G T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known nonsense c.1827 p.C609* 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 97 0 0.00 82 26 24.07 NFASC 0 genome.wustl.edu 37 1 204948556 204948556 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 204948556 204948556 C A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2045 p.P682H 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 138 0 0.00 99 20 16.81 NFIB 0 genome.wustl.edu 37 9 14120446 14120446 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 14120446 14120446 G A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1238 p.T413I 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 102 0 0.00 159 18 10.17 NKAPL 0 genome.wustl.edu 37 6 28227519 28227520 + Frame_Shift_Del DEL GA GA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 28227519 28227520 GA - DEL NKAPL ENST00000343684 human ensembl 74_37 +1 known frame_shift_del c.370_371 p.R127fs 0.996:1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 127 0 0.00 120 18 13.04 NKD1 0 genome.wustl.edu 37 16 50642241 50642241 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 50642241 50642241 G A SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.229 p.E77K 0.999 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 tier1 - - 211 0 0.00 158 35 18.13 NKRF 0 genome.wustl.edu 37 X 118723958 118723958 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 118723958 118723958 C T SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.1475 p.R492H 1.000 smart_dsRNA-bd_dom pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 tier1 - - 181 0 0.00 157 37 19.07 NKRF 0 genome.wustl.edu 37 X 118724650 118724650 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 118724650 118724650 G A SNP NKRF ENST00000542113 human ensembl 74_37 -1 known silent c.783 p.C261 1.000 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 tier1 - - 171 0 0.00 163 32 16.33 NLGN3 0 genome.wustl.edu 37 X 70390029 70390029 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 70390029 70390029 G A SNP NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NLGN3 HGNC ENSG00000196338 tier1 rs201706343 - 17 0 0.00 8 5 38.46 NLRC5 0 genome.wustl.edu 37 16 57059835 57059835 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 57059835 57059835 T C SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.980 p.L327P 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 85 0 0.00 80 13 13.98 NLRP13 0 genome.wustl.edu 37 19 56443571 56443571 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 56443571 56443571 A G SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.107 p.L36S 0.002 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP13 HGNC ENSG00000173572 tier1 - - 100 0 0.00 89 24 21.05 NLRP7 0 genome.wustl.edu 37 19 55451653 55451653 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 55451653 55451653 G T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.618 p.G206 0.001 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP7 HGNC ENSG00000167634 tier1 - - 152 0 0.00 143 28 16.37 NLRX1 0 genome.wustl.edu 37 11 119045476 119045476 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 119045476 119045476 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known silent c.1164 p.T388 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 rs200299072 - 63 0 0.00 46 8 14.81 NOC3L 0 genome.wustl.edu 37 10 96117098 96117098 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 96117098 96117098 A - DEL NOC3L ENST00000463649 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC ENSG00000173145 tier1 58 0 0.00 40 8 16.67 NOL11 0 genome.wustl.edu 37 17 65722733 65722733 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 65722733 65722733 A G SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known silent c.822 p.A274 0.930 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 tier1 - - 43 0 0.00 44 12 21.43 NOL11 0 genome.wustl.edu 37 17 65732026 65732026 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 65732026 65732026 A G SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known missense c.941 p.Y314C 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 tier1 - - 51 0 0.00 53 7 11.67 NOS1 0 genome.wustl.edu 37 12 117718591 117718591 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 117718591 117718591 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1463 p.A488V 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 47 0 0.00 55 9 14.06 NOS3 0 genome.wustl.edu 37 7 150696369 150696369 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 150696369 150696369 G A SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.1048 p.A350T 0.944 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 195 0 0.00 155 74 32.31 NOTCH4 0 genome.wustl.edu 37 6 32164111 32164111 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 32164111 32164111 T C SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5288 p.Q1763R 1.000 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 182 0 0.00 144 35 19.55 NPHP1 0 genome.wustl.edu 37 2 110922179 110922179 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 110922179 110922179 G T SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.857 p.T286N 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 246 0 0.00 161 43 21.08 NPHP4 0 genome.wustl.edu 37 1 5947387 5947387 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 5947387 5947387 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.2444 p.S815L 0.855 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 rs202165848 - 42 0 0.00 26 12 31.58 NPR2 0 genome.wustl.edu 37 9 35793920 35793920 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 35793920 35793920 G T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.693 p.E231D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 - - 83 0 0.00 94 11 10.48 NR0B1 0 genome.wustl.edu 37 X 30326325 30326325 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 30326325 30326325 G A SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.1156 p.L386F 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 91 0 0.00 95 19 16.38 NR4A2 0 genome.wustl.edu 37 2 157183254 157183254 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 157183254 157183254 A G SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.1370 p.L457P 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 tier1 - - 248 0 0.00 236 47 16.61 NRDE2 0 genome.wustl.edu 37 14 90755098 90755098 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 90755098 90755098 G A SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.2621 p.A874V 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 52 0 0.00 36 10 21.74 NRF1 0 genome.wustl.edu 37 7 129330354 129330354 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 129330354 129330354 G A SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.574 p.G192R 1.000 pfam_Nrf1_NLS/DNA-bd_dimer pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 tier1 - - 75 0 0.00 71 20 21.98 NRK 0 genome.wustl.edu 37 X 105142690 105142690 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 105142690 105142690 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.694 p.R232C 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_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 22 0 0.00 23 4 14.81 NRP2 0 genome.wustl.edu 37 2 206628602 206628602 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 206628602 206628602 A G SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.2249 p.Q750R 1.000 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 82 0 0.00 72 21 22.58 NSUN7 0 genome.wustl.edu 37 4 40753000 40753000 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 40753000 40753000 C A SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.290 p.A97D 1.000 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 tier1 - - 93 0 0.00 60 26 30.23 NT5C1A 0 genome.wustl.edu 37 1 40125091 40125091 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 40125091 40125091 C T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.809 p.R270Q 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 tier1 - - 68 0 0.00 63 12 16.00 NTMT1 0 genome.wustl.edu 37 9 132394984 132394984 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 132394984 132394984 T C SNP NTMT1 ENST00000372480 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 tier1 - - 51 0 0.00 49 12 19.67 NUB1 0 genome.wustl.edu 37 7 151046320 151046320 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 151046320 151046320 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.351 p.D120fs 0.301 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 tier1 64 0 0.00 64 11 14.67 NUMA1 0 genome.wustl.edu 37 11 71728760 71728762 + In_Frame_Del DEL CTT CTT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 71728760 71728762 CTT - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known in_frame_del c.1092_1090 p.K364in_frame_del 0.987:0.980:0.990 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 62 0 0.00 62 23 27.06 NUP188 0 genome.wustl.edu 37 9 131762062 131762062 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 131762062 131762062 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.3821 p.R1274Q 0.989 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 rs141848819 - 58 0 0.00 34 17 33.33 NUP214 0 genome.wustl.edu 37 9 134049509 134049509 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 134049509 134049509 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known silent c.2964 p.T988 0.794 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 118 0 0.00 126 21 14.19 NUP214 0 genome.wustl.edu 37 9 134049567 134049567 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 134049567 134049567 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.3022 p.E1008K 0.975 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 96 0 0.00 134 23 14.65 NUPL1 0 genome.wustl.edu 37 13 25895204 25895204 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 25895204 25895204 T C SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known silent c.924 p.I308 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 91 0 0.00 73 20 21.51 NYX 0 genome.wustl.edu 37 X 41333636 41333636 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 41333636 41333636 C T SNP NYX ENST00000342595 human ensembl 74_37 +1 known silent c.930 p.N310 0.933 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 tier1 - - 77 0 0.00 89 12 11.76 OBSCN 0 genome.wustl.edu 37 1 228404361 228404361 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 228404361 228404361 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2335 p.V779I 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 8 0 0.00 12 5 29.41 OCA2 0 genome.wustl.edu 37 15 28326980 28326980 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 28326980 28326980 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.41 p.A14V 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 27 0 0.00 23 5 17.86 OCRL 0 genome.wustl.edu 37 X 128724382 128724382 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 128724382 128724382 C T SNP OCRL ENST00000463271 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OCRL HGNC ENSG00000122126 tier1 - - 26 0 0.00 16 9 36.00 OGDHL 0 genome.wustl.edu 37 10 50944167 50944167 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 50944167 50944167 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.2811 p.A937 0.002 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 32 0 0.00 22 5 17.86 ONECUT2 0 genome.wustl.edu 37 18 55103278 55103278 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 55103278 55103278 G T SNP ONECUT2 ENST00000491143 human ensembl 74_37 +1 known missense c.330 p.M110I 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 tier1 - - 27 0 0.00 26 4 13.33 OR10C1 0 genome.wustl.edu 37 6 29407796 29407796 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 29407796 29407796 A C SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.4 p.S2R 0.050 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 tier1 - - 55 0 0.00 50 5 9.09 OR10T2 0 genome.wustl.edu 37 1 158368798 158368798 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 158368798 158368798 A G SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.459 p.G153 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 tier1 - - 117 0 0.00 91 18 16.51 OR11H6 0 genome.wustl.edu 37 14 20692079 20692079 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 20692079 20692079 A G SNP OR11H6 ENST00000315519 human ensembl 74_37 +1 known missense c.211 p.R71G 0.424 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 OR11H6 HGNC ENSG00000176219 tier1 - - 83 0 0.00 71 12 14.46 OR13C9 0 genome.wustl.edu 37 9 107380334 107380334 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 107380334 107380334 A - DEL OR13C9 ENST00000259362 human ensembl 74_37 -1 known frame_shift_del c.152 p.L51fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 tier1 129 0 0.00 125 19 13.19 OR14I1 0 genome.wustl.edu 37 1 248845140 248845140 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 248845140 248845140 C T SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.466 p.V156I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 tier1 - - 31 0 0.00 35 9 20.45 OR1N2 0 genome.wustl.edu 37 9 125316262 125316262 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 125316262 125316262 C A SNP OR1N2 ENST00000373688 human ensembl 74_37 +1 known missense c.814 p.L272I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N2 HGNC ENSG00000171501 tier1 - - 142 0 0.00 133 26 16.35 OR4A15 0 genome.wustl.edu 37 11 55136028 55136028 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 55136028 55136028 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.669 p.T223 0.077 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 141 0 0.00 119 15 11.19 OR4C13 0 genome.wustl.edu 37 11 49973999 49973999 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 49973999 49973999 G A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.25 p.E9K 0.904 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 tier1 - - 122 0 0.00 131 24 15.48 OR4E2 0 genome.wustl.edu 37 14 22133680 22133680 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 22133680 22133680 T C SNP OR4E2 ENST00000408935 human ensembl 74_37 +1 known silent c.384 p.T128 0.000 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 OR4E2 HGNC ENSG00000221977 tier1 - - 188 0 0.00 159 40 20.10 OR4K14 0 genome.wustl.edu 37 14 20483290 20483290 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 20483290 20483290 T C SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known silent c.63 p.R21 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 74 0 0.00 55 22 28.57 OR5M11 0 genome.wustl.edu 37 11 56310193 56310193 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 56310193 56310193 G T SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known missense c.541 p.P181T 1.000 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 OR5M11 HGNC ENSG00000255223 tier1 - - 43 0 0.00 39 8 17.02 OR5M3 0 genome.wustl.edu 37 11 56237177 56237177 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 56237177 56237177 A T SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.797 p.V266E 0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 - - 36 0 0.00 46 12 20.69 OR5P2 0 genome.wustl.edu 37 11 7818460 7818460 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 7818460 7818460 G A SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known silent c.30 p.T10 0.157 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 tier1 - - 41 0 0.00 45 16 26.23 OR8J1 0 genome.wustl.edu 37 11 56128007 56128007 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 56128007 56128007 T C SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known silent c.285 p.Y95 0.075 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 tier1 - - 129 0 0.00 192 25 11.52 OTC 0 genome.wustl.edu 37 X 38262995 38262995 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 38262995 38262995 T C SNP OTC ENST00000039007 human ensembl 74_37 +1 known splice_site c.663+2 e6+2 1.000 - - - no_errors OTC HGNC ENSG00000036473 tier1 rs72558427 - 72 0 0.00 69 32 