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 LILRB5 0 genome.wustl.edu 37 19 54760201 54760201 + Silent SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 54760201 54760201 G A SNP LILRB5 ENST00000449561 human ensembl 74_37 -1 known silent c.360 p.F120 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 50 0 0.00 45 25 35.71 67 0 0.00 64 44 40.74 SRGAP3 0 genome.wustl.edu 37 3 9055464 9055464 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 3 9055464 9055464 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.1876 p.V626M 0.985 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 77 0 0.00 61 32 34.41 98 0 0.00 70 30 30.00 S1PR1 0 genome.wustl.edu 37 1 101704603 101704603 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 101704603 101704603 C T SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known silent c.63 p.N21 1.000 prints_S1P_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 tier1 - - 39 0 0.00 24 17 41.46 48 0 0.00 44 14 24.14 LINC00910 0 genome.wustl.edu 37 17 41454985 41454985 + R SNP T T C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 17 41454985 41454985 T C SNP LINC00910 ENST00000587874 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LINC00910 HGNC ENSG00000188825 tier1 - - 36 0 0.00 48 10 17.24 41 0 0.00 30 4 11.76 TTC40 0 genome.wustl.edu 37 10 134686254 134686254 + Silent SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 10 134686254 134686254 G A SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known silent c.4437 p.P1479 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 38 0 0.00 38 6 13.64 71 0 0.00 53 15 22.06 ENSG00000216073 0 genome.wustl.edu 37 11 97783853 97783853 + R SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 11 97783853 97783853 T A SNP ENSG00000216073 ENST00000401254 human ensembl 74_37 -1 novel rna NULL NULL 0.071 - - - no_errors AP003730.1 Clone_based_ensembl_gene ENSG00000216073 tier1 - - 27 0 0.00 5 4 44.44 13 0 0.00 14 9 39.13 MYF5 0 genome.wustl.edu 37 12 81111197 81111197 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 81111197 81111197 C T SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.355 p.P119S 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 tier1 - - 38 0 0.00 55 11 16.67 98 0 0.00 83 30 26.32 RYR1 0 genome.wustl.edu 37 19 39075732 39075732 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 39075732 39075732 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.14796 p.I4932 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 40 0 0.00 92 28 23.33 68 0 0.00 122 38 23.75 KIF2B 0 genome.wustl.edu 37 17 51901724 51901724 + Missense_Mutation SNP T T C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 17 51901724 51901724 T C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1330 p.S444P 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 35 0 0.00 22 12 35.29 58 0 0.00 49 19 27.94 LRP1 0 genome.wustl.edu 37 12 57600488 57600488 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 57600488 57600488 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.11823 p.H3941 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 41 0 0.00 26 10 27.78 33 0 0.00 20 7 25.93 ABCB6 0 genome.wustl.edu 37 2 220074953 220074953 + Nonsense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 220074953 220074953 G A SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known nonsense c.2419 p.R807* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 rs201568572 - 63 0 0.00 42 23 35.38 82 0 0.00 50 15 23.08 NID1 0 genome.wustl.edu 37 1 236142371 236142371 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 236142371 236142371 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.3546 p.K1182 0.813 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 37 0 0.00 99 80 44.69 68 1 1.45 197 127 39.20 DBF4 0 genome.wustl.edu 37 7 87514432 87514432 + Missense_Mutation SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 7 87514432 87514432 C G SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.358 p.H120D 1.000 superfamily_BRCT_dom pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 - - 39 0 0.00 30 20 40.00 28 0 0.00 30 11 26.19 LILRB5 0 genome.wustl.edu 37 19 54756803 54756803 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 54756803 54756803 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1378 p.V460I 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 rs146369950 - 56 0 0.00 66 15 18.52 33 0 0.00 49 7 12.50 C3orf52 0 genome.wustl.edu 37 3 111849257 111849257 + R SNP A A G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 3 111849257 111849257 A G SNP C3orf52 ENST00000467942 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors C3orf52 HGNC ENSG00000114529 tier1 - - 96 0 0.00 80 26 24.53 103 0 0.00 110 24 17.91 NBEAL1 0 genome.wustl.edu 37 2 203942512 203942512 + Silent SNP T T G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 