Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AGBL5 0 genome.wustl.edu 37 2 27282091 27282091 + Missense_Mutation SNP G G C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 2 27282091 27282091 G C SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.1908 p.L636F 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 250 0 0.00 260 26 9.09 ALOX15 0 genome.wustl.edu 37 17 4542894 4542894 + Silent SNP A A G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 4542894 4542894 A G SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known silent c.234 p.Y78 0.465 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 31 0 0.00 31 6 16.22 ANKRD35 0 genome.wustl.edu 37 1 145562089 145562089 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 145562089 145562089 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.1777 p.G593R 0.797 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 89 0 0.00 82 16 16.33 ARMCX2 0 genome.wustl.edu 37 X 100911184 100911184 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f X 100911184 100911184 C T SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1391 p.R464Q 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 tier1 - - 135 0 0.00 69 89 56.33 CDC42BPA 0 genome.wustl.edu 37 1 227182042 227182042 + Frame_Shift_Del DEL G G - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 227182042 227182042 G - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_del c.5273 p.P1758fs 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 28 0 0.00 25 2 7.41 CNTNAP4 0 genome.wustl.edu 37 16 76389352 76389352 + Missense_Mutation SNP A A G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 16 76389352 76389352 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.331 p.M111V 1.000 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 CNTNAP4 HGNC ENSG00000152910 tier1 - - 140 0 0.00 99 27 21.26 DNAH9 0 genome.wustl.edu 37 17 11837345 11837345 + Missense_Mutation SNP G G C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 11837345 11837345 G C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.12446 p.G4149A 0.987 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 103 0 0.00 65 14 17.72 DSCAML1 0 genome.wustl.edu 37 11 117306455 117306455 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 11 117306455 117306455 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4961 p.T1654I 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 84 0 0.00 71 11 13.41 DYRK2 0 genome.wustl.edu 37 12 68050889 68050889 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 12 68050889 68050889 G A SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.202 p.G68S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK2 HGNC ENSG00000127334 tier1 - - 65 0 0.00 71 12 14.29 ERI1 0 genome.wustl.edu 37 8 8877957 8877957 + Missense_Mutation SNP T T C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 8 8877957 8877957 T C SNP ERI1 ENST00000250263 human ensembl 74_37 +1 known missense c.790 p.Y264H 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 tier1 - - 52 0 0.00 61 7 10.29 F13B 0 genome.wustl.edu 37 1 197031090 197031090 + Missense_Mutation SNP G G C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 197031090 197031090 G C SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.275 p.T92S 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 tier1 - - 56 0 0.00 42 7 14.29 FAM134A 0 genome.wustl.edu 37 2 220045419 220045419 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 2 220045419 220045419 G A SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.583 p.A195T 0.984 pfam_Reticulon pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 tier1 - - 301 0 0.00 237 51 17.65 FLII 0 genome.wustl.edu 37 17 18155351 18155351 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 18155351 18155351 G A SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.1208 p.A403V 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 tier1 - - 132 0 0.00 84 21 20.00 GAB4 0 genome.wustl.edu 37 22 17473053 17473053 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 22 17473053 17473053 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.188 p.R63H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 175 0 0.00 139 40 22.35 GFPT2 0 genome.wustl.edu 37 5 179765564 179765564 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 5 179765564 179765564 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.44 p.T15M 0.997 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 45 0 0.00 30 9 23.08 GRIN2A 0 genome.wustl.edu 37 16 10032264 10032264 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 16 10032264 10032264 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.559 p.V187I 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 108 0 0.00 73 14 15.91 HERC5 0 genome.wustl.edu 37 4 89410411 89410411 + Missense_Mutation SNP G G T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 4 89410411 89410411 G T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2057 p.R686I 1.000 superfamily_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 tier1 - - 124 0 0.00 143 20 12.27 HGF 0 genome.wustl.edu 37 7 81374361 81374361 + Missense_Mutation SNP C C G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 7 81374361 81374361 C G SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.701 p.R234P 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 