Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ADAMTS2 0 genome.wustl.edu 37 5 178700027 178700027 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 178700027 178700027 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.573 p.I191 0.438 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 211 0 0.00 120 25 17.24 ADAMTS5 0 genome.wustl.edu 37 21 28306884 28306884 + Silent SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 21 28306884 28306884 C A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.1590 p.L530 0.967 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 138 0 0.00 98 6 5.77 ALAS2 0 genome.wustl.edu 37 X 55052357 55052357 + Missense_Mutation SNP A A C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 55052357 55052357 A C SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.77 p.V26G 0.023 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 43 0 0.00 31 9 22.50 ALS2CR11 0 genome.wustl.edu 37 2 202483773 202483773 + Silent SNP G G C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 202483773 202483773 G C SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known silent c.81 p.T27 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 183 0 0.00 197 24 10.86 ARMC2 0 genome.wustl.edu 37 6 109274249 109274249 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 109274249 109274249 G A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.1610 p.R537H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 tier1 - - 24 0 0.00 20 5 20.00 C20orf194 0 genome.wustl.edu 37 20 3276519 3276519 + RNA SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276519 3276519 C T SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 50 0 0.00 51 6 10.53 C20orf194 0 genome.wustl.edu 37 20 3276520 3276520 + RNA SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276520 3276520 A G SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 50 0 0.00 49 6 10.91 C20orf194 0 genome.wustl.edu 37 20 3276540 3276540 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276540 3276540 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 55 0 0.00 52 10 16.13 C20orf194 0 genome.wustl.edu 37 20 3276560 3276560 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276560 3276560 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.044 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 67 0 0.00 50 8 13.79 C20orf194 0 genome.wustl.edu 37 20 3276709 3276709 + RNA SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276709 3276709 A G SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 123 0 0.00 129 7 5.15 C20orf194 0 genome.wustl.edu 37 20 3276725 3276725 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276725 3276725 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 113 0 0.00 132 8 5.71 C20orf194 0 genome.wustl.edu 37 20 3276730 3276730 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 3276730 3276730 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 111 0 0.00 131 8 5.76 C2CD3 0 genome.wustl.edu 37 11 73849766 73849766 + Silent SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 73849766 73849766 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.954 p.S318 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 162 0 0.00 134 32 19.16 CFTR 0 genome.wustl.edu 37 7 117180375 117180375 + Missense_Mutation SNP C C G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 117180375 117180375 C G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1091 p.S364C 1.000 superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel 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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 146 0 0.00 147 17 10.37 CHRNB3 0 genome.wustl.edu 37 8 42587096 42587096 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 42587096 42587096 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.646 p.G216S 0.993 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 tier1 - - 171 0 0.00 136 8 5.56 COL5A1 0 genome.wustl.edu 37 9 137582873 137582873 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 137582873 137582873 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.225 p.Y75 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 222 0 0.00 146 13 8.12 DOCK7 0 genome.wustl.edu 37 1 62976306 62976306 + Missense_Mutation SNP T T G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 62976306 62976306 T G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4294 p.N1432H 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 153 0 0.00 121 19 13.57 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 28 0 0.00 31 4 11.43 EIF2S3 0 genome.wustl.edu 37 X 24086195 24086195 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 24086195 24086195 C T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known silent c.982 p.L328 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 77 0 0.00 60 5 7.69 ENSG00000225792 0 genome.wustl.edu 37 7 26411779 26411782 + RNA DEL AATT AATT - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 AATT AATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 26411779 26411782 AATT - DEL ENSG00000225792 ENST00000451368 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors AC004540.4 Clone_based_vega_gene