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 WDR47 0 genome.wustl.edu 37 1 109514146 109514146 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 109514146 109514146 T A SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.2690 p.D897V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 114 0 0 108 29 21.1679 LCE2A 0 genome.wustl.edu 37 1 152671534 152671534 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 152671534 152671534 G A SNP LCE2A ENST00000368779 human ensembl 74_37 +1 known missense c.157 p.G53S 0.677 NULL NULL - no_errors LCE2A HGNC ENSG00000187173 179 0 0 204 51 20 TRIM46 0 genome.wustl.edu 37 1 155154567 155154567 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 155154567 155154567 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.1828 p.G610R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 33 0 0 52 8 13.3333 GON4L 0 genome.wustl.edu 37 1 155785747 155785747 + RNA SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 155785747 155785747 T C SNP GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GON4L HGNC ENSG00000116580 18 0 0 16 7 30.4348 KCNT2 0 genome.wustl.edu 37 1 196300297 196300297 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 196300297 196300297 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2092 p.R698G 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 243 0 0 236 51 17.77 CRB1 0 genome.wustl.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 197390846 197390846 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1888 p.F630V 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 224 0 0 298 18 5.6962 OBSCN 0 genome.wustl.edu 37 1 228404777 228404777 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 228404777 228404777 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2441 p.P814L 0.004 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 64 0 0 47 12 20.339 PLCH2 0 genome.wustl.edu 37 1 2415915 2415915 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 2415915 2415915 C T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.674 p.T225M 0.991 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 54 0 0 16 11 40.7407 C1orf101 0 genome.wustl.edu 37 1 244735822 244735822 + Nonsense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 244735822 244735822 T A SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known nonsense c.1245 p.Y415* 0.995 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 87 0 0 70 21 23.0769 GPATCH3 0 genome.wustl.edu 37 1 27223867 27223867 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 27223867 27223867 A G SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known silent c.801 p.D267 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 314 0 0 284 23 7.49186 PTPRU 0 genome.wustl.edu 37 1 29644433 29644433 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 29644433 29644433 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3717 p.D1239 0.622 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 62 0 0 41 7 14.5833 DIRAS3 0 genome.wustl.edu 37 1 68512741 68512741 + Nonsense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 68512741 68512741 G T SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known nonsense c.240 p.C80* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 193 1 0.515464 151 56 27.0531 SORCS3 0 genome.wustl.edu 37 10 106959784 106959784 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 106959784 106959784 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.2037 p.S679 0.916 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 135 1 0.735294 189 11 5.5 PTCHD3 0 genome.wustl.edu 37 10 27687305 27687305 + Nonsense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 27687305 27687305 G C SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known nonsense c.2222 p.S741* 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 62 0 0 83 5 5.68182 C10orf71 0 genome.wustl.edu 37 10 50531052 50531052 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 50531052 50531052 G T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.462 p.E154D 0.217 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 82 0 0 63 13 17.1053 ZSWIM8 0 genome.wustl.edu 37 10 75552483 75552483 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 75552483 75552483 A G SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.2186 p.Y729C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 83 0 0 91 30 24.7934 PLCE1 0 genome.wustl.edu 37 10 96025643 96025643 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 96025643 96025643 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.4209 p.I1403 0.999 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 143 0 0 172 18 9.47368 MUC5B 0 genome.wustl.edu 37 11 1261524 1261524 + Missense_Mutation SNP A A T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 1261524 1261524 A T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.3898 p.R1300W 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 72 0 0 67 26 27.957 COPB1 0 genome.wustl.edu 37 11 14515257 14515257 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 14515257 14515257 C T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.422 