31.37 OTOP2 0 genome.wustl.edu 37 17 72926709 72926709 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 72926709 72926709 A G SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.979 p.I327V 0.968 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 tier1 - - 61 0 0.00 44 11 20.00 OTUB2 0 genome.wustl.edu 37 14 94512106 94512106 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 94512106 94512106 G A SNP OTUB2 ENST00000203664 human ensembl 74_37 +1 known silent c.543 p.T181 0.449 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 tier1 - - 35 0 0.00 25 8 24.24 OXTR 0 genome.wustl.edu 37 3 8808962 8808962 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 8808962 8808962 C T SNP OXTR ENST00000316793 human ensembl 74_37 -1 known silent c.912 p.A304 0.973 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 tier1 - - 42 0 0.00 35 4 10.26 PABPC1 0 genome.wustl.edu 37 8 101719160 101719160 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 101719160 101719160 G A SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.1402 p.P468S 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 tier1 - - 98 0 0.00 104 8 7.14 PACSIN3 0 genome.wustl.edu 37 11 47204022 47204022 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 47204022 47204022 C T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known missense c.143 p.R48H 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 tier1 - - 100 0 0.00 94 23 19.49 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899757 112899757 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 112899757 112899757 A G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1933 p.K645E 0.718 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 98 0 0.00 85 20 19.05 PAN2 0 genome.wustl.edu 37 12 56716262 56716262 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 56716262 56716262 A G SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.2654 p.V885A 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 - - 65 0 0.00 74 13 14.94 PAPD7 0 genome.wustl.edu 37 5 6754888 6754888 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 6754888 6754888 A G SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1459 p.M487V 0.994 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 - - 47 0 0.00 33 4 10.81 PAQR6 0 genome.wustl.edu 37 1 156214975 156214975 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 156214975 156214975 G A SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known silent c.249 p.F83 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 tier1 rs148353324 - 83 0 0.00 58 12 17.14 PARD3 0 genome.wustl.edu 37 10 34666941 34666941 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 34666941 34666941 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.1493 p.A498V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 114 0 0.00 117 22 15.83 PARP8 0 genome.wustl.edu 37 5 49962828 49962829 + RNA DEL AG AG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 49962828 49962829 AG - DEL PARP8 ENST00000513414 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors PARP8 HGNC ENSG00000151883 tier1 18 0 0.00 17 4 19.05 PAX1 0 genome.wustl.edu 37 20 21687128 21687128 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 21687128 21687128 C - DEL PAX1 ENST00000398485 human ensembl 74_37 +1 known frame_shift_del c.339 p.L115fs 0.986 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 77 0 0.00 40 27 40.30 PAX1 0 genome.wustl.edu 37 20 21690007 21690007 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 21690007 21690007 C - DEL PAX1 ENST00000398485 human ensembl 74_37 +1 known frame_shift_del c.1207 p.A406fs 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 24 0 0.00 25 18 41.86 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 tier1 77 0 0.00 46 21 31.34 PC 0 genome.wustl.edu 37 11 66633713 66633713 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 66633713 66633713 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.1130 p.R377Q 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 tier1 - - 67 0 0.00 65 12 15.58 PCBD1 0 genome.wustl.edu 37 10 72645625 72645625 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 72645625 72645625 G T SNP PCBD1 ENST00000299299 human ensembl 74_37 -1 known missense c.65 p.A22D 0.997 pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase - no_errors PCBD1 HGNC ENSG00000166228 tier1 - - 31 0 0.00 51 7 12.07 PCDH11X 0 genome.wustl.edu 37 X 91134143 91134143 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 91134143 91134143 C A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.2904 p.L968 0.957 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 207 0 0.00 189 90 32.26 PCDH15 0 genome.wustl.edu 37 10 55700673 55700673 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 55700673 55700673 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3185 p.A1062V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 48 0 0.00 53 6 10.17 PCDH17 0 genome.wustl.edu 37 13 58299183 58299183 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 58299183 58299183 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3235 p.L1079M 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 94 0 0.00 97 19 16.38 PCDHA1 0 genome.wustl.edu 37 5 140167240 140167240 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140167240 140167240 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1365 p.F455 0.869 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 132 0 0.00 93 26 21.85 PCDHA12 0 genome.wustl.edu 37 5 140256763 140256763 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140256763 140256763 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1706 p.P569L 0.056 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 203 0 0.00 186 28 13.08 PCDHA12 0 genome.wustl.edu 37 5 140257029 140257029 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140257029 140257029 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1972 p.A658T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 80 0 0.00 83 17 17.00 PCDHA8 0 genome.wustl.edu 37 5 140222666 140222666 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140222666 140222666 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1760 p.A587V 0.802 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 70 0 0.00 29 30 50.85 PCDHB5 0 genome.wustl.edu 37 5 140516697 140516697 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140516697 140516697 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1681 p.L561 0.998 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 tier1 - - 89 0 0.00 103 22 17.60 PCDHB7 0 genome.wustl.edu 37 5 140554264 140554264 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140554264 140554264 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1848 p.G616 0.700 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 PCDHB7 HGNC ENSG00000113212 tier1 - - 217 0 0.00 212 19 8.23 PCDHGC3 0 genome.wustl.edu 37 5 140856979 140856979 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 140856979 140856979 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.1296 p.A432 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 - - 87 0 0.00 71 15 17.44 PCLO 0 genome.wustl.edu 37 7 82581699 82581699 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 82581699 82581699 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8570 p.L2857P 0.392 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 50 0 0.00 57 12 17.39 PCLO 0 genome.wustl.edu 37 7 82785058 82785059 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 82785058 82785059 - T INS PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_ins c.899_898 p.S300fs 0.136:0.095 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 29 0 0.00 37 15 28.85 PCNT 0 genome.wustl.edu 37 21 47848388 47848388 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 47848388 47848388 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.7574 p.R2525H 0.910 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 33 0 0.00 29 8 21.62 PCOLCE2 0 genome.wustl.edu 37 3 142567256 142567256 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 142567256 142567256 T C SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.251 p.N84S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 tier1 - - 134 0 0.00 114 23 16.79 PCSK4 0 genome.wustl.edu 37 19 1481800 1481800 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 1481800 1481800 G A SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known silent c.2226 p.A742 0.002 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 tier1 - - 11 0 0.00 15 10 40.00 PCSK5 0 genome.wustl.edu 37 9 78804578 78804578 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 78804578 78804578 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.2542 p.P848S 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 44 0 0.00 54 7 11.48 PDE4B 0 genome.wustl.edu 37 1 66831407 66831407 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 66831407 66831407 G A SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.1342 p.V448I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 59 0 0.00 62 17 21.52 PDE4C 0 genome.wustl.edu 37 19 18321782 18321782 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 18321782 18321782 C T SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.2096 p.G699D 0.001 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 95 0 0.00 77 18 18.95 PDE6A 0 genome.wustl.edu 37 5 149324082 149324082 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 149324082 149324082 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.155 p.P52L 0.158 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 66 0 0.00 79 11 12.22 PDE9A 0 genome.wustl.edu 37 21 44195538 44195541 + RNA DEL AAAA AAAA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 44195538 44195541 AAAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 14 0 0.00 9 3 25.00 PDLIM1 0 genome.wustl.edu 37 10 96997738 96997738 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 96997738 96997738 G A SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.934 p.R312W 1.000 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 tier1 - - 39 0 0.00 53 8 13.11 PDLIM1 0 genome.wustl.edu 37 10 97031534 97031534 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 97031534 97031534 G T SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.104 p.P35H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 tier1 - - 86 0 0.00 86 20 18.87 PDS5B 0 genome.wustl.edu 37 13 33258092 33258092 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 33258092 33258092 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.1135 p.K380fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 186 0 0.00 157 42 21.11 PDZD2 0 genome.wustl.edu 37 5 32087445 32087445 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 32087445 32087445 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.3891 p.A1297 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 59 0 0.00 61 20 24.69 PEX16 0 genome.wustl.edu 37 11 45935921 45935921 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 45935921 45935921 C A SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.640 p.G214W 1.000 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 tier1 - - 65 0 0.00 79 15 15.96 PHEX 0 genome.wustl.edu 37 X 22095740 22095740 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 22095740 22095740 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.583 p.R195C 0.997 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 336 0 0.00 274 104 27.44 PHF10 0 genome.wustl.edu 37 6 170104148 170104148 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 170104148 170104148 G - DEL PHF10 ENST00000339209 human ensembl 74_37 -1 known frame_shift_del c.1448 p.P483fs 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 tier1 96 0 0.00 80 10 11.11 PHF11 0 genome.wustl.edu 37 13 50080797 50080798 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 50080797 50080798 - A INS PHF11 ENST00000378319 human ensembl 74_37 +1 known frame_shift_ins c.121_122 p.R43fs 0.988:0.987 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 tier1 78 0 0.00 94 19 16.81 PHF21B 0 genome.wustl.edu 37 22 45312409 45312409 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 45312409 45312409 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.315 p.S105 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 rs116581756 - 72 0 0.00 65 10 13.33 PHF6 0 genome.wustl.edu 37 X 133549153 133549153 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 133549153 133549153 C T SNP PHF6 ENST00000370800 human ensembl 74_37 +1 known silent c.840 p.V280 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors PHF6 HGNC ENSG00000156531 tier1 - - 132 0 0.00 153 24 13.56 PHLDB3 0 genome.wustl.edu 37 19 44006271 44006271 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 44006271 44006271 C - DEL PHLDB3 ENST00000292140 human ensembl 74_37 -1 known frame_shift_del c.378 p.K127fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 tier1 8 0 0.00 4 2 33.33 PIK3C2G 0 genome.wustl.edu 37 12 18719951 18719951 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 18719951 18719951 A G SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.3971 p.Y1324C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 79 0 0.00 63 19 23.17 PIK3C3 0 genome.wustl.edu 37 18 39613805 39613805 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 39613805 39613805 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1723 p.A575T 1.000 superfamily_Kinase-like_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 tier1 - - 97 0 0.00 116 18 13.43 PIK3R1 0 genome.wustl.edu 37 5 67589609 67589610 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 67589609 67589610 - A INS PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_ins c.1372_1373 p.S460fs 1.000:1.000 superfamily_Guanylate-bd_C pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 tier1 88 0 0.00 91 15 14.15 PIWIL2 0 genome.wustl.edu 37 8 22212924 22212924 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 22212924 22212924 C A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2828 p.P943H 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi 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 - - 79 0 0.00 84 11 11.58 PKHD1 0 genome.wustl.edu 37 6 51618062 51618062 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 51618062 51618062 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8887 p.V2963I 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 100 0 0.00 95 15 13.64 PKMYT1 0 genome.wustl.edu 37 16 3026700 3026700 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 3026700 3026700 G A SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.343 p.R115C 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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom 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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 tier1 - - 26 0 0.00 36 6 14.29 PKN2 0 genome.wustl.edu 37 1 89270586 89270586 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 89270586 89270586 A T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1483 p.I495F 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 tier1 - - 157 0 0.00 168 15 8.20 PKN3 0 genome.wustl.edu 37 9 131476912 131476913 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 131476912 131476913 - C INS PKN3 ENST00000291906 human ensembl 74_37 +1 known frame_shift_ins c.1553_1554 p.Q520fs 1.000:0.991 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 tier1 35 0 0.00 36 7 16.28 PLA2G12B 0 genome.wustl.edu 37 10 74714407 74714407 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 74714407 74714407 T C SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known missense c.37 p.S13G 0.938 NULL pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 tier1 - - 85 0 0.00 68 12 14.46 PLA2G16 0 genome.wustl.edu 37 11 63365630 63365630 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 63365630 63365630 C T SNP PLA2G16 ENST00000323646 human ensembl 74_37 -1 known silent c.21 p.E7 0.997 NULL pfam_LRAT-like_dom - no_errors PLA2G16 HGNC ENSG00000176485 tier1 - - 50 0 0.00 39 4 9.30 PLAA 0 genome.wustl.edu 37 9 26926404 26926404 