ENSG00000225792 tier1 9 0 0.00 3 6 66.67 ENSG00000230850 0 genome.wustl.edu 37 1 143157248 143157248 + RNA SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 143157248 143157248 T C SNP ENSG00000230850 ENST00000454861 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-782C8.1 Clone_based_vega_gene ENSG00000230850 tier1 rs79218245 - 15 0 0.00 12 4 25.00 ENSG00000254506 0 genome.wustl.edu 37 11 101465176 101465176 + RNA SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 101465176 101465176 C T SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 tier1 - - 68 0 0.00 74 16 17.78 ENSG00000258654 0 genome.wustl.edu 37 15 20554706 20554706 + Splice_Site SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 15 20554706 20554706 T C SNP ENSG00000258654 ENST00000554815 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.015 - - - no_errors RP11-509A17.3 Clone_based_vega_gene ENSG00000258654 tier1 rs2133835 - 12 0 0.00 4 4 50.00 ENSG00000259827 0 genome.wustl.edu 37 16 56716405 56716405 + RNA SNP T T A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 16 56716405 56716405 T A SNP ENSG00000259827 ENST00000567563 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-343H19.2 Clone_based_vega_gene ENSG00000259827 tier1 - - 217 0 0.00 157 37 19.07 EPHA7 0 genome.wustl.edu 37 6 93979255 93979255 + Missense_Mutation SNP T T G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 93979255 93979255 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.1573 p.N525H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 145 0 0.00 140 38 21.35 FAM47C 0 genome.wustl.edu 37 X 37026574 37026574 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 37026574 37026574 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.91 p.A31T 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 50 0 0.00 33 15 31.25 FLRT3 0 genome.wustl.edu 37 20 14306243 14306243 + Missense_Mutation SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 14306243 14306243 C A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1910 p.R637I 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 tier1 - - 196 0 0.00 184 23 11.06 FOLR2 0 genome.wustl.edu 37 11 71932037 71932037 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 71932037 71932037 C T SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.274 p.R92C 0.989 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 tier1 - - 79 0 0.00 70 7 9.09 GLG1 0 genome.wustl.edu 37 16 74640647 74640647 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 16 74640647 74640647 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.346 p.E116K 1.000 NULL pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 67 0 0.00 69 16 18.82 GPM6B 0 genome.wustl.edu 37 X 13803803 13803803 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 13803803 13803803 G A SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known silent c.306 p.T102 0.312 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 tier1 - - 50 0 0.00 48 12 20.00 HEATR5B 0 genome.wustl.edu 37 2 37215971 37215971 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 37215971 37215971 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.5729 p.S1910L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 100 0 0.00 123 9 6.82 HOXD11 0 genome.wustl.edu 37 2 176972310 176972312 + In_Frame_Del DEL GCG GCG - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 176972310 176972312 GCG - DEL HOXD11 ENST00000249504 human ensembl 74_37 +1 known in_frame_del c.227_229 p.G80in_frame_del 1.000:0.995:1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 tier1 34 0 0.00 20 3 13.04 KCNG1 0 genome.wustl.edu 37 20 49620847 49620847 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 49620847 49620847 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1271 p.T424M 0.998 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 206 0 0.00 135 21 13.46 KCNIP3 0 genome.wustl.edu 37 2 96049917 96049918 + RNA INS - - AC TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 96049917 96049918 - AC INS KCNIP3 ENST00000377181 human ensembl 74_37 +1 known rna NULL NULL 0.979:0.000 - - - no_errors KCNIP3 HGNC ENSG00000115041 tier1 16 0 0.00 16 4 20.00 KCTD1 0 genome.wustl.edu 37 18 24128325 24128327 + In_Frame_Del DEL TCC TCC - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 18 24128325 24128327 TCC - DEL KCTD1 ENST00000417602 human ensembl 74_37 -1 known in_frame_del c.176_174 p.E62in_frame_del 1.000:1.000:0.999 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 tier1 10 0 0.00 4 2 33.33 KIAA1161 0 genome.wustl.edu 37 9 34371925 34371925 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 34371925 34371925 C T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.915 p.Q305 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 tier1 - - 134 0 0.00 132 8 5.71 LOC100996870 0 genome.wustl.edu 37 9 66468909 66468909 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 66468909 66468909 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs78672302 - 25 0 0.00 12 4 25.00 LOC101927806 0 genome.wustl.edu 37 1 17197929 17197929 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 17197929 17197929 G A SNP LOC101927806 ENST00000438002 human ensembl 74_37 +1 known rna NULL NULL 0.838 - - - no_errors U1 RFAM ENSG00000228549 tier1 - - 10 0 0.00 9 6 40.00 LOC728715 0 genome.wustl.edu 37 12 9713438 9713438 + RNA SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 12 9713438 9713438 T C SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.874 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 tier1 rs76076453 - 13 0 0.00 13 6 31.58 LRCH4 0 genome.wustl.edu 37 7 100174731 100174731 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 100174731 100174731 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1342 p.V448M 0.