p.R141H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 124 0 0 183 10 5.18135 ATHL1 0 genome.wustl.edu 37 11 290921 290921 + Silent SNP C C G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 290921 290921 C G SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known silent c.714 p.L238 1.000 superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 103 0 0 94 6 6 OR52K2 0 genome.wustl.edu 37 11 4471139 4471139 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 4471139 4471139 G A SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known silent c.570 p.A190 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 148 0 0 184 39 17.4888 OR5T1 0 genome.wustl.edu 37 11 56043937 56043937 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 56043937 56043937 A C SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.823 p.S275R 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 296 1 0.3367 384 25 6.11247 SLC22A12 0 genome.wustl.edu 37 11 64359339 64359339 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 64359339 64359339 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.311 p.T104M 0.009 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 53 0 0 49 19 27.9412 FAT3 0 genome.wustl.edu 37 11 92086909 92086909 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 92086909 92086909 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1631 p.R544K 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 98 0 0 109 46 29.6774 MED17 0 genome.wustl.edu 37 11 93527121 93527121 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 11 93527121 93527121 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.779 p.S260L 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 164 0 0 188 32 14.5455 RASSF8 0 genome.wustl.edu 37 12 26217702 26217702 + Silent SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 26217702 26217702 G T SNP RASSF8 ENST00000282884 human ensembl 74_37 +1 known silent c.375 p.P125 0.483 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 155 0 0 179 15 7.73196 FAR2 0 genome.wustl.edu 37 12 29423406 29423406 + Nonsense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 29423406 29423406 T G SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known nonsense c.24 p.Y8* 0.691 NULL pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 70 0 0 52 48 48 CNTN1 0 genome.wustl.edu 37 12 41327301 41327301 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 41327301 41327301 T C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.742 p.F248L 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 121 0 0 137 11 7.43243 SLC38A1 0 genome.wustl.edu 37 12 46598091 46598091 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 46598091 46598091 T G SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.815 p.N272T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 263 0 0 270 31 10.299 ESPL1 0 genome.wustl.edu 37 12 53663425 53663425 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 53663425 53663425 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.699 p.V233 0.041 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 436 0 0 341 61 15.1741 BAZ2A 0 genome.wustl.edu 37 12 57005592 57005592 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 57005592 57005592 T C SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.1580 p.E527G 0.954 superfamily_DNA-bd_dom pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 16 0 0 20 3 13.0435 PLXNC1 0 genome.wustl.edu 37 12 94645229 94645229 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 94645229 94645229 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.2806 p.V936I 0.675 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 87 0 0 60 4 6.25 CCDC38 0 genome.wustl.edu 37 12 96330276 96330276 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 12 96330276 96330276 A G SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known silent c.12 p.N4 0.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 29 0 0 19 11 36.6667 SPRYD7 0 genome.wustl.edu 37 13 50502102 50502102 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 13 50502102 50502102 T C SNP SPRYD7 ENST00000361840 human ensembl 74_37 -1 known missense c.343 p.K115E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 144 0 0 176 10 5.37634 TXNDC16 0 genome.wustl.edu 37 14 52981665 52981665 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 14 52981665 52981665 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.538 p.A180T 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 201 0 0 137 97 41.453 AKAP5 0 genome.wustl.edu 37 14 64935787 64935787 + Silent SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 14 64935787 64935787 G C SNP AKAP5 ENST00000320636 human ensembl 74_37 +1 known silent c.675 p.T225 0.018 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 201 0 0 167 39 18.932 DNM1P47 0 genome.wustl.edu 37 15 102294133 102294133 + RNA SNP C C G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 15 102294133 102294133 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 9 0 0 5 7 58.3333 MEIS2 0 genome.wustl.edu 37 15 37184392 37184392 