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 26926404 26926404 A - DEL PLAA ENST00000397292 human ensembl 74_37 -1 known frame_shift_del c.720 p.P241fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 tier1 127 0 0.00 144 21 12.73 PLEC 0 genome.wustl.edu 37 8 144995199 144995199 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 144995199 144995199 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.9201 p.S3067 0.001 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 100 0 0.00 135 25 15.62 PLEKHA2 0 genome.wustl.edu 37 8 38775526 38775526 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 38775526 38775526 C T SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known missense c.79 p.R27W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 tier1 - - 39 0 0.00 40 9 18.37 PLEKHA5 0 genome.wustl.edu 37 12 19459599 19459599 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 19459599 19459599 C T SNP PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 77 0 0.00 63 7 10.00 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 29 0 0.00 46 10 17.86 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 54 0 0.00 49 9 15.52 PLXNA4 0 genome.wustl.edu 37 7 131982954 131982954 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 131982954 131982954 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1399 p.A467T 0.991 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 92 0 0.00 43 24 35.29 PLXNB1 0 genome.wustl.edu 37 3 48456440 48456440 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 48456440 48456440 G T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.3977 p.P1326Q 0.615 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 104 0 0.00 64 16 20.00 PLXNC1 0 genome.wustl.edu 37 12 94653233 94653233 + RNA SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 94653233 94653233 T C SNP PLXNC1 ENST00000551495 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PLXNC1 HGNC ENSG00000136040 tier1 - - 20 0 0.00 27 10 27.03 PNLIPRP3 0 genome.wustl.edu 37 10 118215240 118215240 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 118215240 118215240 T A SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.463 p.F155I 0.005 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase 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 - - 47 0 0.00 34 9 20.93 POLE 0 genome.wustl.edu 37 12 133241032 133241032 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 133241032 133241032 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2485 p.M829V 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B 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 - - 63 0 0.00 66 8 10.81 POLE 0 genome.wustl.edu 37 12 133256109 133256109 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 133256109 133256109 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.552 p.S184 0.874 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom 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 - - 123 0 0.00 95 42 30.66 POM121 0 genome.wustl.edu 37 7 72400635 72400635 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 72400635 72400635 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known nonsense c.1261 p.R421* 0.018 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 - - 229 0 0.00 264 23 8.01 POMK 0 genome.wustl.edu 37 8 42958729 42958729 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 42958729 42958729 C - DEL POMK ENST00000331373 human ensembl 74_37 +1 known frame_shift_del c.38 p.R15fs 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors POMK HGNC ENSG00000185900 tier1 90 0 0.00 92 25 21.37 POR 0 genome.wustl.edu 37 7 75609806 75609806 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 75609806 75609806 G A SNP POR ENST00000545601 human ensembl 74_37 +1 known missense c.65 p.R22H 0.996 NULL pfam_FAD-binding_1,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors POR HGNC ENSG00000127948 tier1 - - 124 0 0.00 117 20 14.60 POTEF 0 genome.wustl.edu 37 2 130832862 130832863 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 130832862 130832863 0 G INS POTEF ENST00000357462 human ensembl 74_37 -1 known frame_shift_ins c.2183_2182 p.R728fs 1.000:1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 53 0 0.00 49 8 14.04 POU6F2 0 genome.wustl.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 39379288 39379290 CAG - DEL POU6F2 ENST00000403058 human ensembl 74_37 +1 known in_frame_del c.559_561 p.Q190in_frame_del 0.172:0.153:0.157 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 23 0 0.00 27 3 10.00 PPM1A 0 genome.wustl.edu 37 14 60749519 60749519 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 60749519 60749519 G A SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known missense c.317 p.R106H 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1A HGNC ENSG00000100614 tier1 - - 365 0 0.00 267 59 18.10 PPP1R8 0 genome.wustl.edu 37 1 28165314 28165314 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 28165314 28165314 T C SNP PPP1R8 ENST00000311772 human ensembl 74_37 +1 known silent c.222 p.L74 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 tier1 - - 77 0 0.00 93 19 16.96 PPP3CB 0 genome.wustl.edu 37 10 75227285 75227286 + RNA INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 75227285 75227286 - T INS PPP3CB ENST00000495897 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors PPP3CB HGNC ENSG00000107758 tier1 18 0 0.00 11 2 15.38 PRAM1 0 genome.wustl.edu 37 19 8564152 8564152 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 8564152 8564152 G - DEL PRAM1 ENST00000423345 human ensembl 74_37 -1 known frame_shift_del c.540 p.S181fs 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 16 0 0.00 23 4 14.81 PRF1 0 genome.wustl.edu 37 10 72358774 72358774 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 72358774 72358774 C T SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.703 p.A235T 0.030 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 - - 37 0 0.00 39 10 20.41 PRKAG1 0 genome.wustl.edu 37 12 49399108 49399108 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 49399108 49399108 C T SNP PRKAG1 ENST00000548065 human ensembl 74_37 -1 known missense c.290 p.R97H 1.000 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG1 HGNC ENSG00000181929 tier1 - - 119 0 0.00 90 38 29.46 PRPF3 0 genome.wustl.edu 37 1 150316964 150316964 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 150316964 150316964 C T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known silent c.1581 p.V527 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 89 0 0.00 96 18 15.79 PRPF38B 0 genome.wustl.edu 37 1 109235299 109235301 + In_Frame_Del DEL GCG GCG - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 109235299 109235301 GCG - DEL PRPF38B ENST00000370025 human ensembl 74_37 +1 known in_frame_del c.86_88 p.G33in_frame_del 0.397:0.407:0.966 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 tier1 28 0 0.00 38 8 17.39 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 tier1 93 0 0.00 98 15 13.27 PRR15 0 genome.wustl.edu 37 7 29606031 29606032 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 29606031 29606032 - G INS PRR15 ENST00000319694 human ensembl 74_37 +1 known frame_shift_ins c.86_87 p.V31fs 0.000:0.001 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 tier1 20 0 0.00 24 4 14.29 PSEN1 0 genome.wustl.edu 37 14 73637683 73637683 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 73637683 73637683 T C SNP PSEN1 ENST00000324501 human ensembl 74_37 +1 known missense c.266 p.V89A 1.000 pfam_Peptidase_A22A,prints_Peptidase_A22A pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 tier1 - - 61 0 0.00 53 13 19.70 PSG1 0 genome.wustl.edu 37 19 43372938 43372938 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 43372938 43372938 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.958 p.R320C 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 65 0 0.00 62 13 17.33 PSMD6 0 genome.wustl.edu 37 3 64004658 64004658 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 64004658 64004658 C A SNP PSMD6 ENST00000295901 human ensembl 74_37 -1 known missense c.553 p.G185C 1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 tier1 - - 154 0 0.00 96 19 16.52 PTBP1 0 genome.wustl.edu 37 19 808643 808643 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 808643 808643 G T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1344 p.E448D 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 - - 17 0 0.00 18 5 21.74 PTDSS2 0 genome.wustl.edu 37 11 490498 490498 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 490498 490498 C T SNP PTDSS2 ENST00000308020 human ensembl 74_37 +1 known silent c.1380 p.N460 0.000 NULL pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 tier1 - - 23 0 0.00 31 8 20.51 PTPDC1 0 genome.wustl.edu 37 9 96859943 96859943 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 96859943 96859943 C T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known silent c.933 p.S311 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 tier1 - - 82 0 0.00 88 24 21.43 PTPN13 0 genome.wustl.edu 37 4 87689100 87689100 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 87689100 87689100 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.4475 p.Q1492R 0.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 23 0 0.00 36 4 10.00 PTPN3 0 genome.wustl.edu 37 9 112144026 112144026 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 112144026 112144026 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.2570 p.T857I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 - - 97 0 0.00 101 32 24.06 PTPN3 0 genome.wustl.edu 37 9 112153774 112153774 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 112153774 112153774 T - DEL PTPN3 ENST00000374541 human ensembl 74_37 -1 known frame_shift_del c.2021 p.N674fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 102 0 0.00 91 34 27.20 PTPRK 0 genome.wustl.edu 37 6 128294226 128294228 + In_Frame_Del DEL CGA CGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CGA CGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 128294226 128294228 CGA - DEL PTPRK ENST00000368227 human ensembl 74_37 -1 known in_frame_del c.4261_4259 p.V1420in_frame_del 1.000:0.066:0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 126 0 0.00 128 30 18.99 PTPRM 0 genome.wustl.edu 37 18 8379166 8379166 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 8379166 8379166 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3617 p.T1206M 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 45 0 0.00 57 16 21.92 PTPRZ1 0 genome.wustl.edu 37 7 121651418 121651418 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 121651418 121651418 C A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.2318 p.P773H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 104 0 0.00 121 18 12.95 PTTG1IP 0 genome.wustl.edu 37 21 46276121 46276121 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 46276121 46276121 G A SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known missense c.436 p.R146W 0.918 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 tier1 - - 69 0 0.00 44 11 20.00 PWWP2A 0 genome.wustl.edu 37 5 159520305 159520305 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 159520305 159520305 T - DEL PWWP2A ENST00000307063 human ensembl 74_37 -1 known frame_shift_del c.1352 p.N451fs 0.832 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 tier1 42 0 0.00 29 4 12.12 PYROXD1 0 genome.wustl.edu 37 12 21621613 21621613 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 21621613 21621613 A - DEL PYROXD1 ENST00000240651 human ensembl 74_37 +1 known frame_shift_del c.1428 p.N477fs 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 tier1 37 0 0.00 40 9 18.37 QDPR 0 genome.wustl.edu 37 4 17488824 17488824 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 17488824 17488824 G A SNP QDPR ENST00000508623 human ensembl 74_37 -1 putative nonsense c.472 p.R158* 0.993 NULL NULL - no_errors QDPR HGNC ENSG00000151552 tier1 - - 122 0 0.00 109 56 33.94 QPCT 0 genome.wustl.edu 37 2 37586938 37586938 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 37586938 37586938 C T SNP QPCT ENST00000338415 human ensembl 74_37 +1 known silent c.483 p.A161 0.018 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 tier1 - - 209 0 0.00 202 30 12.93 QSOX2 0 genome.wustl.edu 37 9 139110947 139110947 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 139110947 139110947 T - DEL QSOX2 ENST00000358701 human ensembl 74_37 -1 known frame_shift_del c.885 p.K295fs 0.001 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 tier1 81 0 0.00 89 17 16.04 R3HDM2 0 genome.wustl.edu 37 12 57663564 57663564 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 57663564 57663564 G A SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.1516 p.P506S 0.997 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 78 0 0.00 69 39 36.11 RAB11FIP3 0 genome.wustl.edu 37 16 570783 570783 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 570783 570783 G A SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.2350 p.D784N 1.000 pfam_Rab-bd_FIP-RBD pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 tier1 - - 62 0 0.00 57 9 13.64 RAB17 0 genome.wustl.edu 37 2 238494757 238494757 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 238494757 238494757 G A SNP RAB17 ENST00000264601 human ensembl 74_37 -1 known missense c.41 p.P14L 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB17 HGNC ENSG00000124839 tier1 - - 43 0 0.00 44 14 24.14 RAB35 0 genome.wustl.edu 37 12 120534975 120534975 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 120534975 120534975 C - DEL RAB35 ENST00000432953 human ensembl 74_37 -1 known frame_shift_del c.75 p.T26fs 1.000 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 tier1 30 0 0.00 36 8 18.18 RABGAP1L 0 genome.wustl.edu 37 1 174606565 174606565 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 174606565 174606565 C T SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.1763 p.A588V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 62 0 0.00 64 13 16.88 RAD18 0 genome.wustl.edu 37 3 9000665 9000665 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 9000665 9000665 C T SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known silent c.72 p.R24 0.241 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 tier1 - - 368 0 0.00 358 48 11.82 RALGDS 0 genome.wustl.edu 37 9 135974071 135974071 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 135974071 135974071 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2861 p.R954Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 tier1 - - 58 0 0.00 34 16 32.00 RANBP6 0 genome.wustl.