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 tier1 - - 101 0 0.00 103 6 5.50 LRP1B 0 genome.wustl.edu 37 2 141771219 141771219 + Frame_Shift_Del DEL A A - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 141771219 141771219 A 0 DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.2286 p.Q763fs 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 141 0 0.00 115 8 6.50 LYPD2 0 genome.wustl.edu 37 8 143831773 143831773 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 143831773 143831773 G A SNP LYPD2 ENST00000359228 human ensembl 74_37 -1 known silent c.306 p.D102 0.420 smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD2 HGNC ENSG00000197353 tier1 rs138954713 - 8 0 0.00 5 6 54.55 MAP1B 0 genome.wustl.edu 37 5 71493747 71493747 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 71493747 71493747 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4565 p.S1522F 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 148 0 0.00 128 8 5.88 MAP2K7 0 genome.wustl.edu 37 19 7976134 7976134 + Splice_Site SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 7976134 7976134 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known splice_site c.982-1 e8-1 1.000 - - - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 101 0 0.00 75 25 25.00 MEG3 0 genome.wustl.edu 37 14 101324974 101324974 + RNA DEL T T - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 14 101324974 101324974 T - DEL MEG3 ENST00000398460 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 11 0 0.00 2 2 50.00 MSL3 0 genome.wustl.edu 37 X 11783877 11783877 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 11783877 11783877 G A SNP MSL3 ENST00000337339 human ensembl 74_37 +1 known silent c.1200 p.P400 0.000 NULL pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 tier1 rs147621824 - 120 0 0.00 122 18 12.86 NBAS 0 genome.wustl.edu 37 2 15359018 15359018 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 15359018 15359018 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.6311 p.R2104Q 0.994 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 123 0 0.00 88 31 26.05 NID1 0 genome.wustl.edu 37 1 236195854 236195854 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 236195854 236195854 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1384 p.V462I 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 rs111733802 - 107 0 0.00 106 10 8.62 NLRP9 0 genome.wustl.edu 37 19 56235423 56235423 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 56235423 56235423 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.2082 p.G694 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 93 0 0.00 78 49 38.28 NRAP 0 genome.wustl.edu 37 10 115356937 115356937 + Missense_Mutation SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 10 115356937 115356937 A G SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.4363 p.Y1455H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 tier1 - - 124 0 0.00 90 21 18.75 NT5C1B 0 genome.wustl.edu 37 2 18766073 18766073 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 18766073 18766073 G A SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.610 p.R204W 0.610 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 tier1 - - 61 0 0.00 60 6 9.09 NT5C3A 0 genome.wustl.edu 37 7 33102236 33102236 + Nonsense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 33102236 33102236 G A SNP NT5C3A ENST00000242210 human ensembl 74_37 -1 known nonsense c.97 p.Q33* 1.000 NULL pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3A HGNC ENSG00000122643 tier1 - - 39 0 0.00 35 4 10.26 OBSCN 0 genome.wustl.edu 37 1 228525644 228525644 + Splice_Site SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 228525644 228525644 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known splice_site c.16801-1 e66-1 1.000 - - - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 33 0 0.00 27 4 12.90 OR5H14 0 genome.wustl.edu 37 3 97869007 97869007 + Missense_Mutation SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 3 97869007 97869007 A G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.778 p.M260V 0.062 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 83 0 0.00 81 7 7.95 PCDH19 0 genome.wustl.edu 37 X 99661593 99661593 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 99661593 99661593 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.2003 p.A668V 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 43 0 0.00 28 6 17.14 PCDHA6 0 genome.wustl.edu 37 5 140209734 140209734 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 140209734 140209734 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2058 