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 15 37184392 37184392 C T SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.1416 p.M472I 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 433 1 0.230415 444 32 6.72269 DLL4 0 genome.wustl.edu 37 15 41228590 41228590 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 15 41228590 41228590 G T SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known missense c.1405 p.G469C 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 25 0 0 26 3 10.3448 ISL2 0 genome.wustl.edu 37 15 76632641 76632641 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 15 76632641 76632641 C T SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known missense c.536 p.A179V 0.989 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 34 0 0 17 10 37.037 RMI2 0 genome.wustl.edu 37 16 11444592 11444592 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 11444592 11444592 T C SNP RMI2 ENST00000312499 human ensembl 74_37 +1 known missense c.389 p.I130T 0.736 NULL NULL - no_errors RMI2 HGNC ENSG00000175643 189 0 0 201 19 8.63636 TPSG1 0 genome.wustl.edu 37 16 1272676 1272676 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 1272676 1272676 C T SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known missense c.487 p.G163S 0.939 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 333 0 0 267 52 16.3009 TPSD1 0 genome.wustl.edu 37 16 1307050 1307050 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 1307050 1307050 C T SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known silent c.507 p.D169 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 22 0 0 16 6 27.2727 ATXN2L 0 genome.wustl.edu 37 16 28837136 28837136 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 28837136 28837136 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.439 p.G147S 1.000 superfamily_LSM_dom pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 117 0 0 112 45 28.6624 ADCY7 0 genome.wustl.edu 37 16 50345962 50345962 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 50345962 50345962 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2464 p.R822C 1.000 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 136 0 0 100 36 26.4706 LINC00922 0 genome.wustl.edu 37 16 65319250 65319250 + RNA SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 65319250 65319250 G A SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00922 HGNC ENSG00000261742 44 0 0 51 9 15 USP7 0 genome.wustl.edu 37 16 9017167 9017167 + Silent SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 16 9017167 9017167 T C SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.288 p.P96 0.251 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 187 0 0 100 106 51.4563 FAM83G 0 genome.wustl.edu 37 17 18907189 18907189 + Nonsense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 18907189 18907189 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known nonsense c.166 p.R56* 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 70 0 0 50 29 36.7089 KRTAP4-3 0 genome.wustl.edu 37 17 39324138 39324138 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 39324138 39324138 C A SNP KRTAP4-3 ENST00000391356 human ensembl 74_37 -1 known missense c.287 p.R96M 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 27 0 0 263 46 14.8867 KRTAP4-1 0 genome.wustl.edu 37 17 39340975 39340975 + Nonsense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 39340975 39340975 G T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known nonsense c.132 p.C44* 0.978 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 50 0 0 586 48 7.57098 KRTAP4-1 0 genome.wustl.edu 37 17 39340982 39340982 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 39340982 39340982 G T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known missense c.125 p.S42Y 0.939 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 53 0 0 583 49 7.75316 KRT13 0 genome.wustl.edu 37 17 39659306 39659306 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 39659306 39659306 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known silent c.780 p.V260 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 613 0 0 4894 331 6.33493 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58089005 58089005 + RNA SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 58089005 58089005 C T SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 279 0 0 187 33 15 RPL12P38 0 genome.wustl.edu 37 17 58512644 58512644 + RNA SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 58512644 58512644 T C SNP RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL12P38 HGNC ENSG00000213228 46 0 0 47 4 7.84314 TP53 0 genome.wustl.