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 6012690 6012690 T - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_del c.2918 p.N973fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 112 0 0.00 124 19 13.29 RANBP9 0 genome.wustl.edu 37 6 13641502 13641502 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 13641502 13641502 T G SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.1263 p.E421D 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 tier1 - - 79 0 0.00 89 16 15.24 RASA1 0 genome.wustl.edu 37 5 86658464 86658467 + Frame_Shift_Del DEL AAGA AAGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 86658464 86658467 AAGA - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_del c.1429_1432 p.K478fs 1.000:1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 96 0 0.00 126 16 11.27 RBM15B 0 genome.wustl.edu 37 3 51431352 51431353 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 51431352 51431353 - G INS RBM15B ENST00000323686 human ensembl 74_37 +1 known frame_shift_ins c.2522_2523 p.S844fs 1.000:1.000 pfam_SPOC_C,superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 tier1 74 0 0.00 46 13 22.03 RBM15B 0 genome.wustl.edu 37 3 51431458 51431460 + In_Frame_Del DEL AGA AGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 51431458 51431460 AGA - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known in_frame_del c.2628_2630 p.E879in_frame_del 0.945:1.000:1.000 superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 tier1 146 0 0.00 77 17 18.09 RBM24 0 genome.wustl.edu 37 6 17292264 17292264 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 17292264 17292264 G T SNP RBM24 ENST00000379052 human ensembl 74_37 +1 known missense c.625 p.A209S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 tier1 - - 69 0 0.00 56 15 21.13 RBM25 0 genome.wustl.edu 37 14 73572736 73572736 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 73572736 73572736 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.1324 p.E442K 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 - - 73 0 0.00 62 20 24.39 REPS1 0 genome.wustl.edu 37 6 139266650 139266650 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 139266650 139266650 A G SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known silent c.462 p.S154 0.779 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 tier1 - - 329 0 0.00 286 60 17.29 RFX4 0 genome.wustl.edu 37 12 107105269 107105269 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 107105269 107105269 T C SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.1000 p.S334P 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 tier1 - - 87 0 0.00 93 21 18.42 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 71 0 0.00 56 32 36.36 RHOBTB2 0 genome.wustl.edu 37 8 22865619 22865619 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 22865619 22865619 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1615 p.R539W 0.817 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 tier1 - - 88 0 0.00 85 10 10.53 RHOT2 0 genome.wustl.edu 37 16 719554 719554 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 719554 719554 C T SNP RHOT2 ENST00000563637 human ensembl 74_37 +1 known nonsense c.139 p.Q47* 1.000 NULL pfam_MIRO-like,superfamily_P-loop_NTPase - no_errors RHOT2 HGNC ENSG00000140983 tier1 - - 77 0 0.00 55 11 16.67 RICTOR 0 genome.wustl.edu 37 5 38967454 38967454 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 38967454 38967454 T C SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.1136 p.H379R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 88 0 0.00 77 22 22.22 RILPL1 0 genome.wustl.edu 37 12 123983969 123983969 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 123983969 123983969 T G SNP RILPL1 ENST00000376874 human ensembl 74_37 -1 known missense c.575 p.E192A 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 tier1 - - 43 0 0.00 51 6 10.53 RIMS2 0 genome.wustl.edu 37 8 104898189 104898189 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 104898189 104898189 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1362 p.L454 0.913 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 56 0 0.00 63 16 20.00 RIPK2 0 genome.wustl.edu 37 8 90801568 90801568 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 90801568 90801568 T - DEL RIPK2 ENST00000220751 human ensembl 74_37 +1 known frame_shift_del c.1143 p.F382fs 0.000 pirsf_Rcpt-int_Ser/Thr_kinase-2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 tier1 115 0 0.00 134 17 11.26 RNF123 0 genome.wustl.edu 37 3 49750068 49750068 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 49750068 49750068 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.2653 p.H885Y 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 80 0 0.00 57 19 25.00 RNF19A 0 genome.wustl.edu 37 8 101300216 101300216 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 101300216 101300216 T - DEL RNF19A ENST00000341084 human ensembl 74_37 -1 known frame_shift_del c.187 p.R63fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 tier1 101 0 0.00 108 52 32.50 RNF20 0 genome.wustl.edu 37 9 104324544 104324544 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 104324544 104324544 C T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.2768 p.P923L 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 152 0 0.00 170 24 12.37 RNF216 0 genome.wustl.edu 37 7 5752372 5752372 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 5752372 5752372 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.1956 p.A652 0.033 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 tier1 rs141187642 - 30 0 0.00 22 8 26.67 ROBO4 0 genome.wustl.edu 37 11 124764211 124764211 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 124764211 124764211 C T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.1204 p.E402K 0.008 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 ROBO4 HGNC ENSG00000154133 tier1 - - 39 0 0.00 30 8 21.05 RPL27A 0 genome.wustl.edu 37 11 8706388 8706388 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 8706388 8706388 T C SNP RPL27A ENST00000314138 human ensembl 74_37 +1 known silent c.267 p.N89 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors RPL27A HGNC ENSG00000166441 tier1 - - 137 0 0.00 140 29 17.16 RPS6KA1 0 genome.wustl.edu 37 1 26885311 26885311 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 26885311 26885311 C - DEL RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known frame_shift_del c.1125 p.S378fs 0.993 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 tier1 101 0 0.00 90 17 15.89 RPS6KA6 0 genome.wustl.edu 37 X 83362701 83362702 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 83362701 83362702 - A INS RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_ins c.1041_1040 p.K348fs 0.999:1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 31 0 0.00 31 6 16.22 RPS6KA6 0 genome.wustl.edu 37 X 83403063 83403063 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 83403063 83403063 T 0 DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.327 p.A110fs 0.992 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,pirsf_Ribosomal_S6_kinase_II,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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 44 0 0.00 59 13 18.06 RTKN2 0 genome.wustl.edu 37 10 63964653 63964653 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 63964653 63964653 C A SNP RTKN2 ENST00000373789 human ensembl 74_37 -1 known missense c.1149 p.K383N 0.934 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 tier1 - - 61 0 0.00 51 15 22.73 RTN3 0 genome.wustl.edu 37 11 63525638 63525638 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 63525638 63525638 A G SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.3064 p.K1022E 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 53 0 0.00 59 12 16.90 RTN4RL1 0 genome.wustl.edu 37 17 1840661 1840661 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 1840661 1840661 T G SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.455 p.Q152P 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 tier1 - - 61 0 0.00 64 13 16.88 RXRA 0 genome.wustl.edu 37 9 137300855 137300855 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 137300855 137300855 T C SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.500 p.L167P 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 tier1 - - 138 0 0.00 143 20 12.20 RXRB 0 genome.wustl.edu 37 6 33166204 33166204 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 33166204 33166204 C G SNP RXRB ENST00000374680 human ensembl 74_37 -1 known missense c.521 p.G174A 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 tier1 - - 119 0 0.00 118 29 19.59 S100PBP 0 genome.wustl.edu 37 1 33321535 33321535 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 33321535 33321535 C A SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.1123 p.R375S 0.999 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 tier1 - - 39 0 0.00 50 12 19.35 SALL1 0 genome.wustl.edu 37 16 51175647 51175647 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 51175647 51175647 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.486 p.G162 0.509 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 53 0 0.00 61 8 11.59 SAMD4A 0 genome.wustl.edu 37 14 55251303 55251303 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 55251303 55251303 C T SNP SAMD4A ENST00000392067 human ensembl 74_37 +1 known missense c.2093 p.S698L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 tier1 - - 177 0 0.00 154 23 12.99 SAP130 0 genome.wustl.edu 37 2 128712715 128712715 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 128712715 128712715 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.2345 p.A782V 0.996 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 66 0 0.00 50 14 21.54 SATL1 0 genome.wustl.edu 37 X 84363667 84363667 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 84363667 84363667 C T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.308 p.G103D 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 19 0 0.00 15 4 21.05 SCAF8 0 genome.wustl.edu 37 6 155141394 155141394 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 155141394 155141394 G A SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known nonsense c.1917 p.W639* 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 69 0 0.00 59 5 7.81 SCAMP2 0 genome.wustl.edu 37 15 75137840 75137840 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 75137840 75137840 C T SNP SCAMP2 ENST00000268099 human ensembl 74_37 -1 known missense c.829 p.V277M 0.996 pfam_SCAMP pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 tier1 - - 134 0 0.00 99 17 14.66 SCIN 0 genome.wustl.edu 37 7 12692216 12692216 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 12692216 12692216 A C SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.2024 p.K675T 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 tier1 - - 39 0 0.00 32 16 33.33 SCRN2 0 genome.wustl.edu 37 17 45915935 45915935 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 45915935 45915935 G A SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known silent c.900 p.P300 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 tier1 - - 127 0 0.00 88 28 23.93 SCYL1 0 genome.wustl.edu 37 11 65304579 65304579 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65304579 65304579 G A SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.1939 p.E647K 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 70 0 0.00 50 5 9.09 SDK1 0 genome.wustl.edu 37 7 3658831 3658831 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 3658831 3658831 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.418 p.R140C 0.003 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 66 0 0.00 59 8 11.94 SEC61A2 0 genome.wustl.edu 37 10 12191899 12191899 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 12191899 12191899 C T SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.401 p.T134M 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 tier1 - - 96 0 0.00 92 20 17.86 SECISBP2L 0 genome.wustl.edu 37 15 49327568 49327568 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 49327568 49327568 C T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.998 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 tier1 - - 78 0 0.00 77 9 10.34 SENP3 0 genome.wustl.edu 37 17 7466956 7466956 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 7466956 7466956 C - DEL SENP3 ENST00000429205 human ensembl 74_37 +1 known frame_shift_del c.563 p.R190fs 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 tier1 13 0 0.00 11 3 21.43 SEPSECS 0 genome.wustl.edu 37 4 25156725 25156725 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 25156725 25156725 C T SNP SEPSECS ENST00000382103 human ensembl 74_37 -1 known missense c.596 p.R199H 1.000 pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase,tigrfam_Sec-tRNA_Se_transferase pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase,tigrfam_Sec-tRNA_Se_transferase - no_errors SEPSECS HGNC ENSG00000109618 tier1 - - 57 0 0.00 52 16 23.53 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 22 0 0.00 23 9 28.12 SETD6 0 genome.wustl.edu 37 16 58550438 58550440 + In_Frame_Del DEL AGA AGA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 58550438 58550440 AGA - DEL SETD6 ENST00000219315 human ensembl 74_37 +1 known in_frame_del c.533_535 p.K179in_frame_del 1.000:0.998:1.000 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 tier1 90 0 0.00 85 15 15.00 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 tier1 16 0 0.00 15 4 21.05 SEZ6L2 0 genome.wustl.edu 37 16 29910264 29910264 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 29910264 29910264 T G SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.77 p.Q26P 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 17 0 0.00 12 4 25.00 SFR1 0 genome.wustl.edu 37 10 105883548 105883548 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 105883548 105883548 G A SNP SFR1 ENST00000336358 human ensembl 74_37 +1 known missense c.398 p.R133H 1.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC ENSG00000156384 tier1 - - 73 0 0.00 82 17 17.17 SFT2D1 0 genome.wustl.edu 37 6 166738051 166738051 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 166738051 166738051 G A SNP SFT2D1 ENST00000361731 human ensembl 74_37 -1 known silent c.384 p.C128 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors SFT2D1 HGNC ENSG00000198818 tier1 - - 62 0 0.00 51 16 23.88 SGIP1 0 genome.wustl.edu 37 1 67091541 67091541 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 67091541 67091541 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.22 p.R8C 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 80 0 0.00 60 22 26.51 SGIP1 0 genome.wustl.edu 37 1 67091613 67091613 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 67091613 67091613 G A SNP SGIP1 ENST00000484988 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 39 0 0.00 48 9 15.79 SGK3 0 genome.wustl.edu 37 8 67755776 67755776 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 67755776 67755776 T C SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known silent c.1068 p.Y356 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_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 tier1 - - 66 0 0.00 69 10 12.66 SGOL1 0 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 tier1 26 0 0.00 23 9 28.12 SH2B2 0 genome.wustl.edu 37 7 101944555 101944555 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 101944555 101944555 C T SNP SH2B2 ENST00000536178 human ensembl 74_37 +1 known missense c.850 p.P284S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors SH2B2 HGNC ENSG00000160999 tier1 - - 31 0 0.00 19 5 20.83 SH3BP4 0 genome.wustl.edu 37 2 235951260 235951260 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 235951260 235951260 C T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.1847 p.A616V 0.999 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 57 0 0.00 47 5 9.62 SH3BP5 0 genome.wustl.edu 37 3 15303785 15303785 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 15303785 15303785 C T SNP SH3BP5 ENST00000383791 human ensembl 74_37 -1 known silent c.507 p.A169 0.002 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 tier1 - - 59 0 0.00 49 11 18.33 SH3KBP1 0 genome.wustl.edu 37 X 19701965 19701965 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 19701965 19701965 T A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.702 p.E234D 0.999 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 - - 179 0 0.00 221 41 15.59 SIK2 0 genome.wustl.edu 37 11 111594795 111594795 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 111594795 111594795 A G SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2723 p.D908G 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 41 0 0.00 38 11 22.45 SIN3B 0 genome.wustl.edu 37 19 16942353 16942353 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 16942353 16942353 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.276 p.E92 0.977 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 tier1 - - 171 0 0.00 127 24 15.89 SIPA1 0 genome.wustl.edu 37 11 65417880 65417880 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 65417880 65417880 C A SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2912 p.P971H 0.401 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 - - 76 0 0.00 95 10 9.52 SKIV2L2 0 genome.wustl.edu 37 5 54635921 54635921 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 54635921 54635921 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.599 p.R200H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 87 0 0.00 63 12 16.00 SLC13A4 0 genome.wustl.edu 