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 ACBD6 0 genome.wustl.edu 37 1 180471380 180471380 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 180471380 180471380 C T SNP ACBD6 ENST00000367595 human ensembl 74_37 -1 known missense c.22 p.A8T 0.002 NULL pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt - no_errors ACBD6 HGNC ENSG00000135847 tier1 - - 42 0 0.00 24 4 14.29 71 0 0.00 34 10 22.73 LRRK2 0 genome.wustl.edu 37 12 40692941 40692941 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 40692941 40692941 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.3378 p.L1126 0.879 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 83 0 0.00 116 20 14.71 194 0 0.00 150 19 11.24 DMD 0 genome.wustl.edu 37 X 31200986 31200986 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 X 31200986 31200986 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.9843 p.F3281L 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 71 0 0.00 54 34 38.64 101 0 0.00 49 29 36.71 COLEC12 0 genome.wustl.edu 37 18 346619 346619 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 18 346619 346619 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1003 p.R335C 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 108 0 0.00 195 23 10.55 188 0 0.00 160 28 14.89 TUBB8P7 0 genome.wustl.edu 37 16 90161117 90161117 + R SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 90161117 90161117 G A SNP TUBB8P7 ENST00000563927 human ensembl 74_37 +1 known rna NULL NULL 0.849 - - - no_errors TUBB8P7 HGNC ENSG00000261812 tier1 - - 135 0 0.00 77 26 25.24 33 0 0.00 11 5 31.25 COL4A5 0 genome.wustl.edu 37 X 107924118 107924118 + Missense_Mutation SNP T T A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 X 107924118 107924118 T A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4019 p.M1340K 0.999 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 156 0 0.00 108 55 33.74 194 0 0.00 73 19 20.43 CNOT1 0 genome.wustl.edu 37 16 58568140 58568140 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 58568140 58568140 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.5806 p.L1936 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 95 0 0.00 70 7 9.09 150 0 0.00 58 8 12.12 ENSG00000215346 0 genome.wustl.edu 37 8 10986462 10986462 + Missense_Mutation SNP A A C TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 8 10986462 10986462 A C SNP ENSG00000215346 ENST00000400102 human ensembl 74_37 -1 novel missense c.92 p.L31R 0.036 NULL NULL - no_errors AF131215.5 Clone_based_ensembl_gene ENSG00000215346 tier1 - - 49 0 0.00 34 9 20.93 108 0 0.00 48 18 27.27 PHB2 0 genome.wustl.edu 37 12 7077684 7077684 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 7077684 7077684 G A SNP PHB2 ENST00000399433 human ensembl 74_37 -1 known missense c.367 p.R123C 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 tier1 - - 61 0 0.00 75 16 17.58 131 1 0.75 69 11 13.75 BDH2 0 genome.wustl.edu 37 4 104003299 104003299 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 4 104003299 104003299 G T SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.623 p.T208K 0.949 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 tier1 - - 61 0 0.00 31 33 51.56 106 0 0.00 28 13 31.71 VAX1 0 genome.wustl.edu 37 10 118897354 118897354 + Missense_Mutation SNP C C A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 10 118897354 118897354 C A SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.214 p.D72Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 47 0 0.00 32 23 41.82 51 0 0.00 12 10 45.45 ADCY7 0 genome.wustl.edu 37 16 50342240 50342240 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 50342240 50342240 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1853 p.T618M 0.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 rs148155774 - 60 0 0.00 59 11 15.71 94 0 0.00 47 6 11.32 TMEM117 0 genome.wustl.edu 37 12 44783026 44783026 + R SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 44783026 44783026 A G SNP TMEM117 ENST00000546978 human ensembl 74_37 +1 known rna NULL NULL 0.874 - - - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 35 0 0.00 31 14 31.11 159 0 0.00 67 37 35.24 ENSG00000177699 0 genome.wustl.edu 37 15 79277345 79277345 + R SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 15 79277345 79277345 G A SNP ENSG00000177699 ENST00000316148 human ensembl 74_37 +1 known rna NULL NULL 0.073 - - - no_errors RP11-16K12.1 Clone_based_vega_gene ENSG00000177699 tier1 rs202089658 - 44 0 0.00 44 11 20.00 31 0 0.00 30 4 11.76 WDR27 0 genome.wustl.edu 37 6 170070759 170070759 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 6 170070759 170070759 G A SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known missense c.362 p.S121L 0.787 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 74 0 0.00 65 19 22.62 225 0 0.00 83 24 22.43 