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 FAM19A3 0 genome.wustl.edu 37 1 113269276 113269276 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 113269276 113269276 C T SNP FAM19A3 ENST00000369630 human ensembl 74_37 +1 known missense c.484 p.R162W 0.000 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 73 0 0 31 18 36.7347 BCAS2 0 genome.wustl.edu 37 1 115123954 115123954 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 115123954 115123954 C G SNP BCAS2 ENST00000369541 human ensembl 74_37 -1 known missense c.152 p.S51T 1.000 pfam_SPF27 pfam_SPF27 - no_errors BCAS2 HGNC ENSG00000116752 298 0 0 175 33 15.8654 TSPAN2 0 genome.wustl.edu 37 1 115615613 115615613 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 115615613 115615613 C T SNP TSPAN2 ENST00000369516 human ensembl 74_37 -1 known missense c.85 p.V29I 0.995 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC ENSG00000134198 67 0 0 21 17 44.7368 ENSG00000234978 0 genome.wustl.edu 37 1 142803363 142803363 + RNA SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 142803363 142803363 T C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 17 0 0 6 5 45.4545 FLG 0 genome.wustl.edu 37 1 152278792 152278792 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 152278792 152278792 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8570 p.R2857H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 1416 0 0 1177 94 7.39575 SYT11 0 genome.wustl.edu 37 1 155850376 155850376 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 155850376 155850376 G T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known missense c.947 p.R316I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 203 0 0 114 14 10.9375 KIAA0907 0 genome.wustl.edu 37 1 155896493 155896493 + Missense_Mutation SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 155896493 155896493 T C SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.655 p.S219G 0.995 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 140 1 0.70922 95 13 12.037 DEDD 0 genome.wustl.edu 37 1 161091934 161091934 + RNA SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 161091934 161091934 A G SNP DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 0.781 - - - no_errors DEDD HGNC ENSG00000158796 149 0 0 134 16 10.6667 RXRG 0 genome.wustl.edu 37 1 165389170 165389170 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 165389170 165389170 G C SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.379 p.P127A 1.000 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 65 0 0 49 14 22.2222 RXRG 0 genome.wustl.edu 37 1 165397991 165397991 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 165397991 165397991 G T SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.262 p.P88T 0.988 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 68 0 0 45 26 36.6197 SHCBP1L 0 genome.wustl.edu 37 1 182873396 182873396 + Silent SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 182873396 182873396 T A SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known silent c.1506 p.I502 0.011 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 182 0 0 113 15 11.7188 KCNT2 0 genome.wustl.edu 37 1 196227467 196227467 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 196227467 196227467 C G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3068 p.R1023T 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 83 0 0 70 12 14.6341 CFHR3 0 genome.wustl.edu 37 1 196744033 196744033 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 196744033 196744033 A G SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.17 p.N6S 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 98 0 0 68 12 15 F13B 0 genome.wustl.edu 37 1 197019844 197019844 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 197019844 197019844 G A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1721 p.T574I 0.007 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 63 0 0 44 10 18.5185 KIF14 0 genome.wustl.edu 37 1 200571084 200571084 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 200571084 200571084 C T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.2092 p.A698T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 99 0 0 88 13 12.8713 PKP1 0 genome.wustl.edu 37 1 201291173 201291173 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 201291173 201291173 G A SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.1478 p.R493H 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 74 0 0 56 6 9.67742 PPP1R12B 0 genome.wustl.edu 37 1 202464542 202464542 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 202464542 202464542 C T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2267 p.S756L 0.157 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 93 0 0 48 10 17.2414 LRRN2 0 genome.wustl.edu 37 1 204587896 204587896 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 204587896 204587896 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1225 p.R409C 0.998 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 75 0 0 59 9 13.2353 GPR137B 0 genome.wustl.edu 37 1 236306163 236306163 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 