37 7 135378949 135378951 + In_Frame_Del DEL TCT TCT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 135378949 135378951 TCT - DEL SLC13A4 ENST00000354042 human ensembl 74_37 -1 known in_frame_del c.1054_1052 p.K351in_frame_del 1.000:1.000:1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 118 0 0.00 164 20 10.87 SLC1A2 0 genome.wustl.edu 37 11 35333963 35333963 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 35333963 35333963 G A SNP SLC1A2 ENST00000278379 human ensembl 74_37 -1 known missense c.343 p.R115C 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 tier1 - - 75 0 0.00 76 20 20.83 SLC1A3 0 genome.wustl.edu 37 5 36608618 36608618 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 36608618 36608618 G T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.93 p.K31N 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 tier1 - - 174 0 0.00 177 27 13.24 SLC22A1 0 genome.wustl.edu 37 6 160543236 160543236 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 160543236 160543236 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.269 p.R90H 0.132 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 tier1 rs138657404 - 85 0 0.00 71 18 20.22 SLC22A17 0 genome.wustl.edu 37 14 23817780 23817780 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 23817780 23817780 G A SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known silent c.627 p.V209 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 tier1 - - 128 0 0.00 66 15 18.52 SLC22A18 0 genome.wustl.edu 37 11 2943692 2943692 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 2943692 2943692 C G SNP SLC22A18 ENST00000312221 human ensembl 74_37 +1 known missense c.993 p.F331L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 tier1 - - 20 0 0.00 23 4 14.81 SLC24A5 0 genome.wustl.edu 37 15 48427102 48427102 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 48427102 48427102 C T SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.511 p.P171S 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 106 0 0.00 73 18 19.78 SLC25A11 0 genome.wustl.edu 37 17 4841478 4841478 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 4841478 4841478 G T SNP SLC25A11 ENST00000225665 human ensembl 74_37 -1 known silent c.708 p.A236 0.968 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A11 HGNC ENSG00000108528 tier1 - - 42 0 0.00 20 8 28.57 SLC25A41 0 genome.wustl.edu 37 19 6433605 6433605 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 6433605 6433605 G - DEL SLC25A41 ENST00000321510 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 47 0 0.00 46 10 17.86 SLC25A51 0 genome.wustl.edu 37 9 37887974 37887974 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 37887974 37887974 C T SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.574 p.G192S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 tier1 - - 106 0 0.00 106 20 15.87 SLC26A4 0 genome.wustl.edu 37 7 107340599 107340600 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 107340599 107340600 - A INS SLC26A4 ENST00000265715 human ensembl 74_37 +1 known frame_shift_ins c.1686_1687 p.C564fs 0.993:1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 40 0 0.00 62 7 10.14 SLC2A4 0 genome.wustl.edu 37 17 7189157 7189157 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 7189157 7189157 C T SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known missense c.1256 p.A419V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 tier1 - - 89 0 0.00 75 9 10.71 SLC35F2 0 genome.wustl.edu 37 11 107673780 107673780 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 107673780 107673780 G T SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.886 p.L296M 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 tier1 - - 53 0 0.00 75 14 15.73 SLC37A4 0 genome.wustl.edu 37 11 118895782 118895782 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 118895782 118895782 G A SNP SLC37A4 ENST00000357590 human ensembl 74_37 -1 known silent c.1194 p.G398 0.387 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar_P_transporter pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar_P_transporter - no_errors SLC37A4 HGNC ENSG00000137700 tier1 rs200713586 - 72 0 0.00 63 14 18.18 SLC44A4 0 genome.wustl.edu 37 6 31846750 31846750 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 31846750 31846750 C - DEL SLC44A4 ENST00000229729 human ensembl 74_37 -1 known frame_shift_del c.8 p.G3fs 0.192 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 109 0 0.00 74 13 14.94 SLC46A3 0 genome.wustl.edu 37 13 29275608 29275609 + RNA INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 29275608 29275609 - T INS SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors SLC46A3 HGNC ENSG00000139508 tier1 84 0 0.00 73 8 9.88 SLC4A10 0 genome.wustl.edu 37 2 162696407 162696407 + Missense_Mutation SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 162696407 162696407 G C SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.386 p.G129A 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 73 0 0.00 66 15 18.52 SLC6A10P 0 genome.wustl.edu 37 16 32893959 32893959 + RNA SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 32893959 32893959 G A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.310 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 126 0 0.00 96 12 11.11 SLC6A3 0 genome.wustl.edu 37 5 1432800 1432800 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 1432800 1432800 C T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.432 p.T144 0.682 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 43 0 0.00 27 6 18.18 SLC7A1 0 genome.wustl.edu 37 13 30107025 30107025 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 30107025 30107025 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.465 p.N155 0.358 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 tier1 - - 103 0 0.00 97 18 15.65 SLC9A8 0 genome.wustl.edu 37 20 48467301 48467301 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 48467301 48467301 T - DEL SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_del c.537 p.F182fs 0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 56 0 0.00 62 19 23.46 SLFN13 0 genome.wustl.edu 37 17 33767863 33767863 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 33767863 33767863 G A SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known silent c.2445 p.T815 0.010 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 101 0 0.00 86 18 17.31 SLIT3 0 genome.wustl.edu 37 5 168199819 168199819 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 168199819 168199819 T C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1426 p.S476G 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C 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 - - 79 0 0.00 42 11 20.75 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 tier1 16 0 0.00 17 4 19.05 SMARCAD1 0 genome.wustl.edu 37 4 95173909 95173910 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 95173909 95173910 - A INS SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known frame_shift_ins c.1032_1033 p.N346fs 0.996:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 tier1 44 0 0.00 32 9 21.95 SMG5 0 genome.wustl.edu 37 1 156230288 156230288 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 156230288 156230288 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2237 p.R746H 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 rs146907826 - 90 0 0.00 93 16 14.68 SMG6 0 genome.wustl.edu 37 17 2186147 2186147 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 2186147 2186147 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known nonsense c.2455 p.Q819* 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 45 0 0.00 39 10 20.41 SNED1 0 genome.wustl.edu 37 2 242002244 242002244 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 242002244 242002244 G T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.2294 p.G765V 0.994 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 17 0 0.00 15 4 21.05 SNORD116-14 0 genome.wustl.edu 37 15 25325290 25325290 + RNA SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 25325290 25325290 G C SNP SNORD116-14 ENST00000383894 human ensembl 74_37 +1 known rna NULL NULL 0.164 - - - no_errors SNORD116-14 HGNC ENSG00000206621 tier1 - - 336 0 0.00 279 51 15.45 SNX20 0 genome.wustl.edu 37 16 50707432 50707432 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 50707432 50707432 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.836 p.A279V 0.003 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 tier1 - - 60 0 0.00 54 12 18.18 SNX27 0 genome.wustl.edu 37 1 151665010 151665010 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 151665010 151665010 A G SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.1339 p.S447G 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 tier1 - - 79 0 0.00 60 21 25.93 SOAT1 0 genome.wustl.edu 37 1 179320502 179320502 + Missense_Mutation SNP G G C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 179320502 179320502 G C SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.1501 p.V501L 0.993 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 tier1 - - 232 0 0.00 189 36 16.00 SORBS2 0 genome.wustl.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 186515044 186515044 C - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.3130 p.E1044fs 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 145 0 0.00 149 22 12.87 SORCS1 0 genome.wustl.edu 37 10 108447993 108447993 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 108447993 108447993 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1517 p.A506V 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 86 0 0.00 95 21 17.80 SORCS1 0 genome.wustl.edu 37 10 108923913 108923913 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 108923913 108923913 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.372 p.A124 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 69 0 0.00 45 10 17.86 SORL1 0 genome.wustl.edu 37 11 121458834 121458834 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 121458834 121458834 A C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3920 p.D1307A 0.994 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 71 0 0.00 72 6 7.69 SP140 0 genome.wustl.edu 37 2 231155281 231155281 + Splice_Site SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 231155281 231155281 T C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known splice_site c.1825+2 e19+2 0.643 - - - no_errors SP140 HGNC ENSG00000079263 tier1 - - 53 0 0.00 60 13 17.81 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 76 0 0.00 90 10 10.00 SP2 0 genome.wustl.edu 37 17 45994101 45994101 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 45994101 45994101 G A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.664 p.A222T 0.644 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 tier1 - - 78 0 0.00 87 13 13.00 SPACA3 0 genome.wustl.edu 37 17 31318961 31318961 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 31318961 31318961 T C SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known missense c.5 p.V2A 0.001 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 tier1 - - 46 0 0.00 33 4 10.81 SPATA16 0 genome.wustl.edu 37 3 172737357 172737357 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 172737357 172737357 A G SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.767 p.V256A 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 tier1 - - 121 0 0.00 108 40 26.67 SPATA31C1 0 genome.wustl.edu 37 9 90534246 90534246 + RNA SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 90534246 90534246 A T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SPATA31C1 HGNC ENSG00000230246 tier1 - - 117 0 0.00 130 18 12.16 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 tier1 39 0 0.00 19 17 47.22 SPDYE4 0 genome.wustl.edu 37 17 8658872 8658872 + Missense_Mutation SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 8658872 8658872 A T SNP SPDYE4 ENST00000328794 human ensembl 74_37 -1 known missense c.451 p.W151R 0.130 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE4 HGNC ENSG00000183318 tier1 - - 221 0 0.00 179 30 14.35 SPOCD1 0 genome.wustl.edu 37 1 32266187 32266187 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 32266187 32266187 C A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.1457 p.G486V 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 tier1 - - 20 0 0.00 10 4 28.57 SPOCK3 0 genome.wustl.edu 37 4 167983655 167983655 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 167983655 167983655 G A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.232 p.P78S 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 122 0 0.00 112 23 17.04 SPSB1 0 genome.wustl.edu 37 1 9427589 9427589 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 9427589 9427589 G A SNP SPSB1 ENST00000328089 human ensembl 74_37 +1 known silent c.777 p.T259 0.230 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 tier1 rs142728049 - 44 0 0.00 27 11 28.95 SPTA1 0 genome.wustl.edu 37 1 158624466 158624466 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 158624466 158624466 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2971 p.R991C 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 53 0 0.00 46 10 17.86 SPTAN1 0 genome.wustl.edu 37 9 131353806 131353806 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 131353806 131353806 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.3057 p.A1019 0.000 pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 154 0 0.00 144 30 17.24 SPTBN1 0 genome.wustl.edu 37 2 54874381 54874381 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 54874381 54874381 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.4980 p.A1660 0.021 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 94 0 0.00 91 21 18.75 SPTBN2 0 genome.wustl.edu 37 11 66476462 66476462 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 66476462 66476462 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.1102 p.L368 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 80 0 0.00 94 9 8.74 SPTBN2 0 genome.wustl.edu 37 11 66476463 66476463 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 66476463 66476463 C A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.1101 p.V367 0.998 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 81 0 0.00 92 8 8.00 SRGN 0 genome.wustl.edu 37 10 70864014 70864014 + RNA DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 70864014 70864014 T - DEL SRGN ENST00000462445 human ensembl 74_37 +1 known rna NULL NULL 0.118 - - - no_errors SRGN HGNC ENSG00000122862 tier1 12 0 0.00 12 2 14.29 SRP68 0 genome.wustl.edu 37 17 74042147 74042147 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 74042147 74042147 A G SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.1271 p.L424P 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 tier1 - - 202 0 0.00 167 30 15.15 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 280 0 0.00 318 49 13.35 SRSF11 0 genome.wustl.edu 37 1 70715965 70715965 + RNA SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 70715965 70715965 A G SNP SRSF11 ENST00000461935 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SRSF11 HGNC ENSG00000116754 tier1 - - 101 0 0.00 97 16 14.16 SSBP1 0 genome.wustl.edu 37 7 141443377 141443377 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 141443377 141443377 C T SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known silent c.102 p.H34 1.000 pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd - no_errors SSBP1 HGNC ENSG00000106028 tier1 - - 106 0 0.00 98 17 14.78 SSBP3 0 genome.wustl.edu 37 1 54870573 54870573 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 54870573 54870573 C T SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known silent c.87 p.L29 1.000 smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 tier1 - - 39 0 0.00 27 8 22.86 SSPO 0 genome.wustl.edu 37 7 149512329 149512329 + RNA DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 149512329 149512329 C - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.845 - - - no_errors SSPO HGNC ENSG00000197558 tier1 52 0 0.00 60 12 16.67 ST18 0 genome.wustl.edu 