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 ABCA13 0 genome.wustl.edu 37 7 48312083 48312083 + Silent SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 48312083 48312083 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.2820 p.E940 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 64 0 0.00 85 43 33.59 ADCY1 0 genome.wustl.edu 37 7 45747982 45747982 + Frame_Shift_Del DEL C C - TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 45747982 45747982 C - DEL ADCY1 ENST00000297323 human ensembl 74_37 +1 known frame_shift_del c.2851 p.L951fs 0.072 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 53 0 0.00 71 9 11.25 ADCY1 0 genome.wustl.edu 37 7 45747984 45747985 + Frame_Shift_Del DEL GG GG - TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 45747984 45747985 GG - DEL ADCY1 ENST00000297323 human ensembl 74_37 +1 known frame_shift_del c.2853_2854 p.A952fs 0.888:0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 55 0 0.00 73 9 10.98 ADCY1 0 genome.wustl.edu 37 7 45747991 45747993 + In_Frame_Del DEL TTT TTT - TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 45747991 45747993 TTT - DEL ADCY1 ENST00000297323 human ensembl 74_37 +1 known in_frame_del c.2860_2862 p.F954in_frame_del 1.000:0.999:0.982 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 58 0 0.00 67 9 11.84 ADCY1 0 genome.wustl.edu 37 7 45747995 45747995 + Frame_Shift_Del DEL C C - TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 45747995 45747995 C - DEL ADCY1 ENST00000297323 human ensembl 74_37 +1 known frame_shift_del c.2864 p.I956fs 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 61 0 0.00 71 9 11.25 ANKAR 0 genome.wustl.edu 37 2 190554396 190554396 + Missense_Mutation SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 190554396 190554396 T G SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.745 p.F249V 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 tier1 - - 203 0 0.00 209 87 29.29 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 10 0 0.00 14 3 17.65 ARHGAP25 0 genome.wustl.edu 37 2 69040465 69040465 + Nonsense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 69040465 69040465 C T SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known nonsense c.721 p.R241* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 tier1 - - 61 0 0.00 75 27 26.47 ARHGEF28 0 genome.wustl.edu 37 5 73136559 73136559 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 73136559 73136559 G C SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.1401 p.K467N 0.364 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 13 0 0.00 18 4 18.18 ASXL1 0 genome.wustl.edu 37 20 31022441 31022442 + Frame_Shift_Ins INS - - G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 20 31022441 31022442 - G INS ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_ins c.1926_1927 p.G645fs 1.000:1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 21 0 0.00 27 5 15.62 AUTS2 0 genome.wustl.edu 37 7 70252343 70252343 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 70252343 70252343 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.2457 p.A819 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 23 0 0.00 28 7 20.00 BRPF1 0 genome.wustl.edu 37 3 9787292 9787292 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 9787292 9787292 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.3104 p.S1035F 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 53 0 0.00 53 23 30.26 C4A 0 genome.wustl.edu 37 6 31964330 31964330 + Missense_Mutation SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 31964330 31964330 T G SNP C4A ENST00000428956 human ensembl 74_37 +1 known missense c.3629 p.L1210R 0.001 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4A HGNC ENSG00000244731 tier1 rs28357076 - 56 0 0.00 76 7 8.43 C4A 0 genome.wustl.edu 37 6 31964331 31964331 + Silent SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 31964331 31964331 C G SNP C4A ENST00000428956 human ensembl 74_37 +1 known silent c.3630 p.L1210 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4A HGNC ENSG00000244731 tier1 rs28357077 - 57 0 0.00 76 7 8.43 CABIN1 0 genome.wustl.edu 37 22 24458419 24458420 + In_Frame_Ins INS - - TGA TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 22 24458419 24458420 - TGA INS CABIN1 ENST00000263119 human ensembl 74_37 +1 known in_frame_ins c.1627_1628 p.545in_frame_insM 0.999:1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 86 0 0.00 65 27 29.35 CACNA2D4 0 genome.wustl.edu 37 12 1965376 1965376 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 1965376 1965376 G T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.2028 p.H676Q 0.996 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 104 0 0.00 126 46 26.74 CARHSP1 0 genome.wustl.edu 37 16 8949065 8949065 + Missense_Mutation SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 8949065 8949065 C G SNP CARHSP1 ENST00000311052 human ensembl 74_37 -1 known missense c.400 p.G134R 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CARHSP1 HGNC ENSG00000153048 tier1 - - 25 0 0.00 38 18 32.14 CASC5 0 genome.wustl.edu 37 15 40921539 40921539 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 15 40921539 40921539 G A SNP CASC5 ENST00000534204 human ensembl 74_37 +1 known missense c.133 p.E45K 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 62 0 0.00 67 26 27.96 CASP7 0 genome.wustl.edu 37 10 115489260 115489260 + Silent SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 10 115489260 115489260 G T SNP CASP7 ENST00000369321 human ensembl 74_37 +1 known silent c.972 p.V324 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 tier1 - - 105 0 0.00 133 56 29.63 CASP8AP2 0 genome.wustl.edu 37 6 90572158 90572158 + RNA SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 90572158 90572158 A T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 160 0 0.00 140 65 31.71 CD34 0 genome.wustl.edu 37 1 208063100 208063101 + Frame_Shift_Ins INS - - AA TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 208063100 208063101 - AA INS CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_ins c.83_82 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 21 0 0.00 24 5 17.24 CD36 0 genome.wustl.edu 37 7 80290392 80290392 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 80290392 80290392 G A SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.295 p.A99T 0.941 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 - - 45 0 0.00 112 35 23.81 CDC27 0 genome.wustl.edu 37 17 45247328 45247328 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 17 45247328 45247328 C T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.332 p.G111D 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 83 0 0.00 156 14 8.24 CDC5L 0 genome.wustl.edu 37 6 44413523 44413523 + Silent SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 44413523 44413523 A G SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known silent c.2223 p.Q741 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 85 0 0.00 131 7 5.07 CDKL2 0 genome.wustl.edu 37 4 76551139 76551139 + Nonsense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 4 76551139 76551139 C A SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known nonsense c.34 p.E12* 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 CDKL2 HGNC ENSG00000138769 tier1 - - 108 0 0.00 118 8 6.35 CETP 0 genome.wustl.edu 37 16 57005960 57005960 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 57005960 57005960 G A SNP CETP ENST00000200676 human ensembl 74_37 +1 known missense c.715 p.V239I 0.013 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,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 - - 45 0 0.00 62 29 31.87 CISD1 0 genome.wustl.edu 37 10 60029033 60029033 + RNA SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 10 60029033 60029033 C G SNP CISD1 ENST00000464703 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CISD1 HGNC ENSG00000122873 tier1 - - 48 0 0.00 36 21 36.84 CPXM2 0 genome.wustl.edu 37 10 125521429 125521429 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 10 125521429 125521429 T A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1736 p.E579V 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 24 0 0.00 21 13 38.24 DDR2 0 genome.wustl.edu 37 1 162748389 162748389 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 162748389 162748389 G C SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.2303 p.S768T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 157 0 0.00 190 98 34.03 DOK4 0 genome.wustl.edu 37 16 57507925 57507926 + Frame_Shift_Ins INS - - A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 57507925 57507926 - A INS DOK4 ENST00000340099 human ensembl 74_37 -1 known frame_shift_ins c.626_625 p.Y209fs 1.000:1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK4 HGNC ENSG00000125170 tier1 48 0 0.00 63 27 30.00 EFS 0 genome.wustl.edu 37 14 23826720 23826720 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 14 23826720 23826720 C T SNP EFS ENST00000216733 human ensembl 74_37 -1 known silent c.1401 p.P467 0.001 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 tier1 rs149633716 - 50 0 0.00 23 27 54.00 EIF2B1 0 genome.wustl.edu 37 12 124118188 124118188 + RNA SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 124118188 124118188 C T SNP EIF2B1 ENST00000543940 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF2B1 HGNC ENSG00000111361 tier1 - - 31 0 0.00 20 23 53.49 ENSG00000269082 0 genome.wustl.edu 37 19 53459345 53459345 + RNA SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 19 53459345 53459345 G T SNP ENSG00000269082 ENST00000600068 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2620I22.1 Clone_based_vega_gene ENSG00000269082 tier1 - - 137 0 0.00 160 58 26.61 ENSG00000273398 0 genome.wustl.edu 37 2 68413786 68413787 + Splice_Site INS - - A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 68413786 68413787 - A INS ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known splice_site_ins c.251-3_251-2 e4-2 0.994:0.028 - - - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 tier1 22 0 0.00 29 3 9.38 EPB41L4B 0 genome.wustl.edu 37 9 112029789 112029789 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 9 112029789 112029789 G T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.497 p.S166Y 1.000 smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 65 0 0.00 35 24 40.68 FAM189A2 0 genome.wustl.edu 37 9 71986449 71986449 + Missense_Mutation SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 9 71986449 71986449 T G SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.47 p.V16G 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 tier1 - - 96 0 0.00 49 41 45.56 FAM98A 0 genome.wustl.edu 37 2 33820673 33820673 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 33820673 33820673 