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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AK5 0 genome.wustl.edu 37 1 77984336 77984336 + Missense_Mutation SNP G G A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 1 77984336 77984336 G A SNP AK5 ENST00000354567 human ensembl 69_37n +1 known missense c.1235 p.R412H 0.761 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 40 0 0.00 66 21 24.14 - - - APOBR 0 genome.wustl.edu 37 16 28506765 28506765 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 16 28506765 28506765 C T SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.403 p.H135Y 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 19 0 0.00 27 58 68.24 - - - ARAF 0 genome.wustl.edu 37 X 47430836 47430836 + Missense_Mutation SNP G G A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea X 47430836 47430836 G A SNP ARAF ENST00000377045 human ensembl 69_37n +1 known missense c.1801 p.A601T 0.983 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ARAF HGNC ENSG00000078061 19 0 0.00 18 11 37.93 - - - BTNL8 0 genome.wustl.edu 37 5 180377494 180377494 + Missense_Mutation SNP G G A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 5 180377494 180377494 G A SNP BTNL8 ENST00000340184 human ensembl 69_37n +1 known missense c.1453 p.E485K 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL8 HGNC ENSG00000113303 13 0 0.00 38 26 40.62 - - - C17orf97 0 genome.wustl.edu 37 17 263622 263622 + Missense_Mutation SNP A A G TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 17 263622 263622 A G SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known missense c.988 p.K330E 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 8 0 0.00 6 8 57.14 - - - C1orf222 0 genome.wustl.edu 37 1 1854530 1854530 + Missense_Mutation SNP A A G TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 1 1854530 1854530 A G SNP C1orf222 ENST00000493964 human ensembl 69_37n -1 putative missense c.2396 p.L799P 1.000 NULL superfamily_PapD-like - no_start_codon C1orf222 HGNC ENSG00000142609 38 0 0.00 29 25 46.30 - - - CENPBD1 0 genome.wustl.edu 37 16 90038321 90038321 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 16 90038321 90038321 C T SNP CENPBD1 ENST00000314994 human ensembl 69_37n -1 known missense c.10 p.E4K 0.005 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 11 0 0.00 2 6 66.67 - - - CNOT1 0 genome.wustl.edu 37 16 58589747 58589747 + Missense_Mutation SNP T T A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 16 58589747 58589747 T A SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.2545 p.N849Y 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 92 0 0.00 101 25 19.84 - - - COL9A3 0 genome.wustl.edu 37 20 61467665 61467665 + Missense_Mutation SNP A A T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 20 61467665 61467665 A T SNP COL9A3 ENST00000343916 human ensembl 69_37n +1 known missense c.1528 p.T510S 0.995 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 33 0 0.00 24 22 47.83 - - - DEPDC5 0 genome.wustl.edu 37 22 32188070 32188070 + Missense_Mutation SNP T T A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 22 32188070 32188070 T A SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.676 p.Y226N 1.000 pfam_DUF3608 pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 120 0 0.00 125 19 13.19 - - - FAM110A 0 genome.wustl.edu 37 20 826097 826097 + Missense_Mutation SNP G G T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 20 826097 826097 G T SNP FAM110A ENST00000246100 human ensembl 69_37n +1 known missense c.650 p.R217I 0.711 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 18 0 0.00 22 5 18.52 - - - FRG2B 0 genome.wustl.edu 37 10 135439803 135439803 + Silent SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 10 135439803 135439803 C T SNP FRG2B ENST00000443774 human ensembl 69_37n -1 known silent c.186 p.S62 0.213 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 9 0 0.00 16 7 30.43 - - - GPANK1 0 genome.wustl.edu 37 6 31631634 31631634 + Missense_Mutation SNP T T A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 6 31631634 31631634 T A SNP GPANK1 ENST00000375893 human ensembl 69_37n -1 known missense c.622 p.N208Y 0.983 pfscan_Ankyrin_rpt-contain_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 63 0 0.00 49 16 24.62 - - - GREB1L 0 genome.wustl.edu 37 18 18983893 18983893 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 18 18983893 18983893 C T SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.770 p.S257L 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 98 0 0.00 232 34 12.78 - - - ILF2 0 genome.wustl.edu 37 1 153635506 153635506 + Missense_Mutation SNP G G T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 1 153635506 153635506 G T SNP ILF2 ENST00000361891 human ensembl 69_37n -1 known missense c.910 p.L304I 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 54 0 0.00 89 51 36.43 - - - LRP1B 0 genome.wustl.edu 37 2 141806577 141806577 + Silent SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 2 141806577 141806577 C T SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.1767 p.E589 0.009 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 98 0 0.00 167 106 38.83 - - - LRRC16B 0 genome.wustl.edu 37 14 24538005 24538005 + Missense_Mutation