37 8 53076582 53076582 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 53076582 53076582 G A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1364 p.S455F 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 82 0 0.00 87 12 12.12 ST7L 0 genome.wustl.edu 37 1 113159546 113159546 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 113159546 113159546 A - DEL ST7L ENST00000485753 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ST7L HGNC ENSG00000007341 tier1 48 0 0.00 52 9 14.75 ST8SIA3 0 genome.wustl.edu 37 18 55020155 55020155 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 55020155 55020155 G A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known silent c.78 p.S26 0.998 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 59 0 0.00 65 13 16.46 STAG2 0 genome.wustl.edu 37 X 123220560 123220560 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 123220560 123220560 A G SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.3217 p.K1073E 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 tier1 - - 102 0 0.00 85 12 12.37 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 tier1 48 0 0.00 58 13 18.31 STAT4 0 genome.wustl.edu 37 2 191941020 191941020 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 191941020 191941020 G A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.305 p.A102V 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 101 0 0.00 98 19 16.24 STPG2 0 genome.wustl.edu 37 4 98902462 98902462 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 98902462 98902462 A - DEL STPG2 ENST00000295268 human ensembl 74_37 -1 known frame_shift_del c.620 p.L207fs 0.995 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 tier1 56 0 0.00 32 6 15.79 SULF2 0 genome.wustl.edu 37 20 46319007 46319007 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 46319007 46319007 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known silent c.600 p.S200 0.965 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 tier1 rs200381009 - 37 0 0.00 24 23 48.94 SURF6 0 genome.wustl.edu 37 9 136199592 136199592 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 136199592 136199592 C T SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.398 p.S133N 0.002 NULL pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 106 0 0.00 126 17 11.81 SV2A 0 genome.wustl.edu 37 1 149880800 149880800 + Silent SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 149880800 149880800 G T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known silent c.1323 p.P441 0.562 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 - - 132 0 0.00 104 22 17.46 SYMPK 0 genome.wustl.edu 37 19 46330877 46330877 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 46330877 46330877 C T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.2072 p.R691H 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 26 0 0.00 20 5 20.00 SYNE1 0 genome.wustl.edu 37 6 152646335 152646335 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 152646335 152646335 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15541 p.L5181M 0.963 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 240 0 0.00 204 51 19.92 SYNE1 0 genome.wustl.edu 37 6 152651426 152651426 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 152651426 152651426 T - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.14394 p.E4799fs 0.002 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 52 0 0.00 46 8 14.81 SYNE1 0 genome.wustl.edu 37 6 152652350 152652350 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 152652350 152652350 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.13470 p.S4490 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 98 0 0.00 92 16 14.81 SYNE1 0 genome.wustl.edu 37 6 152660414 152660414 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 152660414 152660414 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12313 p.K4105E 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 148 0 0.00 111 26 18.98 SYNE1 0 genome.wustl.edu 37 6 152668298 152668298 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 152668298 152668298 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11974 p.G3992C 0.001 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 94 0 0.00 75 23 23.47 SYNE2 0 genome.wustl.edu 37 14 64644116 64644116 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 64644116 64644116 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17471 p.S5824I 0.995 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 69 0 0.00 58 12 17.14 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 47 0 0.00 25 9 26.47 SYT3 0 genome.wustl.edu 37 19 51135931 51135931 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 51135931 51135931 G - DEL SYT3 ENST00000338916 human ensembl 74_37 -1 known frame_shift_del c.286 p.L96fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 40 0 0.00 33 11 25.00 SYVN1 0 genome.wustl.edu 37 11 64897217 64897217 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 64897217 64897217 C T SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known missense c.1579 p.V527M 0.986 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 tier1 rs146285421 - 77 0 0.00 85 8 8.60 TAP2 0 genome.wustl.edu 37 6 32800519 32800519 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 32800519 32800519 C T SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1028 p.R343H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 tier1 - - 88 0 0.00 72 19 20.88 TBC1D2 0 genome.wustl.edu 37 9 101014133 101014133 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 101014133 101014133 G A SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.445 p.P149S 0.537 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 tier1 - - 112 0 0.00 123 19 13.38 TBC1D2B 0 genome.wustl.edu 37 15 78316588 78316588 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 78316588 78316588 G A SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known silent c.1380 p.G460 0.239 superfamily_Prefoldin pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 tier1 - - 43 0 0.00 42 10 19.23 TBL1X 0 genome.wustl.edu 37 X 9656061 9656061 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 9656061 9656061 G A SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.362 p.G121D 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 tier1 - - 74 0 0.00 64 6 8.45 TCERG1 0 genome.wustl.edu 37 5 145849244 145849246 + In_Frame_Del DEL TAT TAT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 145849244 145849246 TAT - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known in_frame_del c.1336_1338 p.Y448in_frame_del 0.997:0.998:0.847 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 166 0 0.00 150 21 12.28 TCERG1 0 genome.wustl.edu 37 5 145859464 145859465 + Frame_Shift_Del DEL TA TA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 145859464 145859465 TA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.1809_1810 p.M604fs 1.000:1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 43 0 0.00 62 9 12.68 TCF20 0 genome.wustl.edu 37 22 42611137 42611137 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 42611137 42611137 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known nonsense c.175 p.R59* 0.998 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 31 0 0.00 24 8 25.00 TCHH 0 genome.wustl.edu 37 1 152082921 152082921 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 152082921 152082921 T G SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.2772 p.Q924H 0.139 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 183 0 0.00 161 26 13.83 TENM2 0 genome.wustl.edu 37 5 167675195 167675195 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 167675195 167675195 C - DEL TENM2 ENST00000518659 human ensembl 74_37 +1 known frame_shift_del c.7251 p.L2419fs 1.000 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 88 0 0.00 86 20 18.87 TESPA1 0 genome.wustl.edu 37 12 55356792 55356792 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 55356792 55356792 C T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.890 p.R297Q 0.998 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 44 0 0.00 53 17 24.29 TEX13B 0 genome.wustl.edu 37 X 107224324 107224324 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 107224324 107224324 G A SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known silent c.925 p.L309 0.000 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 tier1 - - 136 0 0.00 179 24 11.82 TFAM 0 genome.wustl.edu 37 10 60148570 60148571 + Frame_Shift_Del DEL AA AA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 60148570 60148571 AA - DEL TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_del c.432_433 p.K147fs 0.006:0.936 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 tier1 106 0 0.00 94 26 21.67 TFAP4 0 genome.wustl.edu 37 16 4312624 4312624 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 4312624 4312624 G A SNP TFAP4 ENST00000573476 human ensembl 74_37 -1 known nonsense c.202 p.R68* 1.000 NULL NULL - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 102 0 0.00 73 26 26.26 TGDS 0 genome.wustl.edu 37 13 95229654 95229654 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 95229654 95229654 C A SNP TGDS ENST00000261296 human ensembl 74_37 -1 known missense c.855 p.M285I 1.000 pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 tier1 - - 305 0 0.00 266 45 14.42 THSD1 0 genome.wustl.edu 37 13 52971586 52971586 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 52971586 52971586 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.802 p.V268I 0.013 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 tier1 rs201109452 - 56 0 0.00 44 13 22.81 THSD4 0 genome.wustl.edu 37 15 72057383 72057383 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 72057383 72057383 A C SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2614 p.T872P 0.779 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 124 0 0.00 113 23 16.91 THUMPD2 0 genome.wustl.edu 37 2 39964118 39964118 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 39964118 39964118 G A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known silent c.1269 p.N423 0.000 NULL pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 tier1 - - 129 0 0.00 138 24 14.72 TIMD4 0 genome.wustl.edu 37 5 156381463 156381463 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 156381463 156381463 G A SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known silent c.363 p.N121 0.848 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 tier1 - - 80 0 0.00 55 11 16.67 TLN1 0 genome.wustl.edu 37 9 35707793 35707793 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 35707793 35707793 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.4567 p.R1523C 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 152 0 0.00 157 27 14.67 TM4SF4 0 genome.wustl.edu 37 3 149192781 149192781 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 149192781 149192781 C T SNP TM4SF4 ENST00000305354 human ensembl 74_37 +1 known silent c.117 p.N39 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF4 HGNC ENSG00000169903 tier1 - - 45 0 0.00 46 12 20.69 TM4SF5 0 genome.wustl.edu 37 17 4686195 4686195 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 4686195 4686195 C - DEL TM4SF5 ENST00000270560 human ensembl 74_37 +1 known frame_shift_del c.442 p.P149fs 0.991 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 tier1 68 0 0.00 78 9 10.34 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152717 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 27152717 27152717 A - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 tier1 10 0 0.00 10 2 16.67 TMC1 0 genome.wustl.edu 37 9 75404223 75404223 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 75404223 75404223 A G SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.1214 p.E405G 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 - - 54 0 0.00 65 18 21.69 TMC8 0 genome.wustl.edu 37 17 76134211 76134212 + Frame_Shift_Ins INS - - C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 76134211 76134212 - C INS TMC8 ENST00000318430 human ensembl 74_37 +1 known frame_shift_ins c.1475_1476 p.L494fs 1.000:1.000 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 tier1 86 0 0.00 71 12 14.46 TMEM117 0 genome.wustl.edu 37 12 44781931 44781931 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 44781931 44781931 T A SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.1021 p.Y341N 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 59 0 0.00 54 7 11.48 TMEM127 0 genome.wustl.edu 37 2 96919562 96919562 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 96919562 96919562 G - DEL TMEM127 ENST00000258439 human ensembl 74_37 -1 known frame_shift_del c.701 p.P234fs 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 tier1 35 0 0.00 28 7 20.00 TMEM132E 0 genome.wustl.edu 37 17 32959854 32959854 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 32959854 32959854 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known silent c.1344 p.P448 0.938 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 170 0 0.00 160 32 16.58 TMEM248 0 genome.wustl.edu 37 7 66415981 66415981 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 66415981 66415981 G A SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known silent c.639 p.T213 0.081 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 tier1 - - 137 0 0.00 128 60 31.91 TMEM38B 0 genome.wustl.edu 37 9 108483827 108483828 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 108483827 108483828 - T INS TMEM38B ENST00000374692 human ensembl 74_37 +1 known frame_shift_ins c.279_280 p.C95fs 0.034:0.996 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 tier1 62 0 0.00 82 8 8.89 TMOD1 0 genome.wustl.edu 37 9 100353622 100353622 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 100353622 100353622 A - DEL TMOD1 ENST00000259365 human ensembl 74_37 +1 known frame_shift_del c.920 p.N309fs 1.000 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 tier1 57 0 0.00 70 13 15.66 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 91 0 0.00 92 14 13.21 TNFAIP8L2 0 genome.wustl.edu 37 1 151131238 151131238 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 151131238 151131238 C T SNP TNFAIP8L2 ENST00000368910 human ensembl 74_37 +1 known missense c.65 p.A22V 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L2 HGNC ENSG00000163154 tier1 - - 54 0 0.00 39 18 31.58 TNIP1 0 genome.wustl.edu 37 5 150411908 150411908 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 150411908 150411908 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known nonsense c.1816 p.R606* 0.212 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 45 0 0.00 33 9 21.43 TNK2 0 genome.wustl.edu 37 3 195595229 195595229 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 195595229 195595229 G - DEL TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_del c.2129 p.P710fs 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 62 0 0.00 53 9 14.52 TNKS 0 genome.wustl.edu 37 8 9437751 9437751 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 9437751 9437751 G A SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.756 p.P252 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 tier1 - - 115 0 0.00 141 14 9.03 TNKS1BP1 0 genome.wustl.edu 37 11 57077118 57077119 + Frame_Shift_Del DEL CT CT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 57077118 57077119 CT - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.3067_3066 p.G1023fs 0.000:0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 tier1 66 0 0.00 86 11 11.34 TOP3A 0 genome.wustl.edu 37 17 18217965 18217965 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 18217965 18217965 T - DEL TOP3A ENST00000321105 human ensembl 74_37 -1 known frame_shift_del c.128 p.N43fs 1.000 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 tier1 40 0 0.00 44 6 12.00 TOX 0 genome.wustl.edu 37 8 59727935 59727935 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 59727935 59727935 G A SNP TOX ENST00000361421 human ensembl 74_37 -1 known nonsense c.1354 p.Q452* 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 tier1 - - 79 0 0.00 53 16 23.19 TOX2 0 genome.wustl.edu 