78 0 0.00 82 10 10.87 INTS7 0 genome.wustl.edu 37 1 212190316 212190316 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 212190316 212190316 G A SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known missense c.274 p.H92Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 tier1 - - 136 0 0.00 118 24 16.90 ITGAV 0 genome.wustl.edu 37 2 187521024 187521024 + Nonsense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 2 187521024 187521024 C T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known nonsense c.1615 p.R539* 0.999 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 - - 172 0 0.00 88 38 29.92 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 88388 88388 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f GL000209.1 88388 88388 C T SNP KIR2DL2 ENST00000391731 human ensembl 74_37 +1 known missense c.148 p.R50C NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 - - 71 0 0.00 51 17 24.64 LLGL2 0 genome.wustl.edu 37 17 73569677 73569677 + Silent SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 73569677 73569677 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.2841 p.N947 0.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 65 0 0.00 53 12 18.18 LRRC37A4P 0 genome.wustl.edu 37 17 43591861 43591861 + RNA SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 43591861 43591861 G A SNP LRRC37A4P ENST00000579913 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors LRRC37A4P HGNC ENSG00000214425 tier1 rs199946580 - 21 0 0.00 18 4 18.18 MATN1 0 genome.wustl.edu 37 1 31189635 31189635 + Splice_Site SNP A A G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 31189635 31189635 A G SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known splice_site c.790+2 e4+2 1.000 - - - no_errors MATN1 HGNC ENSG00000162510 tier1 - - 41 0 0.00 26 6 18.75 MED15 0 genome.wustl.edu 37 22 20922844 20922844 + Nonsense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 22 20922844 20922844 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known nonsense c.1078 p.Q360* 0.991 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 - - 39 0 0.00 28 7 20.00 MEX3B 0 genome.wustl.edu 37 15 82336140 82336140 + Frame_Shift_Del DEL G G - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 15 82336140 82336140 G - DEL MEX3B ENST00000329713 human ensembl 74_37 -1 known frame_shift_del c.1071 p.E358fs 0.008 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 tier1 67 0 0.00 54 12 18.18 MLLT11 0 genome.wustl.edu 37 1 151039754 151039754 + Silent SNP C C A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 151039754 151039754 C A SNP MLLT11 ENST00000368921 human ensembl 74_37 +1 known silent c.54 p.P18 0.998 NULL NULL - no_errors MLLT11 HGNC ENSG00000213190 tier1 - - 130 0 0.00 95 22 18.80 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 tier1 33 0 0.00 21 2 8.70 NCAPG2 0 genome.wustl.edu 37 7 158448978 158448978 + Missense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 7 158448978 158448978 G A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2362 p.L788F 0.996 pfam_Condensin2_G2 pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 100 0 0.00 99 16 13.91 NKAPL 0 genome.wustl.edu 37 6 28227901 28227901 + Nonsense_Mutation SNP C C G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 6 28227901 28227901 C G SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known nonsense c.752 p.S251* 1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 37 0 0.00 24 5 17.24 OR52K1 0 genome.wustl.edu 37 11 4511001 4511001 + Missense_Mutation SNP C C G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 11 4511001 4511001 C G SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.871 p.P291A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 tier1 - - 189 0 0.00 149 34 18.58 OR8A1 0 genome.wustl.edu 37 11 124440326 124440326 + Missense_Mutation SNP T T G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 11 124440326 124440326 T G SNP OR8A1 ENST00000284287 human ensembl 74_37 +1 known missense c.362 p.F121C 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8A1 HGNC ENSG00000196119 tier1 - - 78 0 0.00 52 18 25.71 PCDHB14 0 genome.wustl.edu 37 5 140603486 140603486 + Nonsense_Mutation SNP G G T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 5 140603486 140603486 G T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known nonsense c.409 p.E137* 0.460 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 106 0 0.00 108 17 13.60 PMS2P3 0 genome.wustl.edu 37 7 75145475 75145475 + RNA SNP C C G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 7 75145475 75145475 C G SNP PMS2P3 ENST00000394921 human ensembl 74_37 -1 known rna NULL NULL 0.713 - - - no_errors PMS2P3 HGNC ENSG00000127957 tier1 - - 78 0 0.00 67 11 14.10 PTGER3 0 genome.wustl.edu 37 1 71512621 71512621 + Nonsense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 71512621 71512621 G A SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known nonsense c.640 p.R214* 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_EP3_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 tier1 - - 116 0 0.00 108 14 11.29 QKI 0 genome.wustl.edu 37 6 163876423 163876423 + Missense_Mutation SNP A A C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 6 163876423 163876423 A C SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.255 