G A SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.85 p.L29F 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 85 0 0.00 81 36 30.77 FANCD2 0 genome.wustl.edu 37 3 10094104 10094104 + Nonsense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 10094104 10094104 C T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known nonsense c.1579 p.Q527* 0.098 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 50 0 0.00 84 24 22.22 FAT2 0 genome.wustl.edu 37 5 150946835 150946835 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 150946835 150946835 T A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1658 p.Q553L 0.957 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 63 0 0.00 87 15 14.56 FATE1 0 genome.wustl.edu 37 X 150889935 150889935 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b X 150889935 150889935 C T SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known silent c.303 p.Y101 0.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 tier1 - - 30 0 0.00 43 11 20.37 FERMT2 0 genome.wustl.edu 37 14 53327116 53327116 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 14 53327116 53327116 C T SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known missense c.1691 p.R564K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 tier1 - - 57 0 0.00 30 45 59.21 FLT1 0 genome.wustl.edu 37 13 28964224 28964224 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 13 28964224 28964224 G C SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1678 p.H560D 0.995 pfscan_Ig-like_dom 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 - - 61 0 0.00 79 27 25.47 GFPT2 0 genome.wustl.edu 37 5 179729555 179729555 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 179729555 179729555 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.1872 p.D624 0.139 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 70 0 0.00 108 10 8.47 GOLGA4 0 genome.wustl.edu 37 3 37365656 37365656 + Missense_Mutation SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 37365656 37365656 A T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.2279 p.Q760L 0.699 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 64 0 0.00 76 42 35.59 GPR141 0 genome.wustl.edu 37 7 37780085 37780085 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 37780085 37780085 C T SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known silent c.90 p.G30 0.747 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 99 0 0.00 129 63 32.81 HARBI1 0 genome.wustl.edu 37 11 46637339 46637339 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 11 46637339 46637339 C T SNP HARBI1 ENST00000326737 human ensembl 74_37 -1 known missense c.449 p.C150Y 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 tier1 - - 184 0 0.00 181 98 35.13 HHIPL2 0 genome.wustl.edu 37 1 222695972 222695972 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 222695972 222695972 G T SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.2146 p.Q716K 0.000 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 - - 235 0 0.00 279 175 38.38 HTT 0 genome.wustl.edu 37 4 3224203 3224203 + Missense_Mutation SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 4 3224203 3224203 A T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.7459 p.S2487C 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 36 0 0.00 57 15 20.83 IFIT1B 0 genome.wustl.edu 37 10 91143190 91143190 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 10 91143190 91143190 G T SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known missense c.120 p.W40C 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 tier1 - - 62 0 0.00 84 39 31.71 IRS4 0 genome.wustl.edu 37 X 107977175 107977175 + Silent SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b X 107977175 107977175 A G SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.2400 p.S800 0.279 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 106 0 0.00 62 70 52.63 KDM2B 0 genome.wustl.edu 37 12 121868207 121868207 + Missense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 121868207 121868207 C A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3895 p.D1299Y 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 124 0 0.00 173 34 16.43 KDM5D 0 genome.wustl.edu 37 Y 21894488 21894488 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b Y 21894488 21894488 G C SNP KDM5D ENST00000541639 human ensembl 74_37 -1 known missense c.1074 p.C358W 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5D HGNC ENSG00000012817 tier1 - - 19 0 0.00 9 12 57.14 KIAA1549 0 genome.wustl.edu 37 7 138583748 138583748 + Missense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 138583748 138583748 C A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.3800 p.R1267I 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 114 0 0.00 65 81 55.48 KIAA1549L 0 genome.wustl.edu 37 11 33564824 33564824 + Missense_Mutation SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 11 33564824 33564824 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.824 p.N275S 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 78 0 0.00 107 8 6.90 KMO 0 genome.wustl.edu 37 1 241725547 241725547 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 241725547 241725547 T A SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.530 p.L177Q 1.000 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 tier1 - - 76 0 0.00 81 48 37.21 KMT2D 0 genome.wustl.edu 