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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val MIR369 0 genome.wustl.edu 37 14 101531999 101531999 + R SNP T T C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 14 101531999 101531999 T C SNP MIR369 ENST00000362155 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR369 HGNC ENSG00000199025 tier1 - - 34 0 0.00 36 4 10.00 60 0 0.00 53 13 19.70 CSNK1D 0 genome.wustl.edu 37 17 80208020 80208020 + R SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 17 80208020 80208020 G A SNP CSNK1D ENST00000578904 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSNK1D HGNC ENSG00000141551 tier1 - - 63 0 0.00 34 11 24.44 51 0 0.00 45 12 21.05 RPH3A 0 genome.wustl.edu 37 12 113327846 113327846 + Silent SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 12 113327846 113327846 C A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known silent c.1581 p.T527 0.998 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 40 0 0.00 47 25 34.72 36 0 0.00 34 25 42.37 PCDHA7 0 genome.wustl.edu 37 5 140215733 140215733 + Missense_Mutation SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 5 140215733 140215733 C A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1765 p.H589N 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 97 0 0.00 116 30 20.55 11 0 0.00 19 8 29.63 TOMM7 0 genome.wustl.edu 37 7 22852686 22852686 + R SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 7 22852686 22852686 C A SNP TOMM7 ENST00000463284 human ensembl 74_37 -1 putative rna NULL NULL 0.465 - - - no_errors TOMM7 HGNC ENSG00000196683 tier1 - - 25 0 0.00 38 5 11.63 65 0 0.00 64 11 14.67 RAB18 0 genome.wustl.edu 37 10 27821508 27821508 + Missense_Mutation SNP G G C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 10 27821508 27821508 G C SNP RAB18 ENST00000356940 human ensembl 74_37 +1 known missense c.259 p.V87L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB18 HGNC ENSG00000099246 tier1 - - 39 0 0.00 50 19 27.54 63 0 0.00 42 11 20.75 OR4D11 0 genome.wustl.edu 37 11 59271507 59271507 + Missense_Mutation SNP T T G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 59271507 59271507 T G SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known missense c.459 p.F153L 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 tier1 - - 71 0 0.00 104 11 9.57 72 1 1.37 63 8 11.27 RBM3 0 genome.wustl.edu 37 X 48434970 48434970 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 48434970 48434970 C T SNP RBM3 ENST00000376755 human ensembl 74_37 +1 known missense c.391 p.R131C 0.600 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM3 HGNC ENSG00000102317 tier1 - - 25 0 0.00 40 10 20.00 106 0 0.00 103 16 13.45 NOTCH3 0 genome.wustl.edu 37 19 15276877 15276877 + Silent SNP A A G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 19 15276877 15276877 A G SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.5388 p.A1796 0.976 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 36 0 0.00 69 10 12.66 83 0 0.00 64 12 15.79 ATP1A3 0 genome.wustl.edu 37 19 42490069 42490069 + Missense_Mutation SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 19 42490069 42490069 C A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.553 p.G185C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 tier1 - - 65 0 0.00 53 33 38.37 52 0 0.00 50 30 37.50 OR4D11 0 genome.wustl.edu 37 11 59271504 59271504 + Silent SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 59271504 59271504 C A SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known silent c.456 p.G152 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 tier1 - - 71 0 0.00 105 10 8.62 75 0 0.00 61 8 11.59 KSR2 0 genome.wustl.edu 37 12 118199247 118199247 + Silent SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 12 118199247 118199247 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.555 p.P185 0.748 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 70 0 0.00 84 49 36.84 22 0 0.00 14 8 36.36 ATRX 0 genome.wustl.edu 37 X 76909659 76909659 + Nonsense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 76909659 76909659 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.4246 p.Q1416* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 19 0 0.00 13 18 58.06 113 0 0.00 70 48 40.68 MED9 0 genome.wustl.edu 37 17 17380342 17380342 + R SNP C C G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 17 17380342 17380342 C G SNP MED9 ENST00000585041 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MED9 HGNC ENSG00000141026 tier1 - - 40 0 0.00 58 9 13.43 22 0 0.00 32 7 17.95 KCNG1 0 genome.wustl.edu 37 20 49626065 49626065 + Nonsense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 