236306163 236306163 T A SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.241 p.F81I 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 155 0 0 101 17 14.4068 RYR2 0 genome.wustl.edu 37 1 237838114 237838114 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 237838114 237838114 T A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8792 p.V2931E 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 37 0 0 19 7 26.9231 CDC20 0 genome.wustl.edu 37 1 43826794 43826794 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 43826794 43826794 G A SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1081 p.V361I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 76 0 0 56 4 6.66667 NRD1 0 genome.wustl.edu 37 1 52280263 52280263 + Nonsense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 52280263 52280263 G A SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known nonsense c.1783 p.Q595* 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 87 0 0 59 14 19.1781 GBF1 0 genome.wustl.edu 37 10 104136717 104136717 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 104136717 104136717 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.4311 p.G1437 0.324 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 116 1 0.854701 81 13 13.8298 SUFU 0 genome.wustl.edu 37 10 104377323 104377323 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 104377323 104377323 G A SNP SUFU ENST00000423559 human ensembl 74_37 +1 putative silent c.1434 p.G478 0.000 NULL pfam_SUFU_C,pfam_SUFU-like_domain - no_errors SUFU HGNC ENSG00000107882 23 0 0 13 3 18.75 VENTX 0 genome.wustl.edu 37 10 135053288 135053288 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 135053288 135053288 G T SNP VENTX ENST00000325980 human ensembl 74_37 +1 known missense c.350 p.S117I 0.998 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VENTX HGNC ENSG00000151650 50 0 0 27 8 22.8571 PCDH15 0 genome.wustl.edu 37 10 55826517 55826517 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 55826517 55826517 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2220 p.K740N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 94 0 0 66 8 10.8108 CCAR1 0 genome.wustl.edu 37 10 70509403 70509403 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 70509403 70509403 C T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1079 p.P360L 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 173 0 0 125 16 11.3475 MRPS16 0 genome.wustl.edu 37 10 75009431 75009431 + RNA SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 75009431 75009431 A G SNP MRPS16 ENST00000479005 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MRPS16 HGNC ENSG00000182180 22 0 0 15 3 16.6667 ITIH2 0 genome.wustl.edu 37 10 7771981 7771981 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 10 7771981 7771981 T A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.1346 p.F449Y 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 78 0 0 49 13 20.9677 TMEM225 0 genome.wustl.edu 37 11 123753982 123753982 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 123753982 123753982 A G SNP TMEM225 ENST00000375026 human ensembl 74_37 -1 known missense c.541 p.C181R 0.000 NULL NULL - no_errors TMEM225 HGNC ENSG00000204300 82 0 0 56 7 11.1111 OR10S1 0 genome.wustl.edu 37 11 123847713 123847713 + Missense_Mutation SNP A A C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 123847713 123847713 A C SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.686 p.V229G 0.036 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 88 0 0 66 10 13.1579 RAG1 0 genome.wustl.edu 37 11 36595009 36595009 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 36595009 36595009 C A SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.155 p.S52Y 0.004 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 125 0 0 91 15 14.1509 C11orf94 0 genome.wustl.edu 37 11 45928156 45928156 + Silent SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 45928156 45928156 G C SNP C11orf94 ENST00000449465 human ensembl 74_37 -1 known silent c.261 p.P87 0.099 NULL NULL - no_errors C11orf94 HGNC ENSG00000234776 127 0 0 62 14 18.4211 MS4A8 0 genome.wustl.edu 37 11 60476241 60476241 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 60476241 60476241 A G SNP MS4A8 ENST00000300226 human ensembl 74_37 +1 known missense c.521 p.Y174C 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A8 HGNC ENSG00000166959 91 0 0 58 12 17.1429 PHRF1 0 genome.wustl.edu 37 11 608501 608501 + Silent SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 608501 608501 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.3045 p.G1015 0.002 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 55 0 0 33 5 13.1579 RPLP0P2 0 genome.wustl.edu 37 11 61405082 61405082 + RNA SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 61405082 61405082 C T SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 75 0 0 46 10 17.8571 ARAP1 0 genome.wustl.edu 37 11 72422489 72422489 + Missense_Mutation SNP A A C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 72422489 72422489 A C SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.1078 