37 12 49446007 49446007 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 49446007 49446007 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.1459 p.R487W 0.001 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 - - 101 0 0.00 72 51 41.13 LAMA2 0 genome.wustl.edu 37 6 129618971 129618971 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 129618971 129618971 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.2998 p.A1000S 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 24 0 0.00 15 13 46.43 LMTK2 0 genome.wustl.edu 37 7 97784092 97784092 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 97784092 97784092 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.473 p.T158M 0.986 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 147 0 0.00 239 68 22.15 MAGEB10 0 genome.wustl.edu 37 X 27839810 27839810 + Missense_Mutation SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b X 27839810 27839810 A T SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known missense c.387 p.K129N 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 tier1 - - 37 0 0.00 14 37 72.55 MASP1 0 genome.wustl.edu 37 3 186969441 186969441 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 186969441 186969441 G C SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.992 p.T331R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 90 0 0.00 133 108 44.81 MDGA1 0 genome.wustl.edu 37 6 37612396 37612396 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 37612396 37612396 T A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2290 p.I764F 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 22 0 0.00 30 4 11.76 MED1 0 genome.wustl.edu 37 17 37571510 37571510 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 17 37571510 37571510 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.1380 p.D460 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 60 0 0.00 88 20 18.52 MRPS27 0 genome.wustl.edu 37 5 71616160 71616160 + RNA SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 71616160 71616160 C T SNP MRPS27 ENST00000506957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MRPS27 HGNC ENSG00000113048 tier1 - - 31 0 0.00 36 18 33.33 MS4A4A 0 genome.wustl.edu 37 11 60064785 60064785 + Nonsense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 11 60064785 60064785 G A SNP MS4A4A ENST00000337908 human ensembl 74_37 +1 known nonsense c.317 p.W106* 0.909 pfam_CD20-like pfam_CD20-like - no_errors MS4A4A HGNC ENSG00000110079 tier1 - - 93 0 0.00 117 41 25.95 MYLK 0 genome.wustl.edu 37 3 123418942 123418942 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 123418942 123418942 G C SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3373 p.P1125A 0.993 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 101 0 0.00 79 36 31.30 MYOF 0 genome.wustl.edu 37 10 95111211 95111211 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 10 95111211 95111211 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3781 p.G1261R 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 51 0 0.00 53 20 27.40 NCOR1 0 genome.wustl.edu 37 17 16004959 16004959 + Silent SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 17 16004959 16004959 G C SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.2295 p.P765 0.313 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 78 0 0.00 36 44 55.00 NCOR1 0 genome.wustl.edu 37 17 16097825 16097825 + Missense_Mutation SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 17 16097825 16097825 T G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.59 p.Y20S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 rs73281920 - 16 0 0.00 19 7 26.92 OGFOD1 0 genome.wustl.edu 37 16 56500820 56500820 + Missense_Mutation SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 56500820 56500820 C G SNP OGFOD1 ENST00000566157 human ensembl 74_37 +1 known missense c.598 p.L200V 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 tier1 - - 148 0 0.00 197 81 29.03 PAPOLB 0 genome.wustl.edu 37 7 4899920 4899920 + Missense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 4899920 4899920 C A SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.1519 p.A507S 0.055 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 tier1 - - 62 0 0.00 73 28 27.72 PAX1 0 genome.wustl.edu 37 20 21687508 21687508 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 20 21687508 21687508 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.719 p.P240L 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 36 0 0.00 48 15 23.81 PCDHA10 0 genome.wustl.edu 37 5 140237187 140237187 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 140237187 140237187 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1554 p.A518 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 160 0 0.00 171 71 29.22 PDGFRA 0 genome.wustl.edu 37 4 55127506 55127506 + Nonsense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 4 55127506 55127506 C A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known nonsense c.294 p.Y98* 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-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 - no_errors PDGFRA HGNC ENSG00000134853 tier1 - - 174 0 0.00 215 12 5.29 PLCL1 0 genome.wustl.edu 37 2 198950584 198950584 + Silent SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 198950584 198950584 T G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2343 p.T781 0.803 