Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val HHIP 0 genome.wustl.edu 37 4 145573925 145573925 + Missense_Mutation SNP T T C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 4 145573925 145573925 T C SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.448 p.Y150H 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 - - 36 0 0.00 18 14 43.75 98 0 0.00 55 47 46.08 KIF21A 0 genome.wustl.edu 37 12 39745740 39745740 + Silent SNP T T C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 39745740 39745740 T C SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known silent c.1512 p.R504 0.766 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 36 0 0.00 27 22 44.90 76 0 0.00 42 33 44.00 ADAMTSL3 0 genome.wustl.edu 37 15 84651157 84651157 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 15 84651157 84651157 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.2777 p.P926L 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 44 0 0.00 44 6 12.00 90 0 0.00 72 16 18.18 RORB 0 genome.wustl.edu 37 9 77249620 77249620 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 9 77249620 77249620 G A SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.200 p.R67K 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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 tier1 - - 51 0 0.00 28 18 39.13 68 0 0.00 69 32 31.68 GDAP2 0 genome.wustl.edu 37 1 118412824 118412824 + R SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 118412824 118412824 C G SNP GDAP2 ENST00000491626 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors GDAP2 HGNC ENSG00000196505 tier1 - - 10 0 0.00 12 5 29.41 74 0 0.00 66 17 20.48 RAB6A 0 genome.wustl.edu 37 11 73441811 73441811 + Missense_Mutation SNP T T A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 73441811 73441811 T A SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.128 p.Q43L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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 RAB6A HGNC ENSG00000175582 tier1 - - 41 0 0.00 25 25 50.00 55 0 0.00 39 27 40.91 KRTAP16-1 0 genome.wustl.edu 37 17 39465423 39465423 + Missense_Mutation SNP G G T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 39465423 39465423 G T SNP KRTAP16-1 ENST00000391352 human ensembl 74_37 -1 known missense c.83 p.P28H 0.559 NULL NULL - no_errors KRTAP16-1 HGNC ENSG00000212657 tier1 - - 57 0 0.00 87 10 10.31 24 0 0.00 39 6 13.33 SLC30A6 0 genome.wustl.edu 37 2 32417472 32417472 + Missense_Mutation SNP A A C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 2 32417472 32417472 A C SNP SLC30A6 ENST00000282587 human ensembl 74_37 +1 known missense c.352 p.I118L 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 tier1 - - 60 0 0.00 25 23 47.92 93 0 0.00 70 38 35.19 FKBP10 0 genome.wustl.edu 37 17 39974736 39974736 + Silent SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 39974736 39974736 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known silent c.684 p.K228 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 45 0 0.00 61 13 17.57 76 0 0.00 98 16 14.04 AQP3 0 genome.wustl.edu 37 9 33443824 33443824 + Missense_Mutation SNP T T C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 9 33443824 33443824 T C SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.175 p.I59V 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 tier1 - - 56 0 0.00 29 12 29.27 89 0 0.00 45 12 21.05 ST6GALC4 0 genome.wustl.edu 37 9 130678404 130678404 + R SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 9 130678404 130678404 G A SNP ST6GALC4 ENST00000479747 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ST6GALC4 HGNC ENSG00000136840 tier1 - - 9 0 0.00 39 15 27.78 138 0 0.00 732 142 16.19 HEPHL1 0 genome.wustl.edu 37 11 93819316 93819316 + Missense_Mutation SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 93819316 93819316 C G SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2041 p.H681D 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 80 0 0.00 27 48 64.00 29 0 0.00 25 25 50.00 APLP1 0 genome.wustl.edu 37 19 36365487 36365487 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 19 36365487 36365487 G A SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1138 p.V380I 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 tier1 - - 35 0 0.00 29 11 27.50 22 0 0.00 14 5 26.32 IL17RC 0 genome.wustl.edu 37 3 9972614 9972614 + Nonsense_Mutation SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 3 9972614 9972614 C A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known nonsense c.1587 p.C529* 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 51 0 0.00 30 10 25.00 99 0 0.00 73 23 23.96 PHLDB1 0 genome.wustl.edu 37 11 118513072 118513072 + Missense_Mutation SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 118513072 118513072 C G SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.2837 p.S946C 0.966 