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 7577534 7577534 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.747 p.R249S 0.977 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 91 0 0 40 37 48.0519 WDR16 0 genome.wustl.edu 37 17 9503482 9503482 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 9503482 9503482 G A SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known silent c.765 p.A255 0.277 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 253 0 0 178 79 30.7393 C18orf8 0 genome.wustl.edu 37 18 21098916 21098916 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 18 21098916 21098916 C T SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.716 p.A239V 1.000 NULL pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 129 0 0 131 19 12.6667 KEAP1 0 genome.wustl.edu 37 19 10610425 10610425 + Silent SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 10610425 10610425 G T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.285 p.A95 0.972 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 65 0 0 59 18 23.3766 ELL 0 genome.wustl.edu 37 19 18555639 18555639 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 18555639 18555639 A G SNP ELL ENST00000262809 human ensembl 74_37 -1 known missense c.1789 p.Y597H 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 129 0 0 117 28 19.3103 LGALS16 0 genome.wustl.edu 37 19 40151153 40151153 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 40151153 40151153 G A SNP LGALS16 ENST00000392051 human ensembl 74_37 +1 known missense c.422 p.R141Q 0.002 superfamily_ConA-like_lec_gl_sf pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS16 HGNC ENSG00000249861 9 0 0 5 3 37.5 CHAF1A 0 genome.wustl.edu 37 19 4433127 4433127 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 4433127 4433127 G A SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2264 p.R755Q 0.901 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 73 0 0 43 5 10.4167 ZNF611 0 genome.wustl.edu 37 19 53209605 53209605 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 53209605 53209605 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.703 p.K235E 0.001 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 ZNF611 HGNC ENSG00000213020 233 0 0 243 17 6.53846 ZNF611 0 genome.wustl.edu 37 19 53209635 53209635 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 53209635 53209635 G A SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.673 p.H225Y 0.451 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 222 0 0 243 15 5.81395 ZNF761 0 genome.wustl.edu 37 19 53958797 53958797 + RNA SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 53958797 53958797 C T SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF761 HGNC ENSG00000160336 269 0 0 292 17 5.50162 LILRB1 0 genome.wustl.edu 37 19 55148076 55148076 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 55148076 55148076 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.1785 p.A595 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 38 0 0 22 12 35.2941 POLRMT 0 genome.wustl.edu 37 19 621655 621655 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 19 621655 621655 C T SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known silent c.2043 p.Q681 0.722 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 17 0 0 15 4 21.0526 PTPN18 0 genome.wustl.edu 37 2 131128152 131128152 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 131128152 131128152 G A SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.712 p.V238I 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 132 0 0 141 11 7.23684 PLEKHB2 0 genome.wustl.edu 37 2 131904309 131904309 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 131904309 131904309 C T SNP PLEKHB2 ENST00000403716 human ensembl 74_37 +1 known missense c.632 p.T211M 0.995 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 391 0 0 316 83 20.802 NR4A2 0 genome.wustl.edu 37 2 157185018 157185018 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 157185018 157185018 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.925 p.V309M 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 117 0 0 110 9 7.56303 FN1 0 genome.wustl.edu 37 2 216232683 216232683 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 216232683 216232683 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.6921 p.A2307 0.957 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 98 0 0 104 7 6.30631 ATG9A 0 genome.wustl.edu 37 2 220091655 220091655 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 220091655 220091655 C T SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.148 p.V50I 1.000 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 104 0 0 73 15 17.0455 NYAP2 0 genome.wustl.edu 37 2 226447571 226447571 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 226447571 226447571 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1438 p.V480M 0.096 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 68 0 0 57 11 16.1765 NCOA1 0 genome.wustl.edu 37 2 24964989 24964989 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 24964989 24964989 G C SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3640 p.G1214R 1.000 pfam_DUF1518,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 85 0 0 121 9 6.92308 RAB10 0 genome.wustl.edu 37 2 26350778 26350778 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 26350778 26350778 C T SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known silent c.477 p.I159 0.997 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,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 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 RAB10 HGNC ENSG00000084733 163 0 