p.F360V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 96 0 0 78 8 9.30233 OR2AT4 0 genome.wustl.edu 37 11 74800351 74800351 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 74800351 74800351 G T SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known missense c.408 p.H136Q 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 119 0 0 90 16 15.0943 ANO4 0 genome.wustl.edu 37 12 101520836 101520836 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 101520836 101520836 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.2856 p.N952 0.207 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 39 0 0 24 4 14.2857 OAS2 0 genome.wustl.edu 37 12 113424902 113424902 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 113424902 113424902 C T SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known silent c.237 p.L79 0.407 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 154 0 0 116 15 11.4504 NOS1 0 genome.wustl.edu 37 12 117658007 117658007 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 117658007 117658007 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.4043 p.G1348E 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-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 263 1 0.378788 229 34 12.9278 TMEM132B 0 genome.wustl.edu 37 12 125834316 125834316 + Missense_Mutation SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 125834316 125834316 T C SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.371 p.I124T 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 158 0 0 135 41 23.2955 GPR133 0 genome.wustl.edu 37 12 131466566 131466566 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 131466566 131466566 C T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.448 p.R150W 0.990 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 96 0 0 78 11 12.3596 LRMP 0 genome.wustl.edu 37 12 25254154 25254154 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 25254154 25254154 G A SNP LRMP ENST00000354454 human ensembl 74_37 +1 known missense c.784 p.V262I 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 91 0 0 59 10 14.4928 NACA 0 genome.wustl.edu 37 12 57110008 57110008 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 57110008 57110008 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.5306 p.A1769V 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 67 0 0 50 11 18.0328 B4GALNT1 0 genome.wustl.edu 37 12 58022543 58022543 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 58022543 58022543 G T SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.955 p.R319S 0.851 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 85 0 0 57 8 12.3077 ENSG00000255583 0 genome.wustl.edu 37 12 64078703 64078703 + RNA SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 64078703 64078703 C T SNP ENSG00000255583 ENST00000541353 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-415I12.2 Clone_based_vega_gene ENSG00000255583 47 0 0 16 8 33.3333 SYT1 0 genome.wustl.edu 37 12 79611374 79611374 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 79611374 79611374 C T SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known silent c.75 p.N25 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 82 0 0 53 4 7.01754 OTOGL 0 genome.wustl.edu 37 12 80750659 80750659 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 80750659 80750659 G A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.5957 p.R1986Q 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 34 0 0 31 4 11.4286 PLXNC1 0 genome.wustl.edu 37 12 94603463 94603463 + Nonsense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 12 94603463 94603463 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known nonsense c.1537 p.R513* 0.989 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 130 0 0 72 16 18.1818 PCDH20 0 genome.wustl.edu 37 13 61987146 61987146 + Silent SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 13 61987146 61987146 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.1086 p.K362 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 170 0 0 93 16 14.6789 SLITRK6 0 genome.wustl.edu 37 13 86368485 86368485 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 13 86368485 86368485 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2159 p.S720N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 395 0 0 320 54 14.4385 NPAS3 0 genome.wustl.edu 37 14 34269261 34269261 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 14 34269261 34269261 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1748 p.S583L 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 23 0 0 13 4 23.5294 SYNE2 0 genome.wustl.edu 37 14 64556322 64556322 + Missense_Mutation SNP T T G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 14 64556322 64556322 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.11701 p.S3901A 0.995 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 57 0 0 37 19 33.9286 COX16 0 genome.wustl.edu 37 14 70826374 70826374 + RNA SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 14 70826374 70826374 C T SNP COX16 ENST00000557612 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX16 HGNC ENSG00000133983 28 0 0 31 4 11.4286 