p.A686 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 189 0 0.00 169 38 18.27 PNPLA7 0 genome.wustl.edu 37 9 140357910 140357910 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 140357910 140357910 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.3300 p.D1100 0.947 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 22 0 0.00 21 7 25.00 PTP4A3 0 genome.wustl.edu 37 8 142437149 142437149 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 142437149 142437149 C T SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known silent c.309 p.H103 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 tier1 - - 286 0 0.00 189 35 15.56 RASA1 0 genome.wustl.edu 37 5 86672269 86672269 + Missense_Mutation SNP C C G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 86672269 86672269 C G SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2071 p.L691V 1.000 superfamily_C2_dom pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 80 0 0.00 73 16 17.98 RGPD3 0 genome.wustl.edu 37 2 107041296 107041296 + Missense_Mutation SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 107041296 107041296 G T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3127 p.Q1043K 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 254 0 0.00 263 45 14.61 RNF20 0 genome.wustl.edu 37 9 104314699 104314699 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 104314699 104314699 C T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.1565 p.S522F 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 398 0 0.00 340 72 17.43 RPRM 0 genome.wustl.edu 37 2 154334935 154334935 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 154334935 154334935 G A SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.145 p.R49C 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 tier1 - - 97 0 0.00 98 11 10.09 RPS8 0 genome.wustl.edu 37 1 45243634 45243634 + RNA SNP T T G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 45243634 45243634 T G SNP RPS8 ENST00000474582 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS8 HGNC ENSG00000142937 tier1 - - 68 0 0.00 73 6 7.59 SCUBE2 0 genome.wustl.edu 37 11 9096029 9096029 + Silent SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 9096029 9096029 T C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known silent c.516 p.E172 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 160 0 0.00 144 23 13.77 SEMG2 0 genome.wustl.edu 37 20 43851369 43851369 + Missense_Mutation SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 43851369 43851369 C A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1096 p.Q366K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 tier1 - - 118 0 0.00 114 34 22.97 SI 0 genome.wustl.edu 37 3 164786515 164786515 + Missense_Mutation SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 3 164786515 164786515 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.478 p.F160L 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 169 0 0.00 163 54 24.88 SLC36A3 0 genome.wustl.edu 37 5 150682788 150682788 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 150682788 150682788 G A SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known missense c.128 p.S43L 0.675 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 tier1 - - 59 0 0.00 53 14 20.90 SLFN12 0 genome.wustl.edu 37 17 33738912 33738912 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 33738912 33738912 G A SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known silent c.1182 p.N394 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 tier1 - - 195 0 0.00 229 36 13.58 SRD5A1 0 genome.wustl.edu 37 5 6652021 6652021 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 6652021 6652021 G A SNP SRD5A1 ENST00000274192 human ensembl 74_37 +1 known silent c.360 p.A120 0.018 pfam_3-oxo-5_a-steroid_4-DH_C,pirsf_3-oxo-5-alpha-steroid_4-DH pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 tier1 rs142854865 - 179 0 0.00 138 11 7.38 SYBU 0 genome.wustl.edu 37 8 110592047 110592047 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 110592047 110592047 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.715 p.D239N 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 220 0 0.00 194 37 15.95 TBC1D3P5 0 genome.wustl.edu 37 17 25748082 25748082 + RNA SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 25748082 25748082 G T SNP TBC1D3P5 ENST00000581469 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 tier1 - - 20 0 0.00 17 4 19.05 TGFBR1 0 genome.wustl.edu 37 9 101891170 101891170 + Missense_Mutation SNP A A T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 101891170 101891170 A T SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.131 p.D44V 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 tier1 - - 149 0 0.00 134 21 13.55 TMEM168 0 genome.wustl.edu 37 7 112412891 112412891 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 112412891 112412891 C T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known silent c.1491 p.T497 0.004 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 tier1 rs141029094 - 114 0 0.00 121 8 6.20 TNFRSF13B 0 genome.wustl.edu 37 17 16852054 16852054 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 