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 80 0 0.00 23 35 60.34 48 0 0.00 28 21 42.86 LZTS1 0 genome.wustl.edu 37 8 20110991 20110991 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 8 20110991 20110991 G C SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.451 p.P151A 0.999 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 - - 95 0 0.00 58 40 40.82 10 0 0.00 11 2 15.38 SLC25A3 0 genome.wustl.edu 37 12 98993839 98993839 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 98993839 98993839 C T SNP SLC25A3 ENST00000228318 human ensembl 74_37 +1 known missense c.751 p.P251S 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 tier1 - - 53 0 0.00 44 270 85.99 98 0 0.00 126 723 85.16 PPARA 0 genome.wustl.edu 37 22 46611070 46611070 + Missense_Mutation SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 22 46611070 46611070 A G SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.209 p.D70G 1.000 prints_1Cnucl_rcpt_A 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_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 tier1 - - 78 0 0.00 21 18 46.15 70 0 0.00 33 22 40.00 GRIK3 0 genome.wustl.edu 37 1 37271806 37271806 + Missense_Mutation SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 37271806 37271806 A G SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2213 p.M738T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 121 0 0.00 63 41 39.05 55 0 0.00 27 33 55.00 MYH3 0 genome.wustl.edu 37 17 10537376 10537376 + Missense_Mutation SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 10537376 10537376 C G SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4480 p.D1494H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 70 0 0.00 13 32 71.11 123 0 0.00 35 49 58.33 ADAMTS15 0 genome.wustl.edu 37 11 130319823 130319823 + Nonsense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 130319823 130319823 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known nonsense c.955 p.Q319* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 tier1 - - 53 0 0.00 11 20 64.52 70 0 0.00 24 25 51.02 SVEP1 0 genome.wustl.edu 37 9 113170710 113170710 + Silent SNP A A T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 9 113170710 113170710 A T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.7170 p.G2390 0.928 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 23 0 0.00 28 43 60.56 108 0 0.00 118 120 50.42 TLE2 0 genome.wustl.edu 37 19 3019293 3019293 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 19 3019293 3019293 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.538 p.E180K 0.679 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 68 0 0.00 51 22 29.73 30 0 0.00 11 3 21.43 TRPV3 0 genome.wustl.edu 37 17 3436043 3436043 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 3436043 3436043 G C SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.973 p.L325V 0.999 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 tier1 - - 71 0 0.00 36 20 35.71 64 0 0.00 49 32 39.51 DSE2B 0 genome.wustl.edu 37 1 84878060 84878060 + Silent SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 84878060 84878060 C T SNP DSE2B ENST00000370665 human ensembl 74_37 +1 known silent c.576 p.N192 0.030 pfam_DNase_II pfam_DNase_II - no_errors DSE2B HGNC ENSG00000137976 tier1 - - 31 0 0.00 20 17 45.95 63 0 0.00 44 29 39.73 CALN1 0 genome.wustl.edu 37 7 71571178 71571178 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 71571178 71571178 C T SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.346 p.E116K 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 44 0 0.00 29 18 38.30 58 0 0.00 22 31 58.49 RIMBP2 0 genome.wustl.edu 37 12 130919312 130919312 + Silent SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 130919312 130919312 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.2169 p.D723 0.781 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 74 0 0.00 36 5 12.20 44 0 0.00 25 18 40.91 DCC 0 genome.wustl.edu 37 18 50592510 50592510 + Missense_Mutation SNP G G T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 18 50592510 50592510 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1235 p.S412I 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC ENSG00000187323 tier1 - - 89 0 0.00 30 10 25.00 105 0 0.00 36 23 38.98 KPRP 0 genome.wustl.edu 37 1 152732093 152732093 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 152732093 152732093 G A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.29 p.R10H 0.849 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 89 0 0.00 52 8 12.70 32 0 0.00 19 4 17.39 COG5 0 genome.wustl.edu 37 7 107002523 107002523 + Missense_Mutation SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 107002523 107002523 C G SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1074 p.K358N 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 - - 63 0 0.00 21 17 44.74 79 0 0.00 51 34 40.00 