STON2 0 genome.wustl.edu 37 14 81744110 81744110 + Missense_Mutation SNP T T G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 14 81744110 81744110 T G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.1545 p.K515N 1.000 pirsf_Stonin,pfscan_SHD pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 170 0 0 97 38 28.1481 SERPINA1 0 genome.wustl.edu 37 14 94847443 94847443 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 14 94847443 94847443 C T SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known missense c.682 p.E228K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 53 0 0 20 12 37.5 SNORD116-9 0 genome.wustl.edu 37 15 25318336 25318336 + RNA SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 15 25318336 25318336 G A SNP SNORD116-9 ENST00000384000 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors SNORD116-9 HGNC ENSG00000206727 240 0 0 137 20 12.7389 DUOX1 0 genome.wustl.edu 37 15 45428813 45428813 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 15 45428813 45428813 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1012 p.V338I 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 97 0 0 77 9 10.4651 MAP2K1 0 genome.wustl.edu 37 15 66729154 66729154 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 15 66729154 66729154 G C SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.362 p.C121S 1.000 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 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 77 0 0 74 18 19.5652 PEX11A 0 genome.wustl.edu 37 15 90226909 90226909 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 15 90226909 90226909 C T SNP PEX11A ENST00000300056 human ensembl 74_37 -1 known missense c.443 p.R148Q 0.000 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 227 0 0 177 19 9.69388 KIAA0556 0 genome.wustl.edu 37 16 27752044 27752044 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 27752044 27752044 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.2426 p.R809Q 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 59 0 0 61 13 17.5676 MVP 0 genome.wustl.edu 37 16 29853242 29853242 + Silent SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 29853242 29853242 C A SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.1443 p.V481 1.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 55 0 0 43 7 14 ENSG00000261405 0 genome.wustl.edu 37 16 33365442 33365442 + RNA SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 33365442 33365442 G T SNP ENSG00000261405 ENST00000568520 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-23E10.4 Clone_based_vega_gene ENSG00000261405 37 0 0 16 4 20 DDX28 0 genome.wustl.edu 37 16 68055970 68055970 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 68055970 68055970 G A SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.1136 p.A379V 0.106 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 105 0 0 80 13 13.9785 WDR90 0 genome.wustl.edu 37 16 711480 711480 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 711480 711480 G T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.3652 p.D1218Y 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 111 0 0 53 10 15.873 CHST6 0 genome.wustl.edu 37 16 75512895 75512895 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 75512895 75512895 G A SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.832 p.R278W 0.993 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 95 0 0 65 8 10.9589 CCDC78 0 genome.wustl.edu 37 16 775269 775269 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 16 775269 775269 G C SNP CCDC78 ENST00000293889 human ensembl 74_37 -1 known missense c.460 p.P154A 0.000 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 149 0 0 90 11 10.8911 MYH13 0 genome.wustl.edu 37 17 10216579 10216579 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 10216579 10216579 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.4077 p.A1359 0.992 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 243 0 0 138 17 10.9677 COX10 0 genome.wustl.edu 37 17 13980159 13980159 + Silent SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 13980159 13980159 A G SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.285 p.E95 0.003 pirsf_Protohaem_IX_farnesylTrfase_mt pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 117 0 0 63 19 23.1707 KRTAP1-5 0 genome.wustl.edu 37 17 39183049 39183049 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 39183049 39183049 C T SNP KRTAP1-5 ENST00000361883 human ensembl 74_37 -1 known missense c.359 p.R120H 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-5 HGNC ENSG00000221852 38 0 0 43 8 15.6863 SGCA 0 genome.wustl.edu 37 17 48252711 48252711 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 48252711 48252711 C T SNP SGCA ENST00000513821 human ensembl 74_37 +1 known missense c.868 p.P290S 0.998 NULL pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 40 0 0 13 10 43.4783 FBF1 0 genome.wustl.edu 37 17 73915948 73915948 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 73915948 73915948 T A SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.1897 p.I633F 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 