LRRC8C 0 genome.wustl.edu 37 1 90180397 90180397 + Nonsense_Mutation SNP C C G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 90180397 90180397 C G SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known nonsense c.2268 p.Y756* 0.969 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 42 0 0.00 26 14 35.00 140 0 0.00 52 35 39.77 HEPHL1 0 genome.wustl.edu 37 11 93806290 93806290 + Silent SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 11 93806290 93806290 A G SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known silent c.1332 p.R444 0.120 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 43 0 0.00 32 6 15.79 150 0 0.00 51 21 29.17 B3GALNT2 0 genome.wustl.edu 37 1 235643459 235643459 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 235643459 235643459 G A SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.562 p.L188F 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 tier1 - - 77 0 0.00 75 28 27.18 191 0 0.00 87 21 19.44 LRRK2 0 genome.wustl.edu 37 12 40693045 40693045 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 40693045 40693045 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3482 p.R1161K 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 117 0 0.00 119 19 13.77 285 0 0.00 183 42 18.67 SETD1B 0 genome.wustl.edu 37 12 122247688 122247688 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 122247688 122247688 G A SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known silent c.837 p.L279 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 151 0 0.00 139 30 17.65 111 0 0.00 75 15 16.67 CHD7 0 genome.wustl.edu 37 8 61654811 61654811 + Missense_Mutation SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 8 61654811 61654811 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.820 p.R274G 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 33 0 0.00 85 10 10.53 207 0 0.00 136 22 13.92 ZNF479 0 genome.wustl.edu 37 7 57188073 57188073 + Missense_Mutation SNP T T C TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 7 57188073 57188073 T C SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1049 p.E350G 1.000 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 ZNF479 HGNC ENSG00000185177 tier1 - - 136 0 0.00 141 29 17.06 66 0 0.00 49 8 14.04 TGM7 0 genome.wustl.edu 37 15 43568678 43568678 + Missense_Mutation SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 15 43568678 43568678 A G SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.2108 p.F703S 0.139 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 - - 61 0 0.00 64 40 38.46 98 0 0.00 42 34 44.74 ENTPD1 0 genome.wustl.edu 37 10 97607265 97607265 + Missense_Mutation SNP C C G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 10 97607265 97607265 C G SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known missense c.912 p.N304K 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 tier1 - - 80 0 0.00 57 21 26.92 225 0 0.00 86 25 22.52 SLC12A3 0 genome.wustl.edu 37 16 56914083 56914083 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 56914083 56914083 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known silent c.1485 p.F495 0.994 pfam_AA-permease/SLC12A_dom,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 238 0 0.00 135 98 42.06 115 0 0.00 42 20 32.26 ZNF268 0 genome.wustl.edu 37 12 133780214 133780214 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 133780214 133780214 G A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.1942 p.A648T 0.001 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 ZNF268 HGNC ENSG00000090612 tier1 - - 62 0 0.00 34 5 12.82 93 0 0.00 27 5 15.62 CHDH 0 genome.wustl.edu 37 3 53857739 53857739 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 3 53857739 53857739 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.297 p.C99 0.710 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 62 0 0.00 30 11 26.83 50 0 0.00 18 8 30.77 C10orf68 0 genome.wustl.edu 37 10 33165274 33165274 + Splice_Site SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 10 33165274 33165274 G T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known splice_site c.2033-1 e22-1 0.040 - - - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 99 0 0.00 27 20 42.55 120 0 0.00 23 9 28.12 CTIF 0 genome.wustl.edu 37 18 46163008 46163008 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 18 46163008 46163008 G A SNP CTIF ENST00000382998 human ensembl 74_37 +1 known silent c.204 p.P68 0.918 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 tier1 - - 85 0 0.00 57 20 25.64 34 0 0.00 16 3 15.79 LRRK2 0 genome.wustl.edu 37 12 40693049 40693049 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 40693049 40693049 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3486 p.M1162I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 110 0 0.00 116 19 14.07 284 0 0.00 177 