p.K85N 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 tier1 - - 145 0 0.00 127 28 18.06 RABGAP1 0 genome.wustl.edu 37 9 125748609 125748609 + Silent SNP C C G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 9 125748609 125748609 C G SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known silent c.501 p.A167 0.999 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 - - 182 0 0.00 126 23 15.44 RHOA 0 genome.wustl.edu 37 3 49405969 49405969 + Missense_Mutation SNP A A C TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 3 49405969 49405969 A C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.169 p.L57V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 tier1 - - 64 0 0.00 80 17 17.53 RNA5-8SP2 0 genome.wustl.edu 37 16 33965563 33965563 + RNA SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 16 33965563 33965563 C T SNP RNA5-8SP2 ENST00000363564 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP2 HGNC ENSG00000200434 tier1 - - 64 0 0.00 51 6 10.53 RNF14 0 genome.wustl.edu 37 5 141358326 141358326 + Silent SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 5 141358326 141358326 C T SNP RNF14 ENST00000347642 human ensembl 74_37 +1 known silent c.765 p.I255 1.000 pfscan_Znf_RING pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 tier1 - - 198 0 0.00 188 22 10.48 RYR2 0 genome.wustl.edu 37 1 237659974 237659974 + Frame_Shift_Del DEL G G - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 237659974 237659974 G - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.2119 p.G708fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 105 0 0.00 81 17 17.35 RYR2 0 genome.wustl.edu 37 1 237659980 237659980 + Frame_Shift_Del DEL G G - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 237659980 237659980 G - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.2125 p.E709fs 0.993 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 101 0 0.00 90 18 16.67 SIPA1L3 0 genome.wustl.edu 37 19 38573722 38573722 + Missense_Mutation SNP A A T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 19 38573722 38573722 A T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1517 p.D506V 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 - - 76 0 0.00 51 20 28.17 SLC25A14 0 genome.wustl.edu 37 X 129492768 129492768 + RNA DEL T T - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f X 129492768 129492768 T - DEL SLC25A14 ENST00000464184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 tier1 16 0 0.00 29 4 12.12 SLC26A7 0 genome.wustl.edu 37 8 92406060 92406060 + Silent SNP A A G TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 8 92406060 92406060 A G SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known silent c.1812 p.V604 0.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 134 0 0.00 125 23 15.44 SV2C 0 genome.wustl.edu 37 5 75591722 75591722 + Frame_Shift_Del DEL C C - TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 5 75591722 75591722 C - DEL SV2C ENST00000502798 human ensembl 74_37 +1 known frame_shift_del c.1457 p.T486fs 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 88 0 0.00 79 18 18.56 TEX37 0 genome.wustl.edu 37 2 88825182 88825182 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 2 88825182 88825182 C T SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.20 p.P7L 0.011 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 tier1 - - 234 0 0.00 237 49 17.07 THEMIS 0 genome.wustl.edu 37 6 128134119 128134119 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 6 128134119 128134119 C T SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1667 p.R556H 0.874 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 - - 111 0 0.00 71 28 28.28 TMCC2 0 genome.wustl.edu 37 1 205238131 205238131 + Silent SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 1 205238131 205238131 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.801 p.T267 0.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 tier1 - - 109 0 0.00 84 5 5.62 TMEM154 0 genome.wustl.edu 37 4 153573702 153573702 + Missense_Mutation SNP C C T TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 4 153573702 153573702 C T SNP TMEM154 ENST00000304385 human ensembl 74_37 -1 known missense c.352 p.A118T 0.241 NULL NULL - no_errors TMEM154 HGNC ENSG00000170006 tier1 - - 176 0 0.00 143 24 14.29 TP53 0 genome.wustl.edu 37 17 7578375 7578375 + Silent SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 17 7578375 7578375 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.555 p.S185 0.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 87 0 0.00 64 13 16.46 UAP1L1 0 genome.wustl.edu 37 9 139972985 139972985 + Missense_Mutation SNP C C A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 9 139972985 139972985 C A SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known missense c.526 p.P176T 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 90 0 0.00 80 5 5.88 VPS13C 0 genome.wustl.edu 37 15 62212323 62212323 + Nonsense_Mutation SNP G G A TCGA-ZA-A8F6-01A-23D-A364-08 TCGA-ZA-A8F6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce7e4baa-89af-49a7-ab54-62141e36a0f5 68642cfe-c174-4703-a83b-c8f302502d2f 15 62212323 62212323 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known nonsense c.7420 p.Q2474* 0.997 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 114 0 0.00 99 24 19.51