CDX4 0 genome.wustl.edu 37 X 72667297 72667297 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 X 72667297 72667297 G A SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.208 p.G70R 0.880 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 tier1 - - 32 0 0.00 39 58 59.79 22 0 0.00 35 42 54.55 POM121L2 0 genome.wustl.edu 37 6 27279851 27279851 + Missense_Mutation SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 6 27279851 27279851 C A SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.99 p.Q33H 0.004 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 131 0 0.00 41 22 34.92 35 0 0.00 12 5 29.41 ZUFSP 0 genome.wustl.edu 37 6 116973247 116973247 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 6 116973247 116973247 C T SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known missense c.1070 p.G357D 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 tier1 - - 47 0 0.00 8 14 63.64 116 0 0.00 56 46 45.10 PEG3 0 genome.wustl.edu 37 19 57334999 57334999 + Missense_Mutation SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 19 57334999 57334999 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.443 p.R148I 0.000 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 151 0 0.00 101 10 9.01 56 0 0.00 46 9 16.36 ZFC3H1 0 genome.wustl.edu 37 12 72026677 72026677 + Missense_Mutation SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 72026677 72026677 C A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.2806 p.D936Y 0.998 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 25 0 0.00 79 13 14.13 109 0 0.00 364 65 15.15 UTP23 0 genome.wustl.edu 37 8 117783742 117783742 + Silent SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 8 117783742 117783742 C T SNP UTP23 ENST00000309822 human ensembl 74_37 +1 known silent c.411 p.L137 0.985 pfam_Fcf1/Utp23 pfam_Fcf1/Utp23 - no_errors UTP23 HGNC ENSG00000147679 tier1 - - 38 0 0.00 41 23 35.94 79 0 0.00 68 42 38.18 HEPHL1 0 genome.wustl.edu 37 11 93819353 93819353 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 93819353 93819353 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2078 p.A693V 0.998 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 68 0 0.00 24 49 67.12 42 0 0.00 32 22 40.74 DH2 0 genome.wustl.edu 37 17 7640498 7640498 + Silent SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 7640498 7640498 G A SNP DH2 ENST00000389173 human ensembl 74_37 +1 known silent c.1092 p.L364 0.942 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 45 0 0.00 21 21 50.00 51 0 0.00 37 51 57.95 HEPHL1 0 genome.wustl.edu 37 11 93819313 93819313 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 93819313 93819313 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2038 p.P680S 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 77 0 0.00 30 46 60.53 30 0 0.00 25 25 50.00 MYH3 0 genome.wustl.edu 37 17 10539137 10539137 + Missense_Mutation SNP C C G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 10539137 10539137 C G SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3890 p.S1297T 0.888 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 62 0 0.00 15 17 53.12 85 0 0.00 32 50 60.98 C6orf165 0 genome.wustl.edu 37 6 88125496 88125496 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 6 88125496 88125496 G C SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.376 p.E126Q 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 49 0 0.00 7 20 74.07 96 0 0.00 18 36 66.67 SCN1A 0 genome.wustl.edu 37 2 166912969 166912969 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 2 166912969 166912969 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.425 p.C142Y 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 46 0 0.00 7 13 65.00 101 0 0.00 20 37 64.91 MAP4K4 0 genome.wustl.edu 37 2 102493602 102493602 + Missense_Mutation SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 2 102493602 102493602 A G SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.3187 p.I1063V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 tier1 - - 95 0 0.00 54 13 19.40 125 0 0.00 96 23 19.33 SHANK2 0 genome.wustl.edu 37 11 70331623 70331623 + Missense_Mutation SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 70331623 70331623 C A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.4778 p.G1593V 0.038 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 27 0 0.00 13 8 38.10 39 0 0.00 33 20 37.74 ZNF683 0 genome.wustl.edu 37 1 26691499 26691499 + Missense_Mutation SNP A A T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 26691499 26691499 A T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.538 p.S180T 0.043 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 tier1 - - 65 0 0.00 33 19 36.54 74 0 0.00 28 36 55.38 CEP290 0 genome.wustl.edu 37 12 88508231 88508231 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 88508231 88508231 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.2024 p.S675F 0.983 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 50 0 0.00 146 182 55.49 85 0 0.00 313 267 45.96 MAP3K5 0 genome.wustl.edu 37 6 137015432 137015432 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 6 137015432 137015432 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.1099 p.D367N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 45 0 0.00 32 8 20.00 79 0 0.00 44 8 15.38 APBA3 0 genome.wustl.edu 37 19 3759868 3759868 + Missense_Mutation SNP A A C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 19 3759868 3759868 A C SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known missense c.395 p.L132R 0.