SNP C C G TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 14 24538005 24538005 C G SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known missense c.3812 p.P1271R 0.390 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 26 0 0.00 54 9 14.29 - - - MAP3K1 0 genome.wustl.edu 37 5 56160644 56160644 + Frame_Shift_Del DEL C C - TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 5 56160644 56160644 C - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.918 p.R307fs 1.000 NULL pfam_Prot_kinase_cat_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_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 52 0 0.00 70 50 41.32 - - - MAP3K1 0 genome.wustl.edu 37 5 56178169 56178169 + Nonsense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 5 56178169 56178169 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.3142 p.Q1048* 1.000 NULL pfam_Prot_kinase_cat_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_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 41 0 0.00 41 25 37.88 - - - PDE1B 0 genome.wustl.edu 37 12 54971012 54971012 + Missense_Mutation SNP T T A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 12 54971012 54971012 T A SNP PDE1B ENST00000243052 human ensembl 69_37n +1 known missense c.1511 p.I504N 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 35 0 0.00 89 19 17.59 - - - PEG3 0 genome.wustl.edu 37 19 57327932 57327932 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 19 57327932 57327932 C T SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.1878 p.M626I 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 77 0 0.00 95 58 37.91 - - - PLXNB3 0 genome.wustl.edu 37 X 153032741 153032741 + Silent SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea X 153032741 153032741 C T SNP PLXNB3 ENST00000538966 human ensembl 69_37n +1 known silent c.528 p.Y176 0.624 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC ENSG00000198753 29 0 0.00 29 15 34.09 - - - PRAMEF4 0 genome.wustl.edu 37 1 12942944 12942944 + Missense_Mutation SNP A A T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 1 12942944 12942944 A T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known missense c.272 p.L91H 0.024 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 80 0 0.00 123 77 38.50 - - - PRPF19 0 genome.wustl.edu 37 11 60668993 60668993 + Missense_Mutation SNP A A C TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 11 60668993 60668993 A C SNP PRPF19 ENST00000227524 human ensembl 69_37n -1 known missense c.545 p.V182G 1.000 NULL pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 66 0 0.00 106 40 27.40 - - - PTGS1 0 genome.wustl.edu 37 9 125154645 125154645 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 9 125154645 125154645 C T SNP PTGS1 ENST00000362012 human ensembl 69_37n +1 known missense c.1622 p.P541L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 37 0 0.00 72 12 14.29 - - - RASGRF2 0 genome.wustl.edu 37 5 80381624 80381624 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 5 80381624 80381624 C T SNP RASGRF2 ENST00000265080 human ensembl 69_37n +1 known missense c.1165 p.P389S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 67 0 0.00 62 47 43.12 - - - RNF212 0 genome.wustl.edu 37 4 1107207 1107207 + Silent SNP T T G TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 4 1107207 1107207 T G SNP RNF212 ENST00000433731 human ensembl 69_37n -1 known silent c.46 p.R16 0.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 13 0 0.00 16 15 48.39 - - - SLC2A4 0 genome.wustl.edu 37 17 7187613 7187613 + Missense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 17 7187613 7187613 C T SNP SLC2A4 ENST00000570783 human ensembl 69_37n +1 known missense c.526 p.P176S 0.986 pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_4,pfscan_MFS_dom - no_errors SLC2A4 HGNC ENSG00000181856 27 0 0.00 31 16 34.04 - - - TG 0 genome.wustl.edu 37 8 133984055 133984055 + Nonsense_Mutation SNP C C T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 8 133984055 133984055 C T SNP TG ENST00000220616 human ensembl 69_37n +1 known nonsense c.5992 p.R1998* 0.182 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 71 0 0.00 207 56 21.21 - - - TMED2 0 genome.wustl.edu 37 12 124081212 124081212 + Missense_Mutation SNP T T A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 12 124081212 124081212 T A SNP TMED2 ENST00000262225 human ensembl 69_37n +1 known missense c.542 p.V181D 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 89 0 0.00 109 71 39.44 - - - ZGPAT 0 genome.wustl.edu 37 20 62366833 62366833 + Silent SNP G G T TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 20 62366833 62366833 G T SNP ZGPAT ENST00000328969 human ensembl 69_37n +1 known silent c.1374 p.R458 0.944 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 17 0 0.00 22 15 40.54 - - - ZNF462 0 genome.wustl.edu 37 9 109771899 109771899 + Silent SNP G G A TCGA-BH-A1F5-01A-12D-A13L-09 TCGA-BH-A1F5-11A-43D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 82121518-98d6-4db6-8be4-74bbe232a9ed 7165c7b4-d552-496f-a2cd-5afe7c99bbea 9 109771899 109771899 G A SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known silent c.7443 p.R2481 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 89 0 0.00 96 95 49.74 - - -