73 0 0 51 10 16.3934 RPTOR 0 genome.wustl.edu 37 17 78896529 78896529 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 78896529 78896529 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.2526 p.T842 0.006 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 10 0 0 5 5 50 RFNG 0 genome.wustl.edu 37 17 80006957 80006957 + Missense_Mutation SNP A A C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 80006957 80006957 A C SNP RFNG ENST00000310496 human ensembl 74_37 -1 known missense c.864 p.H288Q 0.009 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors RFNG HGNC ENSG00000169733 70 0 0 27 3 10 PIK3R5 0 genome.wustl.edu 37 17 8792137 8792137 + Nonsense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 8792137 8792137 C A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known nonsense c.967 p.E323* 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 51 0 0 32 6 15.7895 DLGAP1 0 genome.wustl.edu 37 18 3742442 3742442 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 18 3742442 3742442 A G SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.1243 p.S415P 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 56 0 0 44 8 15.3846 TNFRSF11A 0 genome.wustl.edu 37 18 60036280 60036280 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 18 60036280 60036280 C T SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known missense c.1130 p.P377L 1.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 99 0 0 40 12 23.0769 SERPINB7 0 genome.wustl.edu 37 18 61471529 61471529 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 18 61471529 61471529 C T SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known missense c.803 p.T268I 0.005 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 53 0 0 48 5 9.43396 LRRC30 0 genome.wustl.edu 37 18 7231917 7231917 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 18 7231917 7231917 G A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.781 p.A261T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 202 0 0 80 96 54.5455 CYP4F22 0 genome.wustl.edu 37 19 15636337 15636337 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 15636337 15636337 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.190 p.R64W 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 61 0 0 28 14 33.3333 ZNF626 0 genome.wustl.edu 37 19 20808009 20808009 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 20808009 20808009 C A SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.674 p.G225V 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 79 0 0 68 20 22.7273 ZNF429 0 genome.wustl.edu 37 19 21720043 21720043 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 21720043 21720043 C T SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel silent c.1188 p.P396 0.963 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 55 0 0 40 9 18.3673 SF3A2 0 genome.wustl.edu 37 19 2247812 2247812 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 2247812 2247812 C G SNP SF3A2 ENST00000221494 human ensembl 74_37 +1 known missense c.662 p.P221R 0.994 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 124 0 0 53 8 13.1148 CACTIN 0 genome.wustl.edu 37 19 3623842 3623842 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 3623842 3623842 C T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known silent c.282 p.T94 0.016 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 44 0 0 28 5 15.1515 TBCB 0 genome.wustl.edu 37 19 36611658 36611658 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 36611658 36611658 C T SNP TBCB ENST00000221855 human ensembl 74_37 +1 known missense c.305 p.S102F 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 78 0 0 72 9 11.1111 LRFN1 0 genome.wustl.edu 37 19 39805434 39805434 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 39805434 39805434 C T SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known silent c.543 p.A181 0.878 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 25 0 0 15 5 25 EGLN2 0 genome.wustl.edu 37 19 41307124 41307124 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 41307124 41307124 G A SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known missense c.647 p.G216D 0.957 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 150 0 0 101 14 12.1739 LILRB5 0 genome.wustl.edu 37 19 54760505 54760505 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 54760505 54760505 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.202 p.A68T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 261 1 0.381679 196 43 17.9916 NLRP7 0 genome.wustl.edu 37 19 55447693 55447693 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 55447693 55447693 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.2320 p.R774C 0.000 NULL 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 NLRP7 HGNC ENSG00000167634 48 0 0 27 9 25 ZNF417 0 genome.wustl.edu 37 19 58420784 58420784 + Nonsense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 19 58420784 58420784 G A SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known nonsense c.862 p.R288* 0.018 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 219 0 0 175 29 14.2157 ZC3H8 0 