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 149 0 0.00 138 57 29.23 PLCZ1 0 genome.wustl.edu 37 12 18865900 18865900 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 18865900 18865900 C T SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.590 p.R197H 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 66 0 0.00 133 16 10.74 POC1A 0 genome.wustl.edu 37 3 52179896 52179896 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 52179896 52179896 G A SNP POC1A ENST00000296484 human ensembl 74_37 -1 known silent c.645 p.D215 0.900 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1A HGNC ENSG00000164087 tier1 - - 34 0 0.00 24 11 31.43 POU5F1B 0 genome.wustl.edu 37 8 128428668 128428668 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 8 128428668 128428668 G A SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.557 p.R186H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 tier1 - - 20 0 0.00 15 8 34.78 PPP1R1B 0 genome.wustl.edu 37 17 37790189 37790189 + Missense_Mutation SNP A A C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 17 37790189 37790189 A C SNP PPP1R1B ENST00000254079 human ensembl 74_37 +1 known missense c.295 p.N99H 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1B HGNC ENSG00000131771 tier1 - - 74 0 0.00 133 48 26.52 PRIM2 0 genome.wustl.edu 37 6 57393144 57393144 + Missense_Mutation SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 57393144 57393144 A T SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.794 p.Q265L 1.000 pfam_DNA_primase_lsu_euk/arc pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 rs3763183 - 11 0 0.00 17 5 22.73 PRPF38B 0 genome.wustl.edu 37 1 109239038 109239038 + RNA SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 109239038 109239038 A G SNP PRPF38B ENST00000467302 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF38B HGNC ENSG00000134186 tier1 - - 23 0 0.00 17 10 37.04 PTPRM 0 genome.wustl.edu 37 18 8384622 8384622 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 18 8384622 8384622 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3985 p.V1329F 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_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 - - 97 0 0.00 105 19 15.32 RBM27 0 genome.wustl.edu 37 5 145651188 145651188 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 145651188 145651188 T A SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.2939 p.V980D 0.995 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 56 0 0.00 59 31 34.44 RERG 0 genome.wustl.edu 37 12 15264290 15264290 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 15264290 15264290 G A SNP RERG ENST00000256953 human ensembl 74_37 -1 known silent c.180 p.D60 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 tier1 - - 106 0 0.00 118 71 37.57 ROBO2 0 genome.wustl.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 77657037 77657038 - C INS ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.V1078fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 47 0 0.00 64 14 17.95 RSPH10B 0 genome.wustl.edu 37 7 5984721 5984721 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 5984721 5984721 C T SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known silent c.1503 p.A501 0.966 NULL pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 tier1 rs201017159 - 18 0 0.00 41 11 21.15 SAFB 0 genome.wustl.edu 37 19 5667092 5667092 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 19 5667092 5667092 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known silent c.2370 p.H790 0.768 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 97 0 0.00 142 45 24.06 SCN2A 0 genome.wustl.edu 37 2 166179774 166179774 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 166179774 166179774 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1780 p.A594T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 50 0 0.00 48 31 39.24 SCN3A 0 genome.wustl.edu 37 2 165997429 165997429 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 165997429 165997429 G T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1751 p.A584E 0.214 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 41 0 0.00 68 28 29.17 SCTR 0 genome.wustl.edu 37 2 120221801 120221801 + Missense_Mutation SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 120221801 120221801 G T SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.534 p.H178Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 tier1 - - 35 0 0.00 38 19 33.33 SEL1L3 0 genome.wustl.edu 37 4 25804006 25804006 + Missense_Mutation SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 4 25804006 25804006 C G SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.1855 p.G619R 1.000 smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 27 0 0.00 58 12 17.14 SEMA5A 0 genome.wustl.edu 37 5 9043030 9043030 + Silent SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 9043030 9043030 G C SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.3204 p.L1068 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 54 0 0.00 69 24 25.81 SH3BP4 0 genome.wustl.edu 37 2 235949729 235949729 + Missense_Mutation SNP T T C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 235949729 235949729 T C SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.316 p.S106P 0.421 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 34 0 0.00 19 15 44.12 SLC17A8 0 genome.wustl.edu 37 12 100811902 100811902 + Missense_Mutation SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 100811902 100811902 C G SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known missense c.1393 p.P465A 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 tier1 - - 94 0 0.00 54 60 52.63 SLC20A1 0 genome.wustl.edu 37 2 113418754 113418754 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 113418754 113418754 T A SNP SLC20A1 ENST00000272542 human ensembl 74_37 +1 known missense c.1829 p.V610E 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 tier1 - - 80 0 0.00 93 29 23.77 SLC4A10 0 genome.wustl.edu 37 2 162762260 162762260 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 162762260 162762260 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known silent c.1860 p.I620 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,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 - - 57 0 0.00 55 32 36.78 SLC4A10 0 genome.wustl.edu 37 2 162762306 162762306 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 162762306 162762306 T A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1906 p.F636I 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,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 - - 33 0 0.00 45 13 22.41 SNX32 0 genome.wustl.edu 37 11 65617423 65617423 + Missense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 11 65617423 65617423 C A SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.174 p.F58L 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 tier1 - - 24 0 0.00 32 5 13.51 SRGAP1 0 genome.wustl.edu 37 12 64377832 64377832 + Missense_Mutation SNP A A T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 64377832 64377832 A T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.173 p.E58V 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 103 0 0.00 1175 72 5.77 ST7L 0 genome.wustl.edu 37 1 113119655 113119655 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 113119655 113119655 C T SNP ST7L ENST00000358039 human ensembl 74_37 -1 known missense c.1198 p.V400M 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 tier1 rs201867659 - 139 0 0.00 189 32 14.48 STAB1 0 genome.wustl.edu 37 3 52544395 52544395 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 52544395 52544395 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.2659 p.H887Y 0.009 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 71 0 0.00 99 6 5.71 STL 0 genome.wustl.edu 37 6 125233545 125233545 + RNA SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 125233545 125233545 T G SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 - - 95 0 0.00 57 46 44.66 SUDS3 0 genome.wustl.edu 37 12 118823960 118823960 + Missense_Mutation SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 12 118823960 118823960 C A SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known missense c.310 p.Q104K 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 tier1 - - 9 0 0.00 10 4 28.57 TBC1D1 0 genome.wustl.edu 37 4 38047490 38047490 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 4 38047490 38047490 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.1595 p.S532N 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,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 TBC1D1 HGNC ENSG00000065882 tier1 - - 42 0 0.00 124 26 17.33 THRAP3 0 genome.wustl.edu 37 1 36769445 36769445 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 36769445 36769445 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2695 p.R899W 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 tier1 rs201119618 - 62 0 0.00 86 28 24.56 THSD7B 0 genome.wustl.edu 37 2 138421127 138421127 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 138421127 138421127 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.4642 p.L1548F 0.994 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 24 0 0.00 16 8 33.33 TMC5 0 genome.wustl.edu 37 16 19483451 19483451 + Silent SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 19483451 19483451 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known silent c.1824 p.T608 0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 111 0 0.00 100 57 36.31 TNKS1BP1 0 genome.wustl.edu 37 11 57077358 57077358 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 11 57077358 57077358 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2827 p.R943W 0.459 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 tier1 - - 85 0 0.00 103 70 39.77 TPRN 0 genome.wustl.edu 37 9 140094141 140094141 + Silent SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 9 140094141 140094141 C A SNP TPRN ENST00000409012 human ensembl 74_37 -1 known silent c.1023 p.G341 0.