16852054 16852054 G A SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.443 p.P148L 0.975 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 tier1 rs200173159 - 207 0 0.00 143 30 17.34 TRIM31 0 genome.wustl.edu 37 6 30073011 30073011 + Nonsense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 30073011 30073011 G A SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known nonsense c.892 p.Q298* 0.001 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 tier1 - - 117 0 0.00 110 11 9.09 ZFHX3 0 genome.wustl.edu 37 16 72984716 72984716 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 16 72984716 72984716 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.2868 p.D956 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 112 0 0.00 85 30 26.09 ZNF467 0 genome.wustl.edu 37 7 149462920 149462920 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 149462920 149462920 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 33 0 0.00 37 8 17.39 ZNF71 0 genome.wustl.edu 37 19 57133786 57133786 + Silent SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 57133786 57133786 C A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.1131 p.T377 0.018 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 tier1 - - 188 0 0.00 208 20 8.77 OBSCN 0 genome.wustl.edu 37 1 228525644 228525644 + Splice_Site SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 228525644 228525644 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known splice_site c.16801-1 e66-1 1.000 - - - no_errors OBSCN HGNC ENSG00000154358 29 0 0 25 4 13.7931 NID1 0 genome.wustl.edu 37 1 236195854 236195854 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 236195854 236195854 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1384 p.V462I 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 100 0 0 98 10 9.25926 DOCK7 0 genome.wustl.edu 37 1 62976306 62976306 + Missense_Mutation SNP T T G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 62976306 62976306 T G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4294 p.N1432H 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 123 0 0 97 16 14.1593 SLC45A1 0 genome.wustl.edu 37 1 8390543 8390543 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 1 8390543 8390543 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.1092 p.T364 0.002 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 64 0 0 50 4 7.40741 NRAP 0 genome.wustl.edu 37 10 115356937 115356937 + Missense_Mutation SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 10 115356937 115356937 A G SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.4363 p.Y1455H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 116 0 0 81 19 19 CDC123 0 genome.wustl.edu 37 10 12259410 12259410 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 10 12259410 12259410 C T SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known silent c.384 p.S128 0.992 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 110 0 0 102 15 12.8205 CCDC87 0 genome.wustl.edu 37 11 66358079 66358079 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 66358079 66358079 C T SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.2408 p.R803Q 0.967 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 410 1 0.243309 435 65 13 FOLR2 0 genome.wustl.edu 37 11 71932037 71932037 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 71932037 71932037 C T SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.274 p.R92C 0.989 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 70 0 0 59 5 7.8125 C2CD3 0 genome.wustl.edu 37 11 73849766 73849766 + Silent SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 73849766 73849766 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.954 p.S318 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 139 0 0 114 27 19.1489 SCUBE2 0 genome.wustl.edu 37 11 9096029 9096029 + Silent SNP T T C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 11 9096029 9096029 T C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known silent c.516 p.E172 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 151 0 0 137 22 13.8365 ZFHX3 0 genome.wustl.edu 37 16 72984716 72984716 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 16 72984716 72984716 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.2868 p.D956 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 102 0 0 84 27 24.3243 GLG1 0 genome.wustl.edu 37 16 74640647 74640647 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 16 74640647 74640647 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.346 p.E116K 1.000 NULL pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 63 0 0 64 16 20 TNFRSF13B 0 genome.wustl.edu 37 17 16852054 16852054 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 16852054 16852054 G A SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.443 p.P148L 0.975 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 191 0 0 133 29 17.9012 TBC1D3P5 0 genome.wustl.edu 37 17 25748082 25748082 + RNA SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 25748082 25748082 G T SNP TBC1D3P5 ENST00000581469 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 20 0 0 16 4 20 SLFN12 0 genome.wustl.edu 37 17 33738912 