20 49626065 49626065 G A SNP KCNG1 ENST00000396017 human ensembl 74_37 -1 known nonsense c.811 p.R271* 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 41 0 0.00 60 14 18.92 67 0 0.00 93 11 10.58 PIM2 0 genome.wustl.edu 37 X 48772492 48772492 + Missense_Mutation SNP G G T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 48772492 48772492 G T SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.400 p.P134T 0.943 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 - - 48 0 0.00 63 23 26.74 54 0 0.00 64 16 20.00 PHC2 0 genome.wustl.edu 37 1 33820033 33820033 + Silent SNP C C G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 1 33820033 33820033 C G SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known silent c.1527 p.T509 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 tier1 - - 68 0 0.00 66 10 13.16 47 0 0.00 38 23 37.70 GPR19 0 genome.wustl.edu 37 12 12815077 12815077 + Nonsense_Mutation SNP G G C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 12 12815077 12815077 G C SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known nonsense c.306 p.Y102* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 tier1 - - 27 0 0.00 43 10 18.87 107 0 0.00 85 15 15.00 TTLL13 0 genome.wustl.edu 37 15 90799414 90799414 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 15 90799414 90799414 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.590 p.R197H 0.975 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 37 0 0.00 42 23 35.38 73 0 0.00 57 24 29.63 CNKSR2 0 genome.wustl.edu 37 X 21627458 21627458 + Missense_Mutation SNP G G T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 21627458 21627458 G T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2415 p.R805S 0.998 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 36 0 0.00 100 16 13.68 33 0 0.00 64 8 11.11 OR10K1 0 genome.wustl.edu 37 1 158435375 158435375 + Silent SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 1 158435375 158435375 G A SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.24 p.V8 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 70 0 0.00 71 12 14.46 25 0 0.00 24 4 14.29 LINGO2 0 genome.wustl.edu 37 9 27949399 27949399 + Missense_Mutation SNP T T A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 9 27949399 27949399 T A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1271 p.E424V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 46 0 0.00 51 21 29.17 77 0 0.00 66 17 20.48 TXNRD1 0 genome.wustl.edu 37 12 104682750 104682750 + Missense_Mutation SNP G G T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 12 104682750 104682750 G T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.346 p.A116S 0.485 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 38 0 0.00 43 10 18.87 81 0 0.00 119 26 17.93 KIF1A 0 genome.wustl.edu 37 2 241697823 241697823 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 2 241697823 241697823 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2536 p.G846R 0.997 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 49 0 0.00 39 23 37.10 22 0 0.00 22 4 15.38 WWP1 0 genome.wustl.edu 37 8 87464902 87464902 + Missense_Mutation SNP A A T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 8 87464902 87464902 A T SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2388 p.E796D 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 tier1 - - 64 0 0.00 62 14 18.42 122 0 0.00 86 19 18.10 ZNF99 0 genome.wustl.edu 37 19 22941446 22941446 + Missense_Mutation SNP T T C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 19 22941446 22941446 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.992 p.E331G 0.880 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 tier1 - - 52 0 0.00 75 15 16.67 5 0 0.00 10 2 16.67 NXF1 0 genome.wustl.edu 37 11 62572871 62572871 + R SNP C C G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 62572871 62572871 C G SNP NXF1 ENST00000526163 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NXF1 HGNC ENSG00000162231 tier1 - - 56 0 0.00 49 28 36.36 25 0 0.00 13 7 35.00 CYLC1 0 genome.wustl.edu 37 X 83128692 83128692 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 83128692 83128692 G A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.976 p.V326I 0.196 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 20 0 0.00 34 10 22.73 49 0 0.00 89 17 16.04 ZBTB46 0 genome.wustl.edu 37 20 62421656 62421656 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 20 62421656 62421656 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.455 p.S152N 0.265 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 40 0 0.00 87 37 29.84 10 0 0.00 25 5 16.67 TTC21A 0 genome.wustl.edu 37 3 39172247 39172247 