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 tier1 - - 10 0 0.00 16 9 36.00 TREML1 0 genome.wustl.edu 37 6 41118050 41118050 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 41118050 41118050 C T SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known silent c.570 p.G190 1.000 NULL pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 tier1 - - 31 0 0.00 22 6 21.43 TREML1 0 genome.wustl.edu 37 6 41118051 41118051 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 6 41118051 41118051 C T SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known missense c.569 p.G190E 1.000 NULL pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 tier1 - - 30 0 0.00 22 6 21.43 TRIM41 0 genome.wustl.edu 37 5 180651617 180651617 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 5 180651617 180651617 G C SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.618 p.Q206H 0.005 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 tier1 - - 35 0 0.00 32 20 37.74 TTC32 0 genome.wustl.edu 37 2 20101582 20101582 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 20101582 20101582 G C SNP TTC32 ENST00000333610 human ensembl 74_37 -1 known missense c.34 p.L12V 0.012 pfam_TPR-4 pfam_TPR_1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC32 HGNC ENSG00000183891 tier1 - - 78 0 0.00 133 45 25.28 USH2A 0 genome.wustl.edu 37 1 216380660 216380660 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 216380660 216380660 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3271 p.R1091W 1.000 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 - - 53 0 0.00 84 41 32.80 USP31 0 genome.wustl.edu 37 16 23096215 23096215 + Missense_Mutation SNP G G C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 16 23096215 23096215 G C SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.1796 p.S599C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 tier1 - - 225 0 0.00 259 126 32.73 UXS1 0 genome.wustl.edu 37 2 106761735 106761735 + Missense_Mutation SNP G G A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 2 106761735 106761735 G A SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.383 p.T128M 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_3Beta_OHSteriod_DH/Estase pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 tier1 - - 36 0 0.00 55 8 12.70 VGLL1 0 genome.wustl.edu 37 X 135630853 135630853 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b X 135630853 135630853 C T SNP VGLL1 ENST00000370634 human ensembl 74_37 +1 known missense c.320 p.P107L 0.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 tier1 - - 138 0 0.00 71 217 75.35 WARS2 0 genome.wustl.edu 37 1 119619106 119619106 + Missense_Mutation SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 1 119619106 119619106 C T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.215 p.S72N 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 tier1 - - 104 0 0.00 100 76 43.18 WBP11P1 0 genome.wustl.edu 37 18 30092009 30092009 + RNA SNP A A C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 18 30092009 30092009 A C SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 tier1 - - 28 0 0.00 38 11 22.45 WDR49 0 genome.wustl.edu 37 3 167272470 167272470 + Splice_Site SNP C C A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 167272470 167272470 C A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known splice_site c.767+1 e5+1 1.000 - - - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 63 0 0.00 126 50 28.41 ZBBX 0 genome.wustl.edu 37 3 167016178 167016178 + Silent SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 3 167016178 167016178 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1794 p.F598 0.982 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 123 0 0.00 209 56 21.13 ZBTB14 0 genome.wustl.edu 37 18 5292035 5292035 + Missense_Mutation SNP T T A TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 18 5292035 5292035 T A SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known missense c.172 p.S58C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB14 HGNC ENSG00000198081 tier1 - - 112 0 0.00 113 52 31.52 ZC3H13 0 genome.wustl.edu 37 13 46543696 46543696 + Missense_Mutation SNP T T C TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 13 46543696 46543696 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2983 p.K995E 0.992 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 134 0 0.00 166 86 34.13 ZFP30 0 genome.wustl.edu 37 19 38127107 38127107 + Missense_Mutation SNP C C G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 19 38127107 38127107 C G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.335 p.C112S 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 ZFP30 HGNC ENSG00000120784 tier1 - - 92 0 0.00 91 40 30.53 ZNF431 0 genome.wustl.edu 37 19 21324990 21324990 + Splice_Site SNP G G T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 19 21324990 21324990 G T SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known splice_site c.3+1 e1+1 0.026 - - - no_errors ZNF431 HGNC ENSG00000196705 tier1 - - 74 0 0.00 109 42 27.81 ZNF567 0 genome.wustl.edu 37 19 37211000 37211000 + Silent SNP C C T TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 19 37211000 37211000 C T SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known silent c.1374 p.F458 0.805 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 ZNF567 HGNC ENSG00000189042 tier1 - - 88 0 0.00 107 22 17.05 ZNF679 0 genome.wustl.edu 37 7 63726365 63726365 + Missense_Mutation SNP T T G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b 7 63726365 63726365 T G SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.354 p.S118R 0.003 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 ZNF679 HGNC ENSG00000197123 tier1 - - 23 0 0.00 28 12 30.00 ZNF711 0 genome.wustl.edu 37 X 84525768 84525768 + Missense_Mutation SNP A A G TCGA-VQ-A91Q-01A-12D-A410-08 TCGA-VQ-A91Q-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d7795c2-ba8f-4250-9379-6eb2aea33a1e 5e5c25a1-c925-42d7-8b86-4f511cf7526b X 84525768 84525768 A G SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.1244 p.D415G 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 - - 13 0 0.00 5 13 72.22