33738912 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 17 33738912 33738912 G A SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known silent c.1182 p.N394 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 165 0 0 203 33 13.9831 LAMA1 0 genome.wustl.edu 37 18 6999933 6999933 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 18 6999933 6999933 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.4446 p.G1482 0.988 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 62 0 0 68 4 5.55556 NLRP9 0 genome.wustl.edu 37 19 56235423 56235423 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 56235423 56235423 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.2082 p.G694 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 89 0 0 71 47 39.8305 ZNF71 0 genome.wustl.edu 37 19 57133786 57133786 + Silent SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 57133786 57133786 C A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.1131 p.T377 0.018 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 168 0 0 188 17 8.29268 MAP2K7 0 genome.wustl.edu 37 19 7976134 7976134 + Splice_Site SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 19 7976134 7976134 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known splice_site c.982-1 e8-1 1.000 - - - no_errors MAP2K7 HGNC ENSG00000076984 96 0 0 70 22 23.913 NBAS 0 genome.wustl.edu 37 2 15359018 15359018 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 15359018 15359018 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.6311 p.R2104Q 0.994 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 111 0 0 83 29 25.8929 RPRM 0 genome.wustl.edu 37 2 154334935 154334935 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 154334935 154334935 G A SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.145 p.R49C 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 91 0 0 89 10 10.101 NT5C1B 0 genome.wustl.edu 37 2 18766073 18766073 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 18766073 18766073 G A SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.610 p.R204W 0.610 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 54 0 0 53 5 8.62069 ALS2CR11 0 genome.wustl.edu 37 2 202483773 202483773 + Silent SNP G G C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 202483773 202483773 G C SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known silent c.81 p.T27 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 167 0 0 180 21 10.4478 HEATR5B 0 genome.wustl.edu 37 2 37215971 37215971 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 37215971 37215971 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.5729 p.S1910L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 91 0 0 104 8 7.14286 SLC8A1 0 genome.wustl.edu 37 2 40657012 40657012 + Missense_Mutation SNP G G T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 2 40657012 40657012 G T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.409 p.L137M 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 151 1 0.657895 126 17 11.8881 FLRT3 0 genome.wustl.edu 37 20 14306243 14306243 + Missense_Mutation SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 14306243 14306243 C A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1910 p.R637I 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 173 0 0 167 17 9.23913 MYLK2 0 genome.wustl.edu 37 20 30409490 30409490 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 30409490 30409490 G A SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.722 p.G241E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 244 1 0.408163 148 31 17.3184 SEMG2 0 genome.wustl.edu 37 20 43851369 43851369 + Missense_Mutation SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 43851369 43851369 C A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1096 p.Q366K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 107 0 0 109 32 22.695 KCNG1 0 genome.wustl.edu 37 20 49620847 49620847 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 20 49620847 49620847 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1271 p.T424M 0.998 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 182 0 0 122 18 12.8571 ADAMTS5 0 genome.wustl.edu 37 21 28306884 28306884 + Silent SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 21 28306884 28306884 C A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.1590 p.L530 0.967 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 127 0 0 91 5 5.20833 ENSG00000161103 0 genome.wustl.edu 37 22 18846098 18846098 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 22 18846098 18846098 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 80 0 0 88 5 5.37634 UROC1 0 genome.wustl.edu 37 3 126216983 126216983 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 3 126216983 126216983 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 357 0 0 208 66 24.0876 SI 0 genome.wustl.edu 37 3 164786515 164786515 + Missense_Mutation SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 3 164786515 164786515 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.478 p.F160L 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 152 0 0 145 47 24.4792 FSTL5 0 genome.wustl.edu 37 4 162307022 162307022 + Silent SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 4 162307022 162307022 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.2421 p.G807 0.926 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 161 1 0.617284 182 12 6.18557 PCDHA6 0 genome.wustl.edu 37 5 140209734 140209734 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 140209734 140209734 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2058 p.A686 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 173 0 0 154 33 17.6471 SLC36A3 0 genome.wustl.edu 37 5 150682788 150682788 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 150682788 150682788 G A SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known missense c.128 p.S43L 0.675 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 58 0 0 50 13 20.6349 ADAMTS2 0 genome.wustl.edu 37 5 178700027 178700027 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 178700027 178700027 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.573 p.I191 0.438 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 186 0 0 107 25 18.9394 SRD5A1 0 genome.wustl.edu 37 5 6652021 6652021 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 6652021 6652021 G A SNP SRD5A1 ENST00000274192 human ensembl 74_37 +1 known silent c.360 p.A120 0.018 pfam_3-oxo-5_a-steroid_4-DH_C,pirsf_3-oxo-5-alpha-steroid_4-DH pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 164 0 0 122 9 6.87023 MAP1B 0 genome.wustl.edu 37 5 71493747 71493747 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 71493747 71493747 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4565 p.S1522F 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 136 0 0 119 8 6.29921 RASA1 0 genome.wustl.edu 37 5 86672269 86672269 + Missense_Mutation SNP C C G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 5 86672269 86672269 C G SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2071 p.L691V 1.000 superfamily_C2_dom pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 72 0 0 67 13 16.25 ARMC2 0 genome.wustl.edu 37 6 109274249 109274249 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 109274249 109274249 G A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.1610 p.R537H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 23 0 0 18 3 14.2857 TRIM31 0 genome.wustl.edu 37 6 30073011 30073011 + Nonsense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 30073011 30073011 G A SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known nonsense c.892 p.Q298* 0.001 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 116 0 0 109 11 9.16667 TRIM15 0 genome.wustl.edu 37 6 30131743 30131743 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 30131743 30131743 C T SNP TRIM15 ENST00000376694 human ensembl 74_37 +1 known silent c.282 p.C94 0.076 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM15 HGNC ENSG00000204610 81 0 0 74 6 7.5 EPHA7 0 genome.wustl.edu 37 6 93979255 93979255 + Missense_Mutation SNP T T G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 6 93979255 93979255 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.1573 p.N525H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 133 0 0 125 31 19.8718 LRCH4 0 genome.wustl.edu 37 7 100174731 100174731 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 100174731 100174731 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1342 p.V448M 0.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 92 0 0 95 6 5.94059 TMEM168 0 genome.wustl.edu 37 7 112412891 112412891 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 112412891 112412891 C T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known silent c.1491 p.T497 0.004 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 103 0 0 108 8 6.89655 CFTR 0 genome.wustl.edu 37 7 117180375 117180375 + Missense_Mutation SNP C C G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 117180375 117180375 C G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1091 p.S364C 1.000 superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel 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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 129 0 0 133 16 10.7383 ZNF467 0 genome.wustl.edu 37 7 149462920 149462920 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 149462920 149462920 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 30 0 0 32 6 15.7895 NT5C3A 0 genome.wustl.edu 37 7 33102236 33102236 + Nonsense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 7 33102236 33102236 G A SNP NT5C3A ENST00000242210 human ensembl 74_37 -1 known nonsense c.97 p.Q33* 1.000 NULL pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3A HGNC ENSG00000122643 34 0 0 32 4 11.1111 SYBU 0 genome.wustl.edu 37 8 110592047 110592047 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 110592047 110592047 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.715 p.D239N 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 203 0 0 181 35 16.2037 PTP4A3 0 genome.wustl.edu 37 8 142437149 142437149 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 142437149 142437149 C T SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known silent c.309 p.H103 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 