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 tier1 - - 57 0 0.00 31 19 38.00 29 0 0.00 15 13 46.43 PDHX 0 genome.wustl.edu 37 11 35006133 35006133 + Missense_Mutation SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 35006133 35006133 A G SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.1040 p.N347S 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 tier1 - - 45 0 0.00 16 10 38.46 79 0 0.00 31 15 32.61 CEP290 0 genome.wustl.edu 37 12 88508256 88508256 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 88508256 88508256 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.1999 p.P667S 0.909 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 56 0 0.00 166 216 56.54 83 0 0.00 288 276 48.76 DH2 0 genome.wustl.edu 37 17 7642332 7642332 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 7642332 7642332 G C SNP DH2 ENST00000082259 human ensembl 74_37 +1 known missense c.1416 p.E472D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom-1 - no_errors DH2 HGNC ENSG00000183914 tier1 - - 75 0 0.00 41 27 39.71 116 1 0.85 63 45 41.67 CCNL1 0 genome.wustl.edu 37 3 156867129 156867129 + Missense_Mutation SNP A A C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 3 156867129 156867129 A C SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1179 p.S393R 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 tier1 - - 68 0 0.00 25 19 43.18 80 0 0.00 49 40 44.94 SCN5A 0 genome.wustl.edu 37 3 38601888 38601888 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 3 38601888 38601888 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3995 p.P1332L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 rs199473225 - 45 0 0.00 41 7 14.58 51 0 0.00 52 12 18.75 AQR 0 genome.wustl.edu 37 15 35189162 35189162 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 15 35189162 35189162 G A SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2396 p.T799M 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 22 0 0.00 11 9 45.00 86 0 0.00 49 24 32.88 CEP290 0 genome.wustl.edu 37 12 88508221 88508221 + Silent SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 88508221 88508221 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known silent c.2034 p.I678 0.962 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 49 0 0.00 137 172 55.66 87 0 0.00 314 269 45.98 COL7A1 0 genome.wustl.edu 37 3 48603732 48603732 + Frame_Shift_Del DEL C C - TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 3 48603732 48603732 C - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.8375 p.G2792fs 0.596 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 37 0 0.00 35 22 38.60 65 0 0.00 55 20 26.67 COG5 0 genome.wustl.edu 37 7 107002489 107002489 + Frame_Shift_Del DEL C C - TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 107002489 107002489 C - DEL COG5 ENST00000297135 human ensembl 74_37 -1 known frame_shift_del c.1108 p.E370fs 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 59 0 0.00 22 15 40.54 75 0 0.00 59 30 33.71 COG5 0 genome.wustl.edu 37 7 107002492 107002492 + Frame_Shift_Del DEL C C - TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 107002492 107002492 C - DEL COG5 ENST00000297135 human ensembl 74_37 -1 known frame_shift_del c.1105 p.E369fs 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 58 0 0.00 22 15 40.54 76 0 0.00 57 30 34.48 KC5 0 genome.wustl.edu 37 12 5154464 5154464 + Missense_Mutation SNP G G T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 5154464 5154464 G T SNP KC5 ENST00000252321 human ensembl 74_37 +1 known missense c.1151 p.G384V 0.088 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC5 HGNC ENSG00000130037 tier1 - - 48 0 0.00 44 13 22.81 21 0 0.00 8 10 55.56 MYH3 0 genome.wustl.edu 37 17 10533632 10533632 + Silent SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 10533632 10533632 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.5430 p.K1810 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 139 0 0.00 39 43 52.44 58 0 0.00 6 24 77.42 FZD2 0 genome.wustl.edu 37 17 42636675 42636675 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 42636675 42636675 G C SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1619 p.W540S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 