203942512 203942512 T G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known silent c.636 p.L212 0.996 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 78 0 0.00 55 12 17.91 70 0 0.00 76 12 13.64 NOS1 0 genome.wustl.edu 37 12 117710226 117710226 + Silent SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 117710226 117710226 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1803 p.R601 0.567 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 55 0 0.00 58 16 21.62 54 0 0.00 20 12 37.50 MUC16 0 genome.wustl.edu 37 19 9048510 9048510 + Missense_Mutation SNP C C A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 9048510 9048510 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.33121 p.V11041L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 101 0 0.00 41 20 32.79 23 0 0.00 20 6 23.08 MROH2B 0 genome.wustl.edu 37 5 40998776 40998776 + Missense_Mutation SNP G G T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 5 40998776 40998776 G T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4589 p.A1530D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 33 0 0.00 16 9 36.00 83 0 0.00 65 24 26.97 OR11H12 0 genome.wustl.edu 37 14 19378392 19378392 + Missense_Mutation SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 14 19378392 19378392 T A SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.799 p.Y267N 0.538 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 tier1 - - 35 0 0.00 24 99 80.49 23 0 0.00 17 107 86.29 CYP2C18 0 genome.wustl.edu 37 10 96495187 96495187 + Missense_Mutation SNP T T G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 10 96495187 96495187 T G SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1459 p.F487V 0.793 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 tier1 - - 85 0 0.00 64 28 30.43 98 0 0.00 59 32 35.16 TTN 0 genome.wustl.edu 37 2 179438310 179438310 + Missense_Mutation SNP C C A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 179438310 179438310 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64845 p.K21615N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 41 0 0.00 31 18 36.73 82 1 1.20 54 20 26.67 DIS3L 0 genome.wustl.edu 37 15 66599178 66599178 + Nonsense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 15 66599178 66599178 C T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known nonsense c.310 p.R104* 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 tier1 - - 54 0 0.00 38 20 34.48 69 0 0.00 38 15 28.30 IL6R 0 genome.wustl.edu 37 1 154401712 154401712 + Missense_Mutation SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 154401712 154401712 C G SNP IL6R ENST00000368485 human ensembl 74_37 +1 known missense c.126 p.S42R 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 tier1 - - 59 0 0.00 100 14 12.28 36 0 0.00 73 15 16.85 KIAA1217 0 genome.wustl.edu 37 10 24810764 24810764 + Missense_Mutation SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 10 24810764 24810764 G C SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.2362 p.E788Q 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 32 0 0.00 20 19 48.72 49 0 0.00 19 7 26.92 ARPC3 0 genome.wustl.edu 37 12 110888066 110888066 + R SNP C C A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 110888066 110888066 C A SNP ARPC3 ENST00000471641 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors ARPC3 HGNC ENSG00000111229 tier1 - - 44 0 0.00 43 16 27.12 37 0 0.00 20 6 23.08 CTSL3P 0 genome.wustl.edu 37 9 90388540 90388540 + R SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 9 90388540 90388540 C G SNP CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTSL3P HGNC ENSG00000188029 tier1 rs139706141 - 78 0 0.00 75 25 25.00 64 0 0.00 71 24 25.26 OSBPL6 0 genome.wustl.edu 37 2 179188982 179188982 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 179188982 179188982 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.118 p.V40I 0.007 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 29 0 0.00 39 8 17.02 59 0 0.00 32 27 45.76 LBH 0 genome.wustl.edu 37 2 30454435 30454435 + R SNP A A G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 30454435 30454435 A G SNP LBH ENST00000464412 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LBH HGNC ENSG00000213626 tier1 - - 8 0 0.00 16 7 30.43 19 0 0.00 31 5 13.89 MYO7B 0 genome.wustl.edu 37 2 128350513 128350513 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 128350513 128350513 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2137 p.R713W 0.005 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 55 0 0.00 53 28 34.57 26 0 0.00 21 7 25.00 UMODL1 0 genome.wustl.edu 37 21 43557666 43557666 + Missense_Mutation SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 21 43557666 43557666 T A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.4277 p.M1426K 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 