44 19.91 C8B 0 genome.wustl.edu 37 1 57425757 57425757 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 57425757 57425757 G A SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.185 p.P62L 0.983 superfamily_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 rs151070962 - 65 0 0.00 46 21 30.88 196 0 0.00 83 32 27.83 CLDN2 0 genome.wustl.edu 37 X 106171471 106171471 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 X 106171471 106171471 G A SNP CLDN2 ENST00000336803 human ensembl 74_37 +1 known missense c.13 p.G5S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 tier1 - - 60 0 0.00 42 15 26.32 133 0 0.00 46 21 30.88 CNTP5 0 genome.wustl.edu 37 2 124999855 124999855 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 2 124999855 124999855 C T SNP CNTP5 ENST00000431078 human ensembl 74_37 +1 known missense c.266 p.T89I 0.997 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP5 HGNC ENSG00000155052 tier1 - - 97 0 0.00 59 61 50.41 168 0 0.00 61 93 60.00 SLC25A48 0 genome.wustl.edu 37 5 135188287 135188287 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 5 135188287 135188287 C T SNP SLC25A48 ENST00000462340 human ensembl 74_37 +1 known missense c.157 p.R53C 0.582 NULL NULL - no_errors SLC25A48 HGNC ENSG00000145832 tier1 - - 39 0 0.00 32 10 23.81 157 0 0.00 39 15 27.78 SIPA1L3 0 genome.wustl.edu 37 19 38633272 38633272 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 19 38633272 38633272 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.3455 p.P1152L 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 88 0 0.00 114 83 42.13 116 1 0.85 109 62 36.26 C17orf74 0 genome.wustl.edu 37 17 7330144 7330144 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 17 7330144 7330144 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known silent c.834 p.S278 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 tier1 - - 93 0 0.00 87 20 18.69 48 0 0.00 25 3 10.71 IGSF3 0 genome.wustl.edu 37 1 117146496 117146496 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 117146496 117146496 G T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.1434 p.S478R 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 82 0 0.00 65 21 24.42 26 0 0.00 21 3 12.50 MAST1 0 genome.wustl.edu 37 19 12975906 12975906 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 19 12975906 12975906 C T SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1552 p.L518F 0.997 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 29 0 0.00 42 8 16.00 97 0 0.00 104 13 11.11 ENSG00000166104 0 genome.wustl.edu 37 15 62538270 62538270 + R SNP T T C TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 15 62538270 62538270 T C SNP ENSG00000166104 ENST00000570077 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-7162 miRBase ENSG00000166104 tier1 - - 69 0 0.00 73 8 9.88 50 0 0.00 38 11 22.45 THBS1 0 genome.wustl.edu 37 15 39882082 39882082 + Missense_Mutation SNP A A C TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 15 39882082 39882082 A C SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.2003 p.H668P 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 tier1 - - 80 0 0.00 65 27 29.35 159 1 0.62 75 36 32.43 PSMB9 0 genome.wustl.edu 37 6 32823978 32823978 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 6 32823978 32823978 G T SNP PSMB9 ENST00000374859 human ensembl 74_37 +1 known missense c.124 p.A42S 1.000 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC ENSG00000240065 tier1 - - 127 0 0.00 99 18 15.38 193 1 0.52 112 22 16.42 TMEM132B 0 genome.wustl.edu 37 12 126139120 126139120 + Missense_Mutation SNP C C A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 126139120 126139120 C A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.3101 p.P1034Q 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 49 0 0.00 51 12 19.05 57 0 0.00 14 8 36.36 ASPDH 0 genome.wustl.edu 37 19 51017820 51017820 + R SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 19 51017820 51017820 C T SNP ASPDH ENST00000597030 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASPDH HGNC ENSG00000204653 tier1 - - 20 0 0.00 29 7 19.44 48 0 0.00 42 8 16.00 BRAP 0 genome.wustl.edu 37 12 112110525 112110525 + Silent SNP T T A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 112110525 112110525 T A SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.687 p.I229 0.993 pfam_BRAP2 pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 tier1 - - 64 0 0.00 51 13 20.31 161 0 0.00 71 21 22.83 SGCG 0 genome.wustl.edu 37 13 23853610 23853610 + Silent SNP A A T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 13 23853610 23853610 A T SNP SGCG ENST00000218867 human ensembl 74_37 +1 known silent c.498 p.R166 0.998 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 tier1 - - 62 0 0.00 50 9 15.25 169 0 0.00 72 19 20.88 CAC1C 0 genome.wustl.edu 37 12 