265 0 0 178 34 16.0377 CHRNB3 0 genome.wustl.edu 37 8 42587096 42587096 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 8 42587096 42587096 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.646 p.G216S 0.993 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 148 0 0 121 8 6.20155 TGFBR1 0 genome.wustl.edu 37 9 101891170 101891170 + Missense_Mutation SNP A A T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 101891170 101891170 A T SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.131 p.D44V 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 131 0 0 107 20 15.748 RNF20 0 genome.wustl.edu 37 9 104314699 104314699 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 104314699 104314699 C T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.1565 p.S522F 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 358 0 0 301 65 17.7596 DOLK 0 genome.wustl.edu 37 9 131708693 131708693 + Missense_Mutation SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 131708693 131708693 C T SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.890 p.R297H 0.984 NULL NULL - no_errors DOLK HGNC ENSG00000175283 192 0 0 192 59 23.506 COL5A1 0 genome.wustl.edu 37 9 137582873 137582873 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 137582873 137582873 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.225 p.Y75 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 192 0 0 124 12 8.82353 PNPLA7 0 genome.wustl.edu 37 9 140357910 140357910 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 140357910 140357910 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.3300 p.D1100 0.947 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 19 0 0 19 6 24 MLLT3 0 genome.wustl.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 20414343 20414343 A G SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.501 p.S167 0.998 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 103 1 0.961538 112 7 5.88235 KIAA1161 0 genome.wustl.edu 37 9 34371925 34371925 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 34371925 34371925 C T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.915 p.Q305 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 116 0 0 114 7 5.78512 LOC100996870 0 genome.wustl.edu 37 9 66457986 66457986 + RNA SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 66457986 66457986 G A SNP LOC100996870 ENST00000452184 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 15 0 0 24 3 11.1111 LOC100996870 0 genome.wustl.edu 37 9 66459918 66459918 + RNA SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 66459918 66459918 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.054 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 18 0 0 16 7 30.4348 MSL3 0 genome.wustl.edu 37 X 11783877 11783877 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 11783877 11783877 G A SNP MSL3 ENST00000337339 human ensembl 74_37 +1 known silent c.1200 p.P400 0.000 NULL pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 109 0 0 113 15 11.7188 GPM6B 0 genome.wustl.edu 37 X 13803803 13803803 + Silent SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 13803803 13803803 G A SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known silent c.306 p.T102 0.312 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 46 0 0 48 12 20 SPANXD 0 genome.wustl.edu 37 X 140785824 140785824 + Missense_Mutation SNP C C A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 140785824 140785824 C A SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.92 p.G31V 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 221 1 0.45045 236 24 9.23077 EIF2S3 0 genome.wustl.edu 37 X 24086195 24086195 + Silent SNP C C T TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 24086195 24086195 C T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known silent c.982 p.L328 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 71 0 0 58 5 7.93651 FAM47C 0 genome.wustl.edu 37 X 37026574 37026574 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 37026574 37026574 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.91 p.A31T 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 49 0 0 30 13 30.2326 ALAS2 0 genome.wustl.edu 37 X 55052357 55052357 + Missense_Mutation SNP A A C TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 55052357 55052357 A C SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.77 p.V26G 0.023 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 40 0 0 31 9 22.5 PCDH19 0 genome.wustl.edu 37 X 99661593 99661593 + Missense_Mutation SNP G G A TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 X 99661593 99661593 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.2003 p.A668V 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 38 0 0 24 6 20 CNTNAP3B 0 genome.wustl.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-RD-A7BS-01A-11D-A32N-08 TCGA-RD-A7BS-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49a05c84-ba44-44e8-88fc-d58d46de9292 7d20beda-a9f6-434e-8e78-b7e0ca187075 9 43844265 43844265 G - DEL CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known frame_shift_del c.1599 p.L534fs 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 98 0 0 108 6 5.26316