75 0 0.00 21 19 47.50 61 0 0.00 18 12 40.00 PIK3C2G 0 genome.wustl.edu 37 12 18477970 18477970 + Missense_Mutation SNP C C A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 18477970 18477970 C A SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.1210 p.Q404K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 44 0 0.00 9 3 25.00 48 0 0.00 46 24 33.33 SLC44A2 0 genome.wustl.edu 37 19 10747106 10747106 + Missense_Mutation SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 10747106 10747106 C G SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1341 p.I447M 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 tier1 - - 76 0 0.00 169 18 9.63 31 0 0.00 61 14 18.67 PRDM2 0 genome.wustl.edu 37 1 14107396 14107396 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 14107396 14107396 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.3106 p.P1036S 0.283 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 50 0 0.00 54 20 27.03 35 0 0.00 62 19 23.46 ENSG00000189332 0 genome.wustl.edu 37 11 18231484 18231484 + Silent SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 11 18231484 18231484 G A SNP ENSG00000189332 ENST00000340135 human ensembl 74_37 +1 novel silent c.270 p.R90 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors RP11-113D6.10 Clone_based_vega_gene ENSG00000189332 tier1 - - 69 0 0.00 60 21 25.93 58 0 0.00 34 22 39.29 HLA-V 0 genome.wustl.edu 37 6 29764977 29764977 + R SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 6 29764977 29764977 G A SNP HLA-V ENST00000457107 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 - - 65 0 0.00 50 26 34.21 100 0 0.00 84 35 29.41 PRDM2 0 genome.wustl.edu 37 1 14107394 14107394 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 14107394 14107394 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.3104 p.P1035L 0.877 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 54 0 0.00 53 20 27.40 34 0 0.00 62 19 23.46 MYO5B 0 genome.wustl.edu 37 18 47500968 47500968 + Silent SNP T T C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 18 47500968 47500968 T C SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.1074 p.L358 0.011 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 31 0 0.00 42 16 27.59 50 0 0.00 48 16 25.00 GNS 0 genome.wustl.edu 37 12 65130858 65130858 + Nonsense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 65130858 65130858 G A SNP GNS ENST00000258145 human ensembl 74_37 -1 known nonsense c.1024 p.Q342* 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Glcc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Glcc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 tier1 - - 27 0 0.00 43 299 87.17 89 1 1.11 85 629 88.10 DSCAM 0 genome.wustl.edu 37 21 41719729 41719729 + Missense_Mutation SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 21 41719729 41719729 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.1078 p.V360M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 96 0 0.00 26 19 42.22 89 0 0.00 27 12 30.77 KRT79 0 genome.wustl.edu 37 12 53228026 53228026 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 53228026 53228026 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.19 p.R7W 0.397 NULL pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 tier1 - - 67 0 0.00 70 35 33.33 47 0 0.00 31 12 27.91 FCHO1 0 genome.wustl.edu 37 19 17881328 17881328 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 17881328 17881328 G A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.431 p.R144H 0.913 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 35 0 0.00 34 14 29.17 38 0 0.00 16 6 27.27 CPNE6 0 genome.wustl.edu 37 14 24543259 24543259 + Splice_Site SNP G G T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 14 24543259 24543259 G T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known splice_site c.514-1 e5-1 1.000 - - - no_errors CPNE6 HGNC ENSG00000100884 tier1 - - 36 0 0.00 92 9 8.91 105 0 0.00 159 19 10.67 PHLDB2 0 genome.wustl.edu 37 3 111651219 111651219 + Missense_Mutation SNP A A C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 3 111651219 111651219 A C SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.2105 p.E702A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 24 0 0.00 22 27 55.10 113 0 0.00 61 48 44.04 NMRK1 0 genome.wustl.edu 37 9 77676433 77676433 + R SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 9 77676433 77676433 C T SNP NMRK1 ENST00000482537 human ensembl 74_37 -1 known rna NULL NULL 0.060 - - - no_errors NMRK1 HGNC ENSG00000106733 tier1 - - 40 0 0.00 37 11 22.92 108 0 0.00 145 55 27.50 GBP5 0 genome.wustl.edu 37 1 89732799 89732799 + Missense_Mutation SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 89732799 89732799 T A SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.466 p.N156Y 0.