2602406 2602406 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 2602406 2602406 G A SNP CAC1C ENST00000399634 human ensembl 74_37 +1 known missense c.967 p.G323R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1C HGNC ENSG00000151067 tier1 - - 55 0 0.00 63 11 14.86 47 0 0.00 23 4 14.81 MKI67 0 genome.wustl.edu 37 10 129907069 129907069 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 10 129907069 129907069 G T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.3035 p.P1012Q 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 30 0 0.00 17 5 22.73 221 1 0.45 75 18 19.35 DF5 0 genome.wustl.edu 37 7 24784186 24784186 + Silent SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 7 24784186 24784186 G A SNP DF5 ENST00000342947 human ensembl 74_37 -1 known silent c.399 p.A133 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors DF5 HGNC ENSG00000105928 tier1 - - 58 0 0.00 46 32 41.03 190 0 0.00 104 73 41.01 MTUS2 0 genome.wustl.edu 37 13 29599892 29599892 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 13 29599892 29599892 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.1087 p.H363Y 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 33 0 0.00 10 3 23.08 146 0 0.00 51 26 33.77 RBFOX1 0 genome.wustl.edu 37 16 7637263 7637263 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 7637263 7637263 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known silent c.558 p.I186 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 tier1 - - 128 0 0.00 122 26 17.57 90 0 0.00 48 9 15.79 ALPK1 0 genome.wustl.edu 37 4 113303659 113303659 + Missense_Mutation SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 4 113303659 113303659 A G SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.227 p.D76G 1.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 tier1 - - 109 0 0.00 108 15 12.20 183 0 0.00 96 24 20.00 EML4 0 genome.wustl.edu 37 2 42522363 42522363 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 2 42522363 42522363 C T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known silent c.1317 p.S439 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 rs201724206 GMAF=0.0005 95 0 0.00 45 22 32.35 174 0 0.00 50 55 51.89 AFAP1L2 0 genome.wustl.edu 37 10 116093020 116093020 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 10 116093020 116093020 C T SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known silent c.180 p.V60 0.972 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 - - 48 0 0.00 22 4 15.38 130 0 0.00 62 17 21.52 COL4A3BP 0 genome.wustl.edu 37 5 74696029 74696029 + Splice_Site SNP C C A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 5 74696029 74696029 C A SNP COL4A3BP ENST00000380494 human ensembl 74_37 -1 known splice_site c.1494+1 e11+1 1.000 - - - no_errors COL4A3BP HGNC ENSG00000113163 tier1 - - 139 0 0.00 71 10 12.20 209 0 0.00 64 15 18.99 C6orf132 0 genome.wustl.edu 37 6 42074123 42074123 + Silent SNP C C A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 6 42074123 42074123 C A SNP C6orf132 ENST00000341865 human ensembl 74_37 -1 putative silent c.1527 p.L509 0.000 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 tier1 - - 12 0 0.00 13 6 31.58 31 0 0.00 15 9 37.50 PTPRF 0 genome.wustl.edu 37 1 44054430 44054430 + Silent SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 44054430 44054430 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.708 p.I236 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 21 0 0.00 20 6 23.08 25 0 0.00 10 2 16.67 NTRK2 0 genome.wustl.edu 37 9 87342760 87342761 + In_Frame_Ins INS - - ATA TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 - - - ATA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 9 87342760 87342761 - ATA INS NTRK2 ENST00000277120 human ensembl 74_37 +1 known in_frame_ins c.1045_1046 p.351in_frame_insN 1.000:1.000 pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 tier1 56 0 0.00 39 15 27.78 258 0 0.00 116 37 24.18 SAMD9 0 genome.wustl.edu 37 7 92731597 92731598 + Frame_Shift_Ins INS - - A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 7 92731597 92731598 - A INS SAMD9 ENST00000379958 human ensembl 74_37 -1 known frame_shift_ins c.3814_3813 p.D1271fs 1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 82 0 0.00 68 16 19.05 153 0 0.00 70 22 23.91 ZNF534 0 genome.wustl.edu 37 19 52941698 52941698 + Missense_Mutation SNP A A G TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 19 52941698 52941698 A G SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.1024 p.K342E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 tier1 - - 66 0 0.00 95 10 9.43 136 0 0.00 74 4 5.13 LRRK2 0 genome.wustl.edu 37 12 40692910 40692910 + Splice_Site SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 40692910 40692910 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known splice_site c.3348-1 e25-1 