0 232 40 14.7059 OTOF 0 genome.wustl.edu 37 2 26695389 26695389 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 26695389 26695389 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3862 p.A1288T 0.977 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 124 0 0 80 39 32.7731 ALMS1 0 genome.wustl.edu 37 2 73680445 73680445 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 73680445 73680445 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.6788 p.T2263I 0.130 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 91 0 0 151 9 5.625 SNPH 0 genome.wustl.edu 37 20 1281207 1281207 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 20 1281207 1281207 C T SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 66 0 0 71 13 15.4762 SNORD110 0 genome.wustl.edu 37 20 2634917 2634917 + RNA SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 20 2634917 2634917 C A SNP SNORD110 ENST00000408189 human ensembl 74_37 +1 known rna NULL NULL 0.125 - - - no_errors SNORD110 HGNC ENSG00000221116 165 0 0 195 76 28.0443 CHD6 0 genome.wustl.edu 37 20 40045389 40045389 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 20 40045389 40045389 A C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6325 p.L2109V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 36 0 0 71 19 21.1111 KCNQ2 0 genome.wustl.edu 37 20 62038567 62038567 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 20 62038567 62038567 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.2073 p.H691 0.007 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 44 0 0 38 11 22.449 BAGE2 0 genome.wustl.edu 37 21 11098863 11098863 + RNA SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 21 11098863 11098863 A G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors BAGE2 HGNC ENSG00000187172 43 0 0 44 5 10.2041 RBM11 0 genome.wustl.edu 37 21 15599341 15599341 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 21 15599341 15599341 C A SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known missense c.573 p.H191Q 0.604 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 501 1 0.199203 404 117 22.4568 PRDM15 0 genome.wustl.edu 37 21 43277345 43277345 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 21 43277345 43277345 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.1323 p.F441 0.952 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 169 0 0 132 8 5.71429 ATP6V1E1 0 genome.wustl.edu 37 22 18082836 18082836 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 22 18082836 18082836 C T SNP ATP6V1E1 ENST00000253413 human ensembl 74_37 -1 known missense c.392 p.R131Q 0.986 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E1 HGNC ENSG00000131100 107 0 0 94 5 5.05051 RPL3 0 genome.wustl.edu 37 22 39714449 39714449 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 22 39714449 39714449 G A SNP RPL3 ENST00000216146 human ensembl 74_37 -1 known missense c.152 p.A51V 1.000 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 76 0 0 53 41 43.617 SBF1 0 genome.wustl.edu 37 22 50904409 50904409 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 22 50904409 50904409 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.992 p.T331M 0.970 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 172 0 0 83 63 43.1507 B4GALT4 0 genome.wustl.edu 37 3 118948741 118948741 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 118948741 118948741 G A SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known missense c.206 p.T69M 0.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 90 0 0 88 48 35.2941 ARGFX 0 genome.wustl.edu 37 3 121305435 121305435 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 121305435 121305435 G T SNP ARGFX ENST00000334384 human ensembl 74_37 +1 known missense c.936 p.L312F 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ARGFX HGNC ENSG00000186103 87 0 0 87 5 5.43478 ALDH1L1 0 genome.wustl.edu 37 3 125854391 125854391 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 125854391 125854391 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1459 p.R487W 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 37 0 0 44 10 18.5185 CP 0 genome.wustl.edu 37 3 148927978 148927978 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 148927978 148927978 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.583 p.G195R 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 164 1 0.606061 246 18 6.81818 SERPINI2 0 genome.wustl.edu 37 3 167183334 167183334 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 167183334 167183334 A C SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known missense c.606 p.N202K 0.746 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 86 0 0 81 29 26.3636 TNFSF10 0 genome.wustl.edu 37 3 172241149 172241149 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 172241149 172241149 C T SNP TNFSF10 ENST00000241261 human ensembl 74_37 -1 known missense c.26 p.G9E 0.004 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 114 0 0 142 12 7.79221 MUC4 0 genome.wustl.