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 tier1 - - 39 0 0.00 24 12 33.33 54 0 0.00 60 20 25.00 RAPGEF4 0 genome.wustl.edu 37 2 173679322 173679322 + R SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 173679322 173679322 T A SNP RAPGEF4 ENST00000464976 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 84 0 0.00 52 22 29.73 60 0 0.00 47 24 33.80 WIPI2 0 genome.wustl.edu 37 7 5254196 5254196 + Missense_Mutation SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 7 5254196 5254196 G C SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.242 p.R81T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 tier1 - - 112 0 0.00 106 20 15.87 45 0 0.00 45 17 27.42 SPEG 0 genome.wustl.edu 37 2 220353597 220353597 + Silent SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 220353597 220353597 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.8124 p.T2708 0.086 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 56 0 0.00 51 20 28.17 14 0 0.00 13 5 27.78 ANO3 0 genome.wustl.edu 37 11 26681890 26681890 + Missense_Mutation SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 11 26681890 26681890 G C SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2845 p.E949Q 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 55 0 0.00 56 22 28.21 83 0 0.00 77 16 17.20 DH6 0 genome.wustl.edu 37 2 84861702 84861702 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 84861702 84861702 C T SNP DH6 ENST00000237449 human ensembl 74_37 +1 known silent c.4590 p.D1530 0.974 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 63 0 0.00 43 11 20.37 74 0 0.00 71 17 19.32 VPS4B 0 genome.wustl.edu 37 18 61070983 61070983 + Silent SNP T T C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 18 61070983 61070983 T C SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.441 p.K147 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 tier1 - - 58 0 0.00 29 10 25.64 92 0 0.00 81 18 18.18 TTN 0 genome.wustl.edu 37 2 179596646 179596646 + Nonsense_Mutation SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 2 179596646 179596646 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.13224 p.Y4408* 0.944 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 33 0 0.00 19 11 36.67 113 0 0.00 66 48 42.11 UNC13C 0 genome.wustl.edu 37 15 54306133 54306133 + Missense_Mutation SNP A A G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 15 54306133 54306133 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1033 p.K345E 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 75 0 0.00 27 14 34.15 65 0 0.00 50 27 35.06 CLDN6 0 genome.wustl.edu 37 16 3065590 3065590 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 16 3065590 3065590 G A SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known missense c.433 p.R145W 0.988 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 tier1 - - 29 0 0.00 30 12 28.57 6 0 0.00 16 2 11.11 RABGGTB 0 genome.wustl.edu 37 1 76259678 76259714 + R DEL CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 76259678 76259714 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - DEL RABGGTB ENST00000459697 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001:0.001:0.000:0.002:0.005:0.008:0.009:0.007:0.005:0.003:0.003:0.001:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 47 0 0.00 30 4 11.76 47 0 0.00 30 4 11.76 SPATA42 0 genome.wustl.edu 37 1 109400924 109400924 + R DEL T T - TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 109400924 109400924 T - DEL SPATA42 ENST00000417241 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA42 HGNC ENSG00000203897 tier1 8 0 0.00 15 6 28.57 19 0 0.00 13 6 31.58 LGALS3BP 0 genome.wustl.edu 37 17 76968782 76968783 + Frame_Shift_Ins INS - - GTAC TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 - - - GTAC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 17 76968782 76968783 - GTAC INS LGALS3BP ENST00000262776 human ensembl 74_37 -1 known frame_shift_ins c.634_633 p.F211fs 0.997:1.000 superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 tier1 21 0 0.00 17 8 32.00 60 0 0.00 12 12 50.00 TJP2 0 genome.wustl.edu 37 9 71869131 71869132 + Frame_Shift_Ins INS - - C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 9 71869131 71869132 - C INS TJP2 ENST00000539225 human ensembl 74_37 +1 known frame_shift_ins c.3507_3508 p.E1171fs 0.167:0.194 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 tier1 39 0 0.00 46 10 17.86 80 0 0.00 93 15 13.89 TRIM52 0 genome.wustl.edu 37 5 180686884 180686888 + R DEL AAGAG AAGAG - TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 AAGAG AAGAG AAGAG - AAGAG AAGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 5 180686884 180686888 AAGAG - DEL TRIM52 ENST00000514805 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.001:0.002 - - - no_errors TRIM52 HGNC ENSG00000183718 tier1 81 0 0.00 38 21 35.59 81 0 0.00 38 21 35.59 101928757 0 genome.wustl.edu 37 10 17891663 17891663 + Missense_Mutation SNP A A