37 20 42695496 42695496 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 42695496 42695496 A G SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.1483 p.S495G 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 tier1 - - 96 0 0.00 85 19 18.27 TRAF7 0 genome.wustl.edu 37 16 2220615 2220615 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 2220615 2220615 C - DEL TRAF7 ENST00000326181 human ensembl 74_37 +1 known frame_shift_del c.232 p.I80fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 tier1 16 0 0.00 16 2 11.11 TRAM1L1 0 genome.wustl.edu 37 4 118006514 118006514 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 118006514 118006514 G - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.36 p.V13fs 0.971 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 66 0 0.00 39 16 29.09 TRAT1 0 genome.wustl.edu 37 3 108572494 108572494 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 108572494 108572494 G A SNP TRAT1 ENST00000295756 human ensembl 74_37 +1 known missense c.331 p.A111T 0.479 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 tier1 rs138948679 - 85 0 0.00 93 14 13.08 TRIM23 0 genome.wustl.edu 37 5 64887705 64887705 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 64887705 64887705 C T SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.1616 p.R539H 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 tier1 - - 89 0 0.00 83 14 14.43 TRIM50 0 genome.wustl.edu 37 7 72733043 72733043 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 72733043 72733043 C T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known silent c.504 p.S168 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 tier1 - - 101 0 0.00 114 8 6.56 TRIM68 0 genome.wustl.edu 37 11 4626437 4626437 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 4626437 4626437 G A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.298 p.R100C 0.082 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 tier1 - - 160 0 0.00 173 35 16.83 TRIM72 0 genome.wustl.edu 37 16 31230709 31230709 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 31230709 31230709 C T SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.586 p.R196C 0.144 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 tier1 - - 83 0 0.00 60 8 11.76 TRIP12 0 genome.wustl.edu 37 2 230678584 230678584 + Splice_Site SNP A A T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 230678584 230678584 A T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known splice_site c.1842+2 e11+2 1.000 - - - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 57 0 0.00 54 11 16.92 TRIP6 0 genome.wustl.edu 37 7 100470274 100470274 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 100470274 100470274 G A SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.1207 p.G403S 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 tier1 rs201241149 - 76 0 0.00 68 15 18.07 TRRAP 0 genome.wustl.edu 37 7 98609744 98609745 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 98609744 98609745 - A INS TRRAP ENST00000359863 human ensembl 74_37 +1 known frame_shift_ins c.11346_11347 p.T3784fs 1.000:1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 60 0 0.00 53 24 31.17 TRRAP 0 genome.wustl.edu 37 7 98579530 98579530 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 98579530 98579530 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8752 p.E2918K 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 15 0 0.00 16 4 20.00 TSNARE1 0 genome.wustl.edu 37 8 143425616 143425616 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 143425616 143425616 C T SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known silent c.456 p.L152 0.966 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 tier1 - - 51 0 0.00 36 14 28.00 TTC14 0 genome.wustl.edu 37 3 180327691 180327691 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 180327691 180327691 G - DEL TTC14 ENST00000296015 human ensembl 74_37 +1 known frame_shift_del c.1674 p.K560fs 0.515 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 152 0 0.00 120 20 14.29 TTC17 0 genome.wustl.edu 37 11 43469553 43469553 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 11 43469553 43469553 A - DEL TTC17 ENST00000039989 human ensembl 74_37 +1 known frame_shift_del c.2667 p.K891fs 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 tier1 62 0 0.00 91 10 9.90 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 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 TTK HGNC ENSG00000112742 tier1 103 0 0.00 119 22 15.60 TTLL13 0 genome.wustl.edu 37 15 90794006 90794006 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 90794006 90794006 A - DEL TTLL13 ENST00000438251 human ensembl 74_37 +1 known frame_shift_del c.144 p.N50fs 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 126 0 0.00 108 20 15.62 TTN 0 genome.wustl.edu 37 2 179419187 179419187 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 2 179419187 179419187 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81183 p.N27061 0.994 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-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 - - 35 0 0.00 29 7 19.44 TUBGCP6 0 genome.wustl.edu 37 22 50656518 50656518 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 50656518 50656518 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.5197 p.V1733I 0.998 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 79 0 0.00 81 15 15.62 TULP2 0 genome.wustl.edu 37 19 49385324 49385324 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 49385324 49385324 G A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known missense c.1412 p.S471L 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 tier1 - - 133 0 0.00 111 32 22.38 TWIST1 0 genome.wustl.edu 37 7 19156596 19156596 + Missense_Mutation SNP C C G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 19156596 19156596 C G SNP TWIST1 ENST00000242261 human ensembl 74_37 -1 known missense c.349 p.E117Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST1 HGNC ENSG00000122691 tier1 - - 25 0 0.00 19 5 20.83 U2AF1L4 0 genome.wustl.edu 37 19 36234928 36234928 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 36234928 36234928 C T SNP U2AF1L4 ENST00000412391 human ensembl 74_37 -1 known missense c.467 p.R156H 0.986 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom - no_errors U2AF1L4 HGNC ENSG00000161265 tier1 - - 66 0 0.00 69 19 21.59 U2AF2 0 genome.wustl.edu 37 19 56171977 56171977 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 56171977 56171977 C T SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known missense c.326 p.A109V 1.000 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 tier1 - - 40 0 0.00 40 11 21.57 UBA1 0 genome.wustl.edu 37 X 47058616 47058616 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 47058616 47058616 T C SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.185 p.L62S 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 tier1 - - 112 0 0.00 101 15 12.93 UBAC1 0 genome.wustl.edu 37 9 138831605 138831605 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 138831605 138831605 C T SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.877 p.A293T 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 tier1 - - 121 0 0.00 128 20 13.42 UBE2O 0 genome.wustl.edu 37 17 74395811 74395811 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 74395811 74395811 A G SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known silent c.1347 p.G449 0.001 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 - - 60 0 0.00 67 9 11.84 UBE2Q2 0 genome.wustl.edu 37 15 76182787 76182787 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 76182787 76182787 G A SNP UBE2Q2 ENST00000267938 human ensembl 74_37 +1 known missense c.896 p.G299D 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 tier1 - - 58 0 0.00 69 14 16.87 UGT3A1 0 genome.wustl.edu 37 5 35955929 35955929 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 35955929 35955929 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.1113 p.G371 0.143 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 tier1 - - 73 0 0.00 65 9 12.00 UHRF1BP1 0 genome.wustl.edu 37 6 34825995 34825995 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 34825995 34825995 G A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1862 p.R621H 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 131 0 0.00 112 22 16.42 ULK1 0 genome.wustl.edu 37 12 132394352 132394352 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 132394352 132394352 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.699 p.Y233 0.865 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 16 0 0.00 9 4 30.77 ULK1 0 genome.wustl.edu 37 12 132404111 132404111 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 132404111 132404111 T C SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2779 p.C927R 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 115 0 0.00 99 18 15.38 URM1 0 genome.wustl.edu 37 9 131152050 131152050 + RNA SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 131152050 131152050 G T SNP URM1 ENST00000483206 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors URM1 HGNC ENSG00000167118 tier1 - - 25 0 0.00 34 8 19.05 USH2A 0 genome.wustl.edu 37 1 215933091 215933091 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 215933091 215933091 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.11142 p.Q3714 0.037 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 96 0 0.00 97 30 23.62 USP13 0 genome.wustl.edu 37 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 179472611 179472611 C - DEL USP13 ENST00000263966 human ensembl 74_37 +1 known frame_shift_del c.1890 p.I633fs 0.990 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 122 0 0.00 116 21 15.33 USP16 0 genome.wustl.edu 37 21 30411466 30411466 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 21 30411466 30411466 G T SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.852 p.Q284H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 69 0 0.00 43 13 23.21 USP20 0 genome.wustl.edu 37 9 132636877 132636877 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 132636877 132636877 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1763 p.R588H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 tier1 - - 54 0 0.00 67 12 15.19 USP3-AS1 0 genome.wustl.edu 37 15 63881043 63881043 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 63881043 63881043 A - DEL USP3-AS1 ENST00000558831 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP3-AS1 HGNC ENSG00000259248 tier1 114 0 0.00 91 16 14.95 USP44 0 genome.wustl.edu 37 12 95918499 95918499 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 95918499 95918499 A G SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.1690 p.C564R 0.995 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 tier1 - - 68 0 0.00 84 14 14.29 USP48 0 genome.wustl.edu 37 1 22033386 22033386 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 22033386 22033386 A - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975 p.S659fs 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 39 0 0.00 41 11 21.15 USP8 0 genome.wustl.edu 37 15 50769164 50769164 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 50769164 50769164 G A SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.968 p.R323H 1.000 superfamily_Rhodanese-like_dom pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 tier1 - - 86 0 0.00 90 16 15.09 UTP14C 0 genome.wustl.edu 37 13 52605215 52605215 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 52605215 52605215 C T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.2275 p.R759C 0.000 NULL pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 tier1 - - 117 0 0.00 102 18 15.00 VAX1 0 genome.wustl.edu 37 10 118897537 118897537 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 118897537 118897537 G A SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known nonsense c.31 p.R11* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 108 0 0.00 62 10 13.89 VMA21 0 genome.wustl.edu 37 X 150573564 150573564 + RNA SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 150573564 150573564 T C SNP VMA21 ENST00000477649 human ensembl 74_37 +1 known rna NULL NULL 0.811 - - - no_errors VMA21 HGNC ENSG00000160131 tier1 - - 36 0 0.00 28 18 39.13 VNN2 0 genome.wustl.edu 37 6 133072300 133072302 + In_Frame_Del DEL CTC CTC - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 133072300 133072302 CTC - DEL VNN2 ENST00000326499 human ensembl 74_37 -1 known in_frame_del c.1184_1182 p.R396in_frame_del 0.000:0.000:0.028 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 tier1 140 0 0.00 128 25 16.34 VPS13B 0 genome.wustl.edu 37 8 100520072 100520072 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 100520072 100520072 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4232 p.R1411H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 122 0 0.00 126 23 15.44 VPS13C 0 genome.wustl.edu 37 15 62202416 62202416 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 62202416 62202416 T A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.8804 p.N2935I 0.858 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 29 0 0.00 36 8 18.18 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 57 0 0.00 55 11 16.67 VPS4B 0 genome.wustl.edu 37 18 61067829 61067829 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 61067829 61067829 A - DEL VPS4B ENST00000238497 human ensembl 74_37 -1 known frame_shift_del c.592 p.S198fs 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 tier1 80 0 0.00 75 17 18.48 WAPAL 0 genome.wustl.edu 37 10 88259565 88259565 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 88259565 88259565 T - DEL WAPAL ENST00000298767 human ensembl 74_37 -1 known frame_shift_del c.1435 p.R479fs 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 tier1 101 0 0.00 72 17 19.10 WBP11 0 genome.wustl.edu 37 12 14949850 14949850 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 14949850 14949850 A G SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.278 p.L93P 1.000 pfam_WW_dom-bd_prot_11 pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 tier1 - - 71 0 0.00 91 15 14.15 WDFY3 0 genome.wustl.edu 37 4 85758175 85758175 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 85758175 85758175 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.483 p.F161fs 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 56 0 0.00 42 30 41.67 WDR13 0 genome.wustl.edu 37 X 48457201 48457201 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 48457201 48457201 C - DEL WDR13 ENST00000218056 human ensembl 74_37 +1 known frame_shift_del c.138 p.P48fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 tier1 21 0 0.00 18 6 25.00 WDR6 0 genome.wustl.edu 37 3 49052267 49052267 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 49052267 49052267 C - DEL WDR6 ENST00000395474 human ensembl 74_37 +1 known frame_shift_del c.3002 p.S1003fs 0.113 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 tier1 69 0 0.00 59 16 21.33 WDR7 0 genome.wustl.edu 37 18 54385206 54385206 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 54385206 54385206 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.1590 p.Q530 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 96 0 0.00 100 23 18.70 WDR72 0 genome.wustl.edu 37 15 53992111 53992111 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 53992111 53992111 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1601 p.C534Y 1.000 superfamily_WD40_repeat_dom,smart_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 WDR72 HGNC ENSG00000166415 tier1 - - 111 0 0.00 117 27 18.75 WDR96 0 genome.wustl.edu 37 10 105974107 105974107 + Missense_Mutation SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 105974107 105974107 A G SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.494 p.M165T 1.000 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 tier1 - - 96 0 0.00 96 21 17.95 WFIKKN2 0 genome.wustl.edu 37 17 48917979 48917979 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 48917979 48917979 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.1330 p.R444C 1.000 superfamily_TIMP-like_OB-fold pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,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 WFIKKN2 HGNC ENSG00000173714 tier1 - - 67 0 0.00 58 10 14.49 WHSC1 0 genome.wustl.edu 37 4 1920062 1920062 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 1920062 1920062 A G SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.1122 p.A374 0.