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 195505836 195505836 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12615 p.H4205Q 0.981 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 8 0 0 11 5 31.25 SCN11A 0 genome.wustl.edu 37 3 38888949 38888949 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 38888949 38888949 C A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4612 p.A1538S 0.177 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 58 0 0 45 20 30.7692 ERC2 0 genome.wustl.edu 37 3 56114990 56114990 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 56114990 56114990 A C SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1496 p.L499R 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 44 0 0 41 3 6.81818 BANK1 0 genome.wustl.edu 37 4 102783799 102783799 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 4 102783799 102783799 A C SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.741 p.K247N 0.897 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 53 0 0 59 8 11.9403 WDR17 0 genome.wustl.edu 37 4 177084327 177084327 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 4 177084327 177084327 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2945 p.R982H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 121 0 0 81 64 44.1379 CHRNA9 0 genome.wustl.edu 37 4 40356537 40356537 + Nonstop_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 4 40356537 40356537 G T SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known nonstop c.1440 p.*480Y 0.167 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 264 0 0 140 86 38.0531 SLCO4C1 0 genome.wustl.edu 37 5 101583042 101583042 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 101583042 101583042 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.1725 p.A575 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 169 0 0 159 48 23.1884 TSLP 0 genome.wustl.edu 37 5 110409342 110409342 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 110409342 110409342 A G SNP TSLP ENST00000344895 human ensembl 74_37 +1 known missense c.350 p.Q117R 0.768 NULL NULL - no_errors TSLP HGNC ENSG00000145777 173 0 0 161 13 7.47126 NME5 0 genome.wustl.edu 37 5 137454573 137454573 + Silent SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 137454573 137454573 T C SNP NME5 ENST00000265191 human ensembl 74_37 -1 known silent c.489 p.L163 0.901 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 65 0 0 72 9 11.1111 FAM53C 0 genome.wustl.edu 37 5 137680803 137680803 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 137680803 137680803 G C SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.426 p.W142C 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 198 1 0.502513 188 19 9.17874 HSPA9 0 genome.wustl.edu 37 5 137902355 137902355 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 137902355 137902355 G C SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known missense c.932 p.A311G 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 199 0 0 230 15 6.12245 PCDHB12 0 genome.wustl.edu 37 5 140590450 140590450 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 140590450 140590450 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1971 p.T657 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 94 0 0 94 7 6.93069 PCDHB13 0 genome.wustl.edu 37 5 140595078 140595078 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 140595078 140595078 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1383 p.R461 0.007 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 213 0 0 147 68 31.6279 TIMD4 0 genome.wustl.edu 37 5 156381444 156381444 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 156381444 156381444 G A SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known missense c.382 p.R128C 0.001 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 61 0 0 48 16 25 GABRG2 0 genome.wustl.edu 37 5 161530999 161530999 + Silent SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 161530999 161530999 A C SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known silent c.736 p.R246 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 87 0 0 87 9 9.375 NSUN2 0 genome.wustl.edu 37 5 6616908 6616908 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 6616908 6616908 T C SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.953 p.Y318C 0.999 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 113 0 0 117 10 7.87402 COL4A3BP 0 genome.wustl.edu 37 5 74721289 74721289 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 5 74721289 74721289 C A SNP COL4A3BP ENST00000380494 human ensembl 74_37 -1 known missense c.876 p.M292I 1.000 NULL pfam_START_lipid-bd_dom,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd_dom,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd_dom - no_errors COL4A3BP HGNC ENSG00000113163 146 1 0.680272 171 12 6.55738 REPS1 0 genome.wustl.edu 37 6 139251228 139251228 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 6 139251228 139251228 C T SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known silent c.1143 p.G381 0.523 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 88 0 0 85 18 17.4757 HIVEP2 0 genome.wustl.edu 37 6 143093784 143093784 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 6 143093784 143093784 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2092 