genome.wustl.edu 37 2 112991747 112991747 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 112991747 112991747 G A SNP ZC3H8 ENST00000272570 human ensembl 74_37 -1 known missense c.571 p.R191C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 20 0 0 28 3 9.67742 POLR1B 0 genome.wustl.edu 37 2 113322007 113322007 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 113322007 113322007 C T SNP POLR1B ENST00000448770 human ensembl 74_37 +1 known missense c.242 p.T81M 0.998 NULL NULL - no_errors POLR1B HGNC ENSG00000125630 137 0 0 85 16 15.8416 LRP1B 0 genome.wustl.edu 37 2 141819691 141819691 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 141819691 141819691 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1165 p.L389I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,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 146 0 0 103 22 17.6 KCNH7 0 genome.wustl.edu 37 2 163393500 163393500 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 163393500 163393500 G A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.398 p.T133M 0.999 superfamily_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 184 0 0 97 47 32.6389 TTN 0 genome.wustl.edu 37 2 179402500 179402500 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 179402500 179402500 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91730 p.R30577L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,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 64 0 0 48 6 11.1111 TTN 0 genome.wustl.edu 37 2 179452842 179452842 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 179452842 179452842 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.55588 p.G18530R 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 75 0 0 46 18 28.125 TTN 0 genome.wustl.edu 37 2 179483457 179483457 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 179483457 179483457 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39116 p.P13039H 0.833 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 57 0 0 45 4 8.16327 CALCRL 0 genome.wustl.edu 37 2 188225342 188225342 + Missense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 188225342 188225342 T A SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.764 p.Y255F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 73 0 0 57 5 8.06452 UNC80 0 genome.wustl.edu 37 2 210642188 210642188 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 210642188 210642188 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.505 p.E169K 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 159 0 0 77 41 34.7458 CCDC108 0 genome.wustl.edu 37 2 219875581 219875581 + Silent SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 219875581 219875581 G T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.4095 p.G1365 0.006 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 49 0 0 19 11 36.6667 PAX3 0 genome.wustl.edu 37 2 223086025 223086025 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 223086025 223086025 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.874 p.G292R 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 232 0 0 167 73 30.4167 MFSD2B 0 genome.wustl.edu 37 2 24240392 24240392 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 24240392 24240392 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known silent c.615 p.G205 0.257 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 16 0 0 10 3 23.0769 SRD5A2 0 genome.wustl.edu 37 2 31754396 31754396 + RNA SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 31754396 31754396 G A SNP SRD5A2 ENST00000233139 human ensembl 74_37 -1 known rna NULL NULL 0.622 - - - no_errors SRD5A2 HGNC ENSG00000049319 35 0 0 31 6 16.2162 PLEKHH2 0 genome.wustl.edu 37 2 43922307 43922307 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 43922307 43922307 G A SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.446 p.R149H 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 23 0 0 26 4 13.3333 FAM110C 0 genome.wustl.edu 37 2 46121 46121 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 46121 46121 C G SNP FAM110C ENST00000327669 human ensembl 74_37 -1 known missense c.265 p.A89P 0.467 NULL NULL - no_errors FAM110C HGNC ENSG00000184731 23 0 0 19 3 13.6364 USP34 0 genome.wustl.edu 37 2 61493232 61493232 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 61493232 61493232 C A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.5504 p.C1835F 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 87 0 0 50 12 19.3548 EHBP1 0 genome.wustl.edu 37 2 63085542 63085542 + Missense_Mutation SNP A A T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 63085542 63085542 A T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.636 p.E212D 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 98 0 0 67 13 16.25 SMYD5 0 genome.wustl.edu 37 2 73446046 73446046 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 2 73446046 73446046 C T SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.154 p.R52W 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 80 0 0 62 5 7.46269 SGK2 0 genome.wustl.edu 37 20 42213598 42213598 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 42213598 