tier1 - - 78 0 0.00 103 24 18.90 47 0 0.00 61 6 8.96 SLC41A2 0 genome.wustl.edu 37 12 105260245 105260245 + Frame_Shift_Del DEL G G - TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 12 105260245 105260245 G - DEL SLC41A2 ENST00000258538 human ensembl 74_37 -1 known frame_shift_del c.1140 p.W381fs 0.998 NULL pfam_SLC41_membr_dom - no_errors SLC41A2 HGNC ENSG00000136052 tier1 66 0 0.00 77 61 44.20 43 0 0.00 76 4 5.00 PRMT2 0 genome.wustl.edu 37 21 48084213 48084214 + Frame_Shift_Ins INS - - AA TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 - - - AA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 21 48084213 48084214 - AA INS PRMT2 ENST00000355680 human ensembl 74_37 +1 known frame_shift_ins c.1276_1277 p.V428fs 0.999:0.995 NULL pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tR_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 tier1 50 0 0.00 50 6 10.71 79 0 0.00 112 7 5.88 DJB3 0 genome.wustl.edu 37 2 234652338 234652338 + R SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 2 234652338 234652338 G A SNP DJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DJB3 HGNC ENSG00000227802 tier1 rs184388078 GMAF=0.0005 105 0 0.00 13 32 68.09 44 1 2.22 7 29 80.56 IGSF3 0 genome.wustl.edu 37 1 117122058 117122058 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 1 117122058 117122058 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3350 p.T1117M 0.983 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 54 0 0.00 20 23 53.49 33 1 2.94 25 16 39.02 TRIM49C 0 genome.wustl.edu 37 11 89768577 89768577 + Silent SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 11 89768577 89768577 C T SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known silent c.198 p.T66 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_D-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 rs201628038 - 65 0 0.00 6 5 45.45 15 0 0.00 1 0 0.00 CEACAM4 0 genome.wustl.edu 37 19 42133313 42133313 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 19 42133313 42133313 C T SNP CEACAM4 ENST00000221954 human ensembl 74_37 -1 known missense c.19 p.A7T 0.000 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 tier1 rs112325334 - 53 0 0.00 18 19 51.35 3 0 0.00 1 1 50.00 DNM1P47 0 genome.wustl.edu 37 15 102299878 102299878 + R SNP C C A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 15 102299878 102299878 C A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs200606529 - 41 0 0.00 30 7 18.92 0 0 0.00 0 0 0.00 KRT18P55 0 genome.wustl.edu 37 17 26603750 26603750 + R SNP T T A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 26603750 26603750 T A SNP KRT18P55 ENST00000577198 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT18P55 HGNC ENSG00000265480 tier1 - - 25 0 0.00 17 6 26.09 0 0 0.00 2 0 0.00 LOC101930494 0 genome.wustl.edu 37 7 128263652 128263652 + R SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 128263652 128263652 G A SNP LOC101930494 ENST00000605862 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-274B21.1 Clone_based_vega_gene ENSG00000242588 tier1 - - 35 0 0.00 31 6 16.22 0 0 0.00 0 0 0.00 LOC101930494 0 genome.wustl.edu 37 7 128263709 128263709 + R SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 7 128263709 128263709 G A SNP LOC101930494 ENST00000605862 human ensembl 74_37 +1 known rna NULL NULL 0.212 - - - no_errors RP11-274B21.1 Clone_based_vega_gene ENSG00000242588 tier1 - - 55 0 0.00 58 8 12.12 0 0 0.00 0 0 0.00 PCDHB7 0 genome.wustl.edu 37 5 140553993 140553993 + Missense_Mutation SNP C C T TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 5 140553993 140553993 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1577 p.A526V 0.030 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 180 0 0.00 134 34 20.24 1 0 0.00 4 1 20.00 HECA 0 genome.wustl.edu 37 6 139487930 139487930 + Missense_Mutation SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 6 139487930 139487930 G A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.781 p.G261S 0.928 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 tier1 - - 21 0 0.00 8 11 57.89 3 0 0.00 7 8 53.33 KRTAP4-9 0 genome.wustl.edu 37 17 39261912 39261912 + Missense_Mutation SNP G G C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 17 39261912 39261912 G C SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.272 p.R91T 0.436 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 tier1 - - 251 0 0.00 196 99 33.45 2 0 0.00 1 5 83.33 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 3 0 0.00 8 2 20.00 3 0 0.00 8 2 20.00 HERC2P4 0 genome.wustl.edu 37 16 32186906 32186906 + R SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 72f0a49a-aec8-47e5-846a-956c4da1507c d732488f-aa89-4ee1-8915-c6ba1c5a5c44 16 32186906 32186906 A G SNP HERC2P4 ENST00000566591 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 40 0 0.00 33 8 19.51 25 0 0.00 21 2 8.70