p.R698W 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 194 0 0 262 21 7.42049 ABT1 0 genome.wustl.edu 37 6 26598746 26598746 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 6 26598746 26598746 G A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.692 p.R231H 0.254 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 75 0 0 75 7 8.53659 HIST1H1B 0 genome.wustl.edu 37 6 27834674 27834674 + Nonsense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 6 27834674 27834674 T A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known nonsense c.634 p.K212* 0.998 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 69 0 0 67 10 12.987 C6orf201 0 genome.wustl.edu 37 6 4099426 4099426 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 6 4099426 4099426 T A SNP C6orf201 ENST00000333388 human ensembl 74_37 +1 known missense c.287 p.V96D 0.984 NULL NULL - no_errors C6orf201 HGNC ENSG00000185689 84 0 0 93 13 12.2642 RELN 0 genome.wustl.edu 37 7 103155636 103155636 + Silent SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 103155636 103155636 A C SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.8115 p.T2705 0.042 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 64 0 0 56 26 31.7073 THSD7A 0 genome.wustl.edu 37 7 11514005 11514005 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 11514005 11514005 T G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2208 p.K736N 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 74 0 0 98 32 24.6154 LRGUK 0 genome.wustl.edu 37 7 133884049 133884049 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 133884049 133884049 G T SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.1623 p.E541D 0.953 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 289 0 0 311 27 7.98817 FAM131B 0 genome.wustl.edu 37 7 143053722 143053722 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 143053722 143053722 G A SNP FAM131B ENST00000443739 human ensembl 74_37 -1 known missense c.1004 p.A335V 0.896 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 348 0 0 400 27 6.32319 KRBA1 0 genome.wustl.edu 37 7 149420837 149420837 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 149420837 149420837 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.785 p.A262V 0.007 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 70 0 0 58 23 28.3951 DPP6 0 genome.wustl.edu 37 7 154667658 154667658 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 154667658 154667658 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.1926 p.E642 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 30 0 0 25 8 24.2424 ZNF733P 0 genome.wustl.edu 37 7 62751991 62751991 + RNA SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 62751991 62751991 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.802 - - - no_errors ZNF733P HGNC ENSG00000185037 101 0 0 94 27 22.314 SEMA3D 0 genome.wustl.edu 37 7 84628757 84628757 + Nonstop_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 84628757 84628757 T C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known nonstop c.2333 p.*778W 1.000 NULL pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 79 0 0 132 8 5.71429 GNGT1 0 genome.wustl.edu 37 7 93540228 93540228 + Nonstop_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 7 93540228 93540228 T C SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known nonstop c.223 p.*75Q 0.992 NULL pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 58 0 0 65 17 20.7317 TRPS1 0 genome.wustl.edu 37 8 116616721 116616721 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 116616721 116616721 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1475 p.S492F 0.998 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 116 0 0 149 8 5.09554 EXT1 0 genome.wustl.edu 37 8 118847770 118847770 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 118847770 118847770 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1077 p.M359I 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 81 0 0 94 20 17.5439 LYPD2 0 genome.wustl.edu 37 8 143832577 143832577 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 143832577 143832577 G A SNP LYPD2 ENST00000359228 human ensembl 74_37 -1 known missense c.70 p.R24C 0.000 smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD2 HGNC ENSG00000197353 153 0 0 167 30 15.2284 CPSF1 0 genome.wustl.edu 37 8 145623313 145623313 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 145623313 145623313 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.1929 p.G643 0.997 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 68 0 0 39 5 11.3636 PI15 0 genome.wustl.edu 37 8 75756215 75756215 + Splice_Site SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 75756215 75756215 G T SNP PI15 ENST00000260113 human ensembl 74_37 +1 known splice_site c.274-1 e2-1 1.000 - - - no_errors PI15 HGNC ENSG00000137558 217 0 0 277 28 9.18033 TMEM64 0 genome.wustl.edu 37 8 91657358 91657358 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 91657358 91657358 A G SNP TMEM64 ENST00000458549 human ensembl 74_37 -1 known missense c.776 p.L259P 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 