42213598 C T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.1226 p.S409L 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 176 0 0 180 23 11.33 CYP24A1 0 genome.wustl.edu 37 20 52779221 52779221 + RNA SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 52779221 52779221 T C SNP CYP24A1 ENST00000487593 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors CYP24A1 HGNC ENSG00000019186 60 0 0 64 10 13.5135 CHGB 0 genome.wustl.edu 37 20 5903632 5903632 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 5903632 5903632 C A SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.842 p.P281H 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 25 0 0 21 4 16 CHGB 0 genome.wustl.edu 37 20 5905657 5905657 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 5905657 5905657 C G SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1996 p.L666V 1.000 pfam_Granin,prints_Chromogranin_AB pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 48 0 0 30 9 23.0769 COL20A1 0 genome.wustl.edu 37 20 61956812 61956812 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 61956812 61956812 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.3410 p.G1137E 1.000 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 48 0 0 60 6 9.09091 OPRL1 0 genome.wustl.edu 37 20 62729814 62729814 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 20 62729814 62729814 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.775 p.R259W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 125 0 0 124 8 6.06061 SON 0 genome.wustl.edu 37 21 34927514 34927514 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 21 34927514 34927514 C T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.5977 p.R1993C 0.990 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 84 0 0 41 15 26.7857 UBASH3A 0 genome.wustl.edu 37 21 43829575 43829575 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 21 43829575 43829575 C A SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.212 p.P71H 1.000 superfamily_UBA-like pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 136 0 0 85 18 17.4757 RRP1B 0 genome.wustl.edu 37 21 45096660 45096660 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 21 45096660 45096660 G C SNP RRP1B ENST00000340648 human ensembl 74_37 +1 known missense c.661 p.V221L 0.304 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 89 0 0 62 7 10.1449 ARVCF 0 genome.wustl.edu 37 22 19969506 19969506 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 22 19969506 19969506 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.319 p.V107M 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 69 0 0 42 9 17.6471 RTDR1 0 genome.wustl.edu 37 22 23482460 23482460 + Silent SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 22 23482460 23482460 A G SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known silent c.148 p.L50 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 45 0 0 35 4 10.2564 MMP11 0 genome.wustl.edu 37 22 24125616 24125616 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 22 24125616 24125616 G A SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known missense c.1352 p.R451H 0.313 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 101 0 0 54 10 15.625 GAS2L1 0 genome.wustl.edu 37 22 29708172 29708172 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 22 29708172 29708172 G T SNP GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative missense c.1051 p.G351C 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 211 0 0 99 21 17.5 DNAJC13 0 genome.wustl.edu 37 3 132244599 132244599 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 132244599 132244599 C T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.6206 p.A2069V 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 117 0 0 77 12 13.4831 XPC 0 genome.wustl.edu 37 3 14200141 14200141 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 14200141 14200141 C T SNP XPC ENST00000285021 human ensembl 74_37 -1 known silent c.1242 p.Q414 0.001 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 231 0 0 120 26 17.8082 CPB1 0 genome.wustl.edu 37 3 148545851 148545851 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 148545851 148545851 C A SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.134 p.A45D 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 82 0 0 55 10 15.3846 IGSF10 0 genome.wustl.edu 37 3 151155396 151155396 + Missense_Mutation SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 151155396 151155396 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.6953 p.E2318G 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 157 0 0 111 12 9.7561 SI 0 genome.wustl.edu 37 3 164783102 164783102 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 164783102 164783102 C A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.754 p.D252Y 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 66 0 0 47 7 12.963 GHSR 0 genome.wustl.edu 37 3 172165569 172165569 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 172165569 172165569 A G SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.635 p.V212A 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 