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 63 0 0.00 73 7 8.75 WHSC1 0 genome.wustl.edu 37 4 1940189 1940189 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 4 1940189 1940189 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.1686 p.I562 0.580 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 28 0 0.00 19 5 20.83 WIZ 0 genome.wustl.edu 37 19 15558946 15558946 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 15558946 15558946 C T SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.173 p.R58Q 0.975 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 rs61732027 - 128 0 0.00 103 22 17.60 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 tier1 62 0 0.00 68 17 20.00 WSCD2 0 genome.wustl.edu 37 12 108603925 108603925 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 12 108603925 108603925 C T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.525 p.F175 0.999 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 tier1 - - 52 0 0.00 71 13 15.29 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 tier1 55 0 0.00 65 15 18.75 XIST 0 genome.wustl.edu 37 X 73042889 73042890 + RNA INS - - T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 73042889 73042890 - T INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 91 0 0.00 94 14 12.96 XIST 0 genome.wustl.edu 37 X 73066021 73066021 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 73066021 73066021 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XIST HGNC ENSG00000229807 tier1 150 0 0.00 152 29 16.02 XIST 0 genome.wustl.edu 37 X 73066989 73066989 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 73066989 73066989 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 60 0 0.00 42 7 14.29 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 tier1 109 0 0.00 107 23 17.69 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 12 0 0.00 7 4 36.36 XPNPEP3 0 genome.wustl.edu 37 22 41265087 41265087 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 22 41265087 41265087 G A SNP XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known missense c.149 p.S50N 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 tier1 - - 130 0 0.00 92 29 23.97 YARS 0 genome.wustl.edu 37 1 33252034 33252034 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 33252034 33252034 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known nonsense c.835 p.R279* 1.000 pfam_aa-tRNA-synth_Ic pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 tier1 - - 81 0 0.00 58 16 21.62 YIF1B 0 genome.wustl.edu 37 19 38799655 38799655 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 38799655 38799655 G A SNP YIF1B ENST00000339413 human ensembl 74_37 -1 known missense c.445 p.R149C 0.966 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1B HGNC ENSG00000167645 tier1 - - 10 0 0.00 9 4 30.77 YLPM1 0 genome.wustl.edu 37 14 75230626 75230626 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 75230626 75230626 C - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.434 p.P147fs 0.872 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 52 0 0.00 56 14 20.00 ZACN 0 genome.wustl.edu 37 17 74077668 74077669 + Frame_Shift_Del DEL TT TT - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 17 74077668 74077669 TT - DEL ZACN ENST00000334586 human ensembl 74_37 +1 known frame_shift_del c.712_713 p.L238fs 0.001:0.127 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 tier1 200 0 0.00 179 36 16.74 ZBTB18 0 genome.wustl.edu 37 1 244218294 244218294 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 244218294 244218294 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known silent c.1218 p.D406 0.997 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 55 0 0.00 57 14 19.72 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 78 0 0.00 49 10 16.95 ZBTB7C 0 genome.wustl.edu 37 18 45556141 45556141 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 45556141 45556141 G A SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.1350 p.C450 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 tier1 - - 39 0 0.00 45 5 10.00 ZC3H18 0 genome.wustl.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 88694459 88694459 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2401 p.Q804fs 0.269 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 105 0 0.00 92 16 14.81 ZCCHC5 0 genome.wustl.edu 37 X 77913434 77913434 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb X 77913434 77913434 G A SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.484 p.P162S 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 58 0 0.00 64 26 28.89 ZDHHC23 0 genome.wustl.edu 37 3 113667803 113667803 + Missense_Mutation SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 113667803 113667803 T C SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.154 p.C52R 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 72 0 0.00 58 14 19.18 ZDHHC23 0 genome.wustl.edu 37 3 113673092 113673092 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 3 113673092 113673092 G A SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.707 p.R236H 0.007 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 82 0 0.00 79 18 18.56 ZFP36L1 0 genome.wustl.edu 37 14 69256455 69256455 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 14 69256455 69256455 C - DEL ZFP36L1 ENST00000336440 human ensembl 74_37 -1 known frame_shift_del c.812 p.G271fs 0.994 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 tier1 126 0 0.00 119 16 11.85 ZFR 0 genome.wustl.edu 37 5 32380247 32380247 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 32380247 32380247 C T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known silent c.2673 p.P891 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 - - 65 0 0.00 62 15 19.48 ZFR2 0 genome.wustl.edu 37 19 3819222 3819222 + Silent SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 3819222 3819222 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.1752 p.R584 0.998 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 19 0 0.00 16 9 36.00 ZHX1 0 genome.wustl.edu 37 8 124265717 124265717 + Silent SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 124265717 124265717 T G SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known silent c.2470 p.R824 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 153 0 0.00 140 58 29.29 ZMAT4 0 genome.wustl.edu 37 8 40532368 40532368 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 40532368 40532368 G A SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known silent c.432 p.D144 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 tier1 - - 200 0 0.00 206 96 31.68 ZMYM1 0 genome.wustl.edu 37 1 35578948 35578948 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 35578948 35578948 C A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.1517 p.T506N 0.998 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 139 0 0.00 130 19 12.67 ZMYM6 0 genome.wustl.edu 37 1 35478108 35478108 + Silent SNP A A G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 35478108 35478108 A G SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known silent c.870 p.N290 1.000 smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 55 0 0.00 44 7 13.73 ZMYND19 0 genome.wustl.edu 37 9 140481542 140481542 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 140481542 140481542 C - DEL ZMYND19 ENST00000298585 human ensembl 74_37 -1 known frame_shift_del c.236 p.G79fs 0.986 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 tier1 95 0 0.00 110 15 12.00 ZNF107 0 genome.wustl.edu 37 7 64167970 64167970 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 64167970 64167970 C T SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1288 p.H430Y 0.886 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 tier1 - - 40 0 0.00 39 18 31.58 ZNF236 0 genome.wustl.edu 37 18 74637260 74637260 + Missense_Mutation SNP G G T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 74637260 74637260 G T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.3771 p.E1257D 0.916 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 59 0 0.00 56 11 16.42 ZNF251 0 genome.wustl.edu 37 8 145948591 145948591 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 8 145948591 145948591 C T SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.454 p.G152R 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 ZNF251 HGNC ENSG00000198169 tier1 - - 80 0 0.00 90 29 24.17 ZNF264 0 genome.wustl.edu 37 19 57723778 57723778 + Missense_Mutation SNP A A C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 57723778 57723778 A C SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.1313 p.H438P 0.066 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 ZNF264 HGNC ENSG00000083844 tier1 - - 57 0 0.00 38 13 25.49 ZNF276 0 genome.wustl.edu 37 16 89799797 89799799 + In_Frame_Del DEL GAA GAA - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 89799797 89799799 GAA - DEL ZNF276 ENST00000443381 human ensembl 74_37 +1 known in_frame_del c.1257_1259 p.K422in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 tier1 235 0 0.00 197 25 11.26 ZNF280D 0 genome.wustl.edu 37 15 56996377 56996377 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 56996377 56996377 G A SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known silent c.117 p.D39 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 rs144812565 - 60 0 0.00 32 12 27.27 ZNF318 0 genome.wustl.edu 37 6 43308156 43308156 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 6 43308156 43308156 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.3580 p.R1194W 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 97 0 0.00 79 18 18.56 ZNF32-AS1 0 genome.wustl.edu 37 10 44140350 44140350 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 10 44140350 44140350 C T SNP ZNF32-AS1 ENST00000453284 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF32-AS1 HGNC ENSG00000226245 tier1 - - 16 0 0.00 7 5 41.67 ZNF333 0 genome.wustl.edu 37 19 14829104 14829104 + Missense_Mutation SNP T T G TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 14829104 14829104 T G SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.965 p.I322S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 tier1 - - 77 0 0.00 54 16 22.86 ZNF366 0 genome.wustl.edu 37 5 71757158 71757158 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 5 71757158 71757158 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.166 p.R56W 0.925 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 tier1 - - 71 0 0.00 64 17 20.99 ZNF407 0 genome.wustl.edu 37 18 72343034 72343034 + Missense_Mutation SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 18 72343034 72343034 C A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.59 p.A20E 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 34 0 0.00 29 4 12.12 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 12384448 12384448 A - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.766 p.W256fs 0.001 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 ZNF44 HGNC ENSG00000197857 tier1 126 0 0.00 139 34 19.65 ZNF496 0 genome.wustl.edu 37 1 247492873 247492873 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 247492873 247492873 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.8 p.T3I 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 113 0 0.00 89 16 15.24 ZNF614 0 genome.wustl.edu 37 19 52519584 52519584 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 52519584 52519584 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1267 p.G423R 0.999 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 ZNF614 HGNC ENSG00000142556 tier1 - - 244 0 0.00 157 36 18.65 ZNF646 0 genome.wustl.edu 37 16 31089802 31089802 + Silent SNP T T C TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 31089802 31089802 T C SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known silent c.2157 p.A719 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 63 0 0.00 55 13 19.12 ZNF689 0 genome.wustl.edu 37 16 30616697 30616697 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 16 30616697 30616697 G A SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known nonsense c.391 p.R131* 0.023 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 ZNF689 HGNC ENSG00000156853 tier1 - - 178 0 0.00 139 30 17.65 ZNF695 0 genome.wustl.edu 37 1 247171218 247171218 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 247171218 247171218 C T SNP ZNF695 ENST00000498046 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF695 HGNC ENSG00000197472 tier1 - - 75 0 0.00 60 10 14.29 ZNF710 0 genome.wustl.edu 37 15 90616367 90616367 + Missense_Mutation SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 15 90616367 90616367 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1523 p.R508Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 71 0 0.00 68 19 21.84 ZNF724P 0 genome.wustl.edu 37 19 23405564 23405564 + Missense_Mutation SNP T T A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 23405564 23405564 T A SNP ZNF724P ENST00000418100 human ensembl 74_37 -1 novel missense c.1483 p.T495S 0.006 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 ZNF724P HGNC ENSG00000196081 tier1 - - 82 0 0.00 74 14 15.91 ZNF767 0 genome.wustl.edu 37 7 149318636 149318636 + RNA SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 149318636 149318636 C T SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF767 HGNC ENSG00000133624 tier1 - - 78 0 0.00 73 23 23.96 ZNF782 0 genome.wustl.edu 37 9 99581156 99581156 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 9 99581156 99581156 C T SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known nonsense c.1149 p.W383* 0.003 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 ZNF782 HGNC ENSG00000196597 tier1 - - 227 0 0.00 224 81 26.56 ZNF786 0 genome.wustl.edu 37 7 148768462 148768462 + Silent SNP G G A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 7 148768462 148768462 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known silent c.1402 p.L468 0.983 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 ZNF786 HGNC ENSG00000197362 36 0 0.00 37 4 9.76 ZNF799 0 genome.wustl.edu 37 19 12502590 12502590 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 12502590 12502590 A - DEL ZNF799 ENST00000430385 human ensembl 74_37 -1 known frame_shift_del c.622 p.W208fs 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 ZNF799 HGNC ENSG00000196466 tier1 156 0 0.00 173 24 12.18 ZNF831 0 genome.wustl.edu 37 20 57766587 57766587 + Silent SNP C C A TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 20 57766587 57766587 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.513 p.P171 0.965 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 156 0 0.00 158 34 17.71 ZNF878 0 genome.wustl.edu 37 19 12155709 12155709 + Frame_Shift_Del DEL T T - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 12155709 12155709 T - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.648 p.K216fs 0.168 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 ZNF878 HGNC ENSG00000257446 tier1 253 0 0.00 249 39 13.54 ZSCAN5B 0 genome.wustl.edu 37 19 56701609 56701609 + Missense_Mutation SNP C C T TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 19 56701609 56701609 C T SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.1075 p.V359M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 tier1 - - 65 0 0.00 75 17 18.48 ZSWIM5 0 genome.wustl.edu 37 1 45553830 45553830 + Frame_Shift_Del DEL A A - TCGA-R5-A7ZI-01A-11D-A34U-08 TCGA-R5-A7ZI-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15e238ea-5b13-4c95-99a8-40133047c0f0 b968dce4-3c7c-42e2-a0cd-408f6a8e2ddb 1 45553830 45553830 A - DEL ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known frame_shift_del c.675 p.F225fs 1.000 pfscan_Znf_SWIM pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 112 0 0.00 97 13 11.82