95 0 0 102 12 10.5263 ZNF462 0 genome.wustl.edu 37 9 109686646 109686646 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 9 109686646 109686646 T G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.453 p.N151K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 113 0 0 91 13 12.5 USP20 0 genome.wustl.edu 37 9 132637711 132637711 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 9 132637711 132637711 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.2171 p.A724V 0.983 smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 80 0 0 72 7 8.86076 IFNW1 0 genome.wustl.edu 37 9 21141013 21141013 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 9 21141013 21141013 C A SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known missense c.557 p.R186I 0.005 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 135 0 0 71 83 53.8961 SPATA31A6 0 genome.wustl.edu 37 9 43626680 43626680 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 9 43626680 43626680 T G SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.2007 p.Q669H 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 217 0 0 171 36 17.3913 ARHGEF6 0 genome.wustl.edu 37 X 135770113 135770113 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a X 135770113 135770113 A C SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1223 p.I408S 0.692 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 93 0 0 111 24 17.7778 MAGEA4 0 genome.wustl.edu 37 X 151092504 151092504 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a X 151092504 151092504 G A SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.368 p.R123H 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 86 0 0 35 98 73.6842 ASMT 0 genome.wustl.edu 37 X 1748789 1748789 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a X 1748789 1748789 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known silent c.519 p.T173 0.996 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 231 0 0 83 100 54.6448 SCNM1 0 genome.wustl.edu 37 1 151139074 151139074 + RNA DEL T T - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 1 151139074 151139074 T - DEL SCNM1 ENST00000471039 human ensembl 74_37 +1 putative rna NULL NULL 0.045 - - - no_errors SCNM1 HGNC ENSG00000163156 17 0 0 23 4 14.8148 MKI67 0 genome.wustl.edu 37 10 129901328 129901329 + Frame_Shift_Del DEL GA GA - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 10 129901328 129901329 GA - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.8776_8775 p.Q2926fs 0.000:0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 331 0 0 290 90 23.6842 PHF12 0 genome.wustl.edu 37 17 27277196 27277198 + In_Frame_Del DEL CTT CTT - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 17 27277196 27277198 CTT - DEL PHF12 ENST00000332830 human ensembl 74_37 -1 known in_frame_del c.135_133 p.K45in_frame_del 1.000:1.000:1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 96 0 0 97 8 7.61905 ELP2 0 genome.wustl.edu 37 18 33713280 33713302 + Splice_Site DEL GTAAGTATTAACCAGATTTTAAA GTAAGTATTAACCAGATTTTAAA - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 GTAAGTATTAACCAGATTTTAAA GTAAGTATTAACCAGATTTTAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 18 33713280 33713302 GTAAGTATTAACCAGATTTTAAA - DEL ELP2 ENST00000358232 human ensembl 74_37 +1 known splice_site_del c.217+1_217+1 e2+1 1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.965:0.101:0.070:0.030:0.001:0.000:0.000:0.000:0.001:0.002:0.001:0.000:0.000:0.000:0.000:0.000 - - - no_errors ELP2 HGNC ENSG00000134759 38 0 0 37 2 5.12821 MKI67IP 0 genome.wustl.edu 37 2 122494398 122494415 + In_Frame_Del DEL GGCCCAGCCGGGCCAGAA GGCCCAGCCGGGCCAGAA - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 GGCCCAGCCGGGCCAGAA GGCCCAGCCGGGCCAGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 2 122494398 122494415 GGCCCAGCCGGGCCAGAA - DEL MKI67IP ENST00000285814 human ensembl 74_37 -1 known in_frame_del c.29_12 p.FSGPAGP4in_frame_delL 0.014:0.012:0.006:0.000:0.000:0.000:0.002:0.000:0.000:0.116:0.162:0.137:0.149:0.130:0.000:0.000:0.000:0.000 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 69 0 0 50 10 16.6667 FAM208A 0 genome.wustl.edu 37 3 56657392 56657392 + Frame_Shift_Del DEL A A - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 3 56657392 56657392 A - DEL FAM208A ENST00000355628 human ensembl 74_37 -1 known frame_shift_del c.4503 p.D1501fs 0.920 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 102 0 0 92 26 22.0339 HPSE 0 genome.wustl.edu 37 4 84230609 84230609 + Frame_Shift_Del DEL A A - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 4 84230609 84230609 A - DEL HPSE ENST00000311412 human ensembl 74_37 -1 known frame_shift_del c.930 p.L311fs 0.994 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 115 0 0 89 12 11.8812 FNTA 0 genome.wustl.edu 37 8 42932460 42932461 + Frame_Shift_Ins INS - - AACACCAC TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a 8 42932460 42932461 - AACACCAC INS FNTA ENST00000302279 human ensembl 74_37 +1 known frame_shift_ins c.735_736 p.G248fs 1.000:1.000 pfscan_Prenyl_trans_a pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 148 0 0 160 11 6.43275