1.000 - - - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 70 0 0.00 88 15 14.56 165 0 0.00 123 13 9.49 MYH1 0 genome.wustl.edu 37 17 10411236 10411236 + Silent SNP A A T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 17 10411236 10411236 A T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known silent c.1935 p.G645 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_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 MYH1 HGNC ENSG00000109061 tier1 - - 147 0 0.00 237 37 13.45 108 1 0.92 116 10 7.94 KLHL22 0 genome.wustl.edu 37 22 20825717 20825717 + Missense_Mutation SNP G G T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 22 20825717 20825717 G T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.313 p.L105I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 tier1 - - 66 0 0.00 77 9 10.47 131 0 0.00 135 11 7.53 SLC52A2 0 genome.wustl.edu 37 8 145583332 145583332 + Frame_Shift_Del DEL G G - TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 8 145583332 145583332 G - DEL SLC52A2 ENST00000329994 human ensembl 74_37 +1 known frame_shift_del c.180 p.G61fs 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 tier1 57 0 0.00 54 10 15.62 92 0 0.00 53 4 7.02 MAP3K5 0 genome.wustl.edu 37 6 136934374 136934374 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 6 136934374 136934374 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2299 p.R767C 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC ENSG00000197442 tier1 - - 99 0 0.00 100 11 9.91 200 2 0.99 113 8 6.56 SPTBN2 0 genome.wustl.edu 37 11 66460047 66460047 + Missense_Mutation SNP G G A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 11 66460047 66460047 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5150 p.A1717V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 24 0 0.00 12 21 61.76 28 1 3.45 14 20 58.82 FAM230A 0 genome.wustl.edu 37 22 20710005 20710005 + Silent SNP C C A TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 22 20710005 20710005 C A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.1737 p.P579 0.114 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 47 0 0.00 45 12 21.05 6 0 0.00 2 1 33.33 LCMT2 0 genome.wustl.edu 37 15 43622562 43622562 + Silent SNP A A T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 15 43622562 43622562 A T SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known silent c.126 p.V42 0.003 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 tier1 - - 39 0 0.00 33 8 19.05 6 0 0.00 5 0 0.00 METTL13 0 genome.wustl.edu 37 1 171753532 171753532 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 1 171753532 171753532 C T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.806 p.S269F 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 51 0 0.00 34 10 22.73 17 0 0.00 9 0 0.00 SLC12A4 0 genome.wustl.edu 37 16 67981265 67981265 + Missense_Mutation SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 16 67981265 67981265 C T SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.2047 p.E683K 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 12 0 0.00 9 4 30.77 16 0 0.00 6 0 0.00 ENSG00000272231 0 genome.wustl.edu 37 12 74293700 74293709 + R DEL ACACACACAC ACACACACAC - TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 ACACACACAC ACACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 12 74293700 74293709 ACACACACAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.011:0.011:0.017:0.021:0.026:0.029:0.033:0.036:0.039:0.041 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LRRC16A 0 genome.wustl.edu 37 6 25279425 25279447 + R DEL CGGAGGCCGGCCTCGCACCGGTG CGGAGGCCGGCCTCGCACCGGTG - TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 CGGAGGCCGGCCTCGCACCGGTG CGGAGGCCGGCCTCGCACCGGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 6 25279425 25279447 CGGAGGCCGGCCTCGCACCGGTG - DEL LRRC16A ENST00000461945 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.067:0.543:0.412:0.391:0.373:0.090:0.001:0.000:0.000:0.001:0.001:0.000:0.001:0.002:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.021 - - - no_errors LRRC16A HGNC ENSG00000079691 tier1 2 0 0.00 0 0 0.00 2 0 0.00 0 0 0.00 RCVRN 0 genome.wustl.edu 37 17 9801318 9801318 + R SNP C C T TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 17 9801318 9801318 C T SNP RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 - - 33 0 0.00 26 9 25.71 0 0 0.00 0 0 0.00 ASTN2 0 genome.wustl.edu 37 9 119495717 119495717 + Frame_Shift_Del DEL C C - TCGA-X6-A8C3-01A-11D-A36J-09 TCGA-X6-A8C3-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0106ac31-330d-4d39-b9d4-3d3e84e20d39 f855dc78-d931-4312-8cb7-5f7187895b37 9 119495717 119495717 C - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known frame_shift_del c.2482 p.V828fs 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 46 0 0.00 58 9 13.43 37 0 0.00 21 2 8.70