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 3 39172247 39172247 G A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2399 p.C800Y 0.906 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 25 0 0.00 22 9 29.03 71 0 0.00 39 18 31.58 POU4F2 0 genome.wustl.edu 37 4 147560580 147560580 + Silent SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 4 147560580 147560580 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.288 p.P96 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 43 0 0.00 34 7 17.07 58 0 0.00 35 16 30.77 TET3 0 genome.wustl.edu 37 2 74273485 74273485 + Silent SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 2 74273485 74273485 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.36 p.R12 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 42 0 0.00 56 14 20.00 32 0 0.00 24 8 25.00 LPHN2 0 genome.wustl.edu 37 1 82408662 82408662 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 1 82408662 82408662 G A SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.407 p.C136Y 1.000 pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 69 0 0.00 107 20 15.75 93 1 1.06 79 27 25.47 SFMBT2 0 genome.wustl.edu 37 10 7409806 7409806 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 10 7409806 7409806 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.241 p.E81K 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 30 0 0.00 23 16 41.03 77 0 0.00 44 22 33.33 GIMAP8 0 genome.wustl.edu 37 7 150174547 150174547 + Silent SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 7 150174547 150174547 C T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known silent c.1677 p.Y559 0.009 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 22 0 0.00 47 12 20.34 158 0 0.00 112 23 17.04 LAMB1 0 genome.wustl.edu 37 7 107626774 107626774 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 7 107626774 107626774 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.458 p.S153L 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SRE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 44 0 0.00 63 12 16.00 117 0 0.00 108 26 19.40 ATRX 0 genome.wustl.edu 37 X 76761237 76761237 + R SNP A A C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 76761237 76761237 A C SNP ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 32 0 0.00 41 6 12.77 81 0 0.00 57 11 16.18 OR4A47 0 genome.wustl.edu 37 11 48510419 48510419 + Silent SNP T T A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 48510419 48510419 T A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.75 p.L25 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 tier1 - - 72 0 0.00 47 52 52.53 42 0 0.00 36 32 46.38 MYH9 0 genome.wustl.edu 37 22 36678786 36678786 + Silent SNP T T C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 22 36678786 36678786 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.5811 p.K1937 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 rs139624264 - 64 0 0.00 23 59 71.95 27 0 0.00 15 31 67.39 ATRX 0 genome.wustl.edu 37 X 76855962 76855962 + Missense_Mutation SNP T T A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 76855962 76855962 T A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5638 p.S1880C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 91 0 0.00 87 19 17.92 121 0 0.00 85 24 22.02 CYP2C9 0 genome.wustl.edu 37 10 96731898 96731898 + Missense_Mutation SNP G G T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 10 96731898 96731898 G T SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.857 p.S286I 0.766 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 tier1 - - 85 0 0.00 59 15 20.27 44 0 0.00 28 5 15.15 OR5L1 0 genome.wustl.edu 37 11 55579035 55579035 + Silent SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 55579035 55579035 C T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.93 p.F31 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 92 0 0.00 68 22 24.44 38 0 0.00 24 5 17.24 L1CAM 0 genome.wustl.edu 37 X 153135044 153135044 + Missense_Mutation SNP T T C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 X 153135044 153135044 T C SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1204 p.M402V 0.947 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 - - 65 0 0.00 82 27 24.55 59 0 0.00 69 11 13.75 AOX1 0 genome.wustl.edu 37 2 201521613 201521613 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 2 201521613 201521613 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.3124 p.H1042Y 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 67 0 0.00 41 19 31.67 69 0 0.00 47 13 21.67 FUNDC2P2 0 genome.wustl.edu 37 2 84517888 84517888 + R SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 2 84517888 84517888 G A SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 tier1 - - 38 0 0.00 36 11 23.40 41 0 0.00 25 8 24.24 TULP4 0 genome.wustl.edu 37 6 158924151 158924151 + Silent SNP T T A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 6 158924151 158924151 T A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.3456 p.S1152 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 57 0 0.00 56 16 22.22 85 0 0.00 77 33 29.73 RPL7 0 genome.wustl.edu 37 8 74203808 74203808 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 8 74203808 74203808 C T SNP RPL7 ENST00000352983 human ensembl 74_37 -1 known missense c.517 p.A173T 0.000 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC ENSG00000147604 tier1 - - 55 0 0.00 46 12 20.69 29 0 0.00 22 5 18.52 TP53 0 genome.wustl.edu 37 17 7578211 7578211 + Missense_Mutation SNP C C G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 17 7578211 7578211 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.638 p.R213P 0.935 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 59 0 0.00 23 36 61.02 90 0 0.00 59 58 49.57 CAC1D 0 genome.wustl.edu 37 3 53837530 53837530 + Frame_Shift_Del DEL G G - TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 3 53837530 53837530 G - DEL CAC1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_del c.5576 p.C1859fs 0.908 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CAC1D HGNC ENSG00000157388 tier1 48 0 0.00 25 8 24.24 52 0 0.00 34 18 34.62 SCARF2 0 genome.wustl.edu 37 22 20780112 20780112 + Silent SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 22 20780112 20780112 G A SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known silent c.2151 p.R717 0.100 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 tier1 - - 13 0 0.00 3 9 75.00 12 0 0.00 3 2 40.00 MRGPRX3 0 genome.wustl.edu 37 11 18159293 18159293 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 11 18159293 18159293 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.544 p.A182T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 111 0 0.00 228 22 8.80 51 0 0.00 97 10 9.35 KALRN 0 genome.wustl.edu 37 3 124436186 124436186 + Missense_Mutation SNP C C A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 3 124436186 124436186 C A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8369 p.A2790D 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 18 0 0.00 16 12 42.86 63 0 0.00 56 4 6.67 C9orf72 0 genome.wustl.edu 37 9 27566948 27566948 + Silent SNP T T C TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 9 27566948 27566948 T C SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known silent c.171 p.G57 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 tier1 - - 35 0 0.00 38 4 9.52 98 1 1.01 117 12 9.30 FBXW5 0 genome.wustl.edu 37 9 139835424 139835424 + Missense_Mutation SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 9 139835424 139835424 G A SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.1657 p.R553W 0.110 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 42 0 0.00 74 14 15.91 5 0 0.00 0 0 0.00 PLEKHG6 0 genome.wustl.edu 37 12 6437043 6437043 + Missense_Mutation SNP T T G TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 12 6437043 6437043 T G SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.2294 p.L765R 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 21 0 0.00 30 14 31.82 5 0 0.00 0 1 100.00 TUBB2A 0 genome.wustl.edu 37 6 3155012 3155012 + Silent SNP G G A TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 6 3155012 3155012 G A SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known silent c.423 p.G141 0.001 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 tier1 - - 32 0 0.00 60 7 10.45 6 0 0.00 2 1 33.33 DNM1P47 0 genome.wustl.edu 37 15 102298070 102298070 + R SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 15 102298070 102298070 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs199907203 - 28 0 0.00 10 10 50.00 2 0 0.00 0 0 0.00 ENSG00000215958 0 genome.wustl.edu 37 15 70077755 70077756 + R INS - - TGTGTG TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 15 70077755 70077756 - TGTGTG INS ENSG00000215958 ENST00000401139 human ensembl 74_37 -1 novel rna NULL NULL 0.176:0.181 - - - no_errors AC021818.1 Clone_based_ensembl_gene ENSG00000215958 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LRRC30 0 genome.wustl.edu 37 18 7231238 7231238 + Silent SNP G G T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a097f74-2fe0-4c33-93cc-2ec39b24c839 8eab9939-2bfb-45c0-9a2d-57ea334820f8 18 7231238 7231238 G T SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.102 p.L34 0.693 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 40 0 0.00 46 7 13.21 63 0 0.00 68 2 2.86