G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 10 17891663 17891663 A G SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.1144 p.K382E 0.970 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 24 0 0.00 0 9 100.00 16 0 0.00 0 8 100.00 METRN 0 genome.wustl.edu 37 16 766992 766992 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 16 766992 766992 G A SNP METRN ENST00000568223 human ensembl 74_37 +1 known missense c.565 p.V189I 1.000 NULL NULL - no_errors METRN HGNC ENSG00000103260 tier1 - - 66 0 0.00 111 42 27.45 7 0 0.00 5 3 37.50 CEP350 0 genome.wustl.edu 37 1 179961245 179961245 + Missense_Mutation SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 179961245 179961245 C G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.284 p.S95C 0.824 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 48 0 0.00 119 14 10.53 95 1 1.04 344 29 7.77 MPO 0 genome.wustl.edu 37 17 56355490 56355490 + Missense_Mutation SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 17 56355490 56355490 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.998 p.P333L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 21 0 0.00 44 8 15.38 49 0 0.00 85 7 7.61 PRMT5-AS1 0 genome.wustl.edu 37 14 23389819 23389819 + R SNP G G A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 14 23389819 23389819 G A SNP PRMT5-AS1 ENST00000424245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRMT5-AS1 HGNC ENSG00000237054 tier1 - - 28 0 0.00 36 7 16.28 84 0 0.00 117 10 7.87 ARHGEF25 0 genome.wustl.edu 37 12 58008522 58008522 + Silent SNP C C T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 12 58008522 58008522 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known silent c.984 p.I328 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 tier1 - - 29 0 0.00 258 24 8.51 38 0 0.00 308 20 6.10 LOC100508046 0 genome.wustl.edu 37 14 20010458 20010458 + R SNP T T C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 14 20010458 20010458 T C SNP LOC100508046 ENST00000547584 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 tier1 - - 21 0 0.00 14 4 22.22 24 1 3.85 35 28 43.08 ENSG00000221281 0 genome.wustl.edu 37 6 67069360 67069361 + R INS - - ACACACACAC TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 6 67069360 67069361 - ACACACACAC INS ENSG00000221281 ENST00000408354 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002485.1 Clone_based_ensembl_gene ENSG00000221281 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 HERC2P4 0 genome.wustl.edu 37 16 32163957 32163957 + R SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 16 32163957 32163957 G C SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.818 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 83 0 0.00 76 20 20.83 3 0 0.00 5 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950712 79950738 + In_Frame_Del DEL GCGGCCGCAGCGGCCGCAGCGCCCCCA GCGGCCGCAGCGGCCGCAGCGCCCCCA - TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 GCGGCCGCAGCGGCCGCAGCGCCCCCA GCGGCCGCAGCGGCCGCAGCGCCCCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 5 79950712 79950738 GCGGCCGCAGCGGCCGCAGCGCCCCCA - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known in_frame_del c.166_192 p.AAAAAAPPA57in_frame_del 0.238:0.205:0.172:0.140:0.107:0.075:0.032:0.035:0.048:0.057:0.087:0.730:0.747:0.894:0.911:0.915:0.941:0.965:0.997:1.000:1.000:1.000:1.000:0.988:0.984:0.963:0.965 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 NBPF10 0 genome.wustl.edu 37 1 145366987 145366987 + Missense_Mutation SNP C C G TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 1 145366987 145366987 C G SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10297 p.L3433V 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 29 0 0.00 10 7 41.18 0 0 0.00 0 0 0.00 WASH3P 0 genome.wustl.edu 37 15 102516467 102516467 + R SNP T T A TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 15 102516467 102516467 T A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 274 1 0.36 282 25 8.14 0 0 0.00 0 0 0.00 PRKCSH 0 genome.wustl.edu 37 19 11558341 11558346 + In_Frame_Del DEL GAGGAG GAGGAG - TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 GAGGAG GAGGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 19 11558341 11558346 GAGGAG - DEL PRKCSH ENST00000252455 human ensembl 74_37 +1 known in_frame_del c.937_942 p.EE316in_frame_del 0.997:0.999:0.994:1.000:1.000:0.720 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 2 0 0.00 6 5 45.45 2 0 0.00 6 5 45.45 PSD 0 genome.wustl.edu 37 10 104174766 104174766 + Silent SNP G G T TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d332cb1-ba25-47e4-8bf8-d25e14f40d59 5b25b7db-9b62-46da-bb84-314e9186da96 10 104174766 104174766 G T SNP PSD ENST00000020673 human ensembl 74_37 -1 known silent c.978 p.G326 0.988 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 tier1 - - 71 0 0.00 61 26 29.89 4 0 0.00 4 4 50.00