79 0 0 48 9 15.7895 ALG3 0 genome.wustl.edu 37 3 183963008 183963008 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 183963008 183963008 C A SNP ALG3 ENST00000397676 human ensembl 74_37 -1 known missense c.583 p.G195C 0.991 pfam_Glycosyltransferase_ALG3 pfam_Glycosyltransferase_ALG3 - no_errors ALG3 HGNC ENSG00000214160 40 0 0 48 6 11.1111 HIGD1A 0 genome.wustl.edu 37 3 42827591 42827591 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 42827591 42827591 G T SNP HIGD1A ENST00000452906 human ensembl 74_37 -1 known missense c.203 p.T68N 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD1A HGNC ENSG00000181061 97 0 0 69 12 14.8148 ENSG00000235236 0 genome.wustl.edu 37 3 49017746 49017746 + RNA SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 49017746 49017746 T C SNP ENSG00000235236 ENST00000415982 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-131K19.1 Clone_based_vega_gene ENSG00000235236 91 0 0 42 19 31.1475 SNTN 0 genome.wustl.edu 37 3 63645450 63645450 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 63645450 63645450 G A SNP SNTN ENST00000343837 human ensembl 74_37 +1 known silent c.195 p.L65 1.000 NULL NULL - no_errors SNTN HGNC ENSG00000188817 209 0 0 76 48 38.7097 VGLL3 0 genome.wustl.edu 37 3 87027812 87027812 + Silent SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 3 87027812 87027812 G T SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known silent c.267 p.V89 1.000 pfam_Vg_Tdu pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 96 0 0 60 14 18.9189 PDE5A 0 genome.wustl.edu 37 4 120442088 120442088 + Splice_Site SNP A A C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 120442088 120442088 A C SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known splice_site c.1905+2 e13+2 1.000 - - - no_errors PDE5A HGNC ENSG00000138735 112 0 0 87 15 14.7059 KIAA1109 0 genome.wustl.edu 37 4 123260416 123260416 + Nonsense_Mutation SNP A A T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 123260416 123260416 A T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known nonsense c.12205 p.K4069* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 102 0 0 59 13 18.0556 ANKRD50 0 genome.wustl.edu 37 4 125590991 125590991 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 125590991 125590991 C G SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3441 p.Q1147H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 265 0 0 158 32 16.8421 PCDH18 0 genome.wustl.edu 37 4 138452108 138452108 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 138452108 138452108 C A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1135 p.V379F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 93 0 0 49 15 23.4375 SCFD2 0 genome.wustl.edu 37 4 53752026 53752026 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 53752026 53752026 C T SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.1850 p.R617Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 86 0 0 47 5 9.61538 KIT 0 genome.wustl.edu 37 4 55589833 55589833 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 4 55589833 55589833 G C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1315 p.D439H 0.597 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 77 0 0 31 12 27.907 KIF20A 0 genome.wustl.edu 37 5 137521738 137521738 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 137521738 137521738 G A SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known silent c.2214 p.Q738 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 42 0 0 32 4 11.1111 CXXC5 0 genome.wustl.edu 37 5 139060694 139060694 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 139060694 139060694 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.586 p.V196M 0.995 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 63 0 0 36 21 36.8421 PCDHA9 0 genome.wustl.edu 37 5 140230060 140230060 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140230060 140230060 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1980 p.T660 0.947 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 99 0 0 98 22 18.3333 PCDHB1 0 genome.wustl.edu 37 5 140431602 140431602 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140431602 140431602 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.547 p.R183C 0.058 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 84 0 0 67 9 11.8421 PCDHB3 0 genome.wustl.edu 37 5 140481581 140481581 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140481581 140481581 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1348 p.A450T 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 293 0 0 185 77 29.3893 PCDHB5 0 genome.wustl.edu 37 5 140515027 140515027 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140515027 140515027 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.11 p.A4V 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 72 0 0 67 9 11.8421 PCDHGA2 0 genome.wustl.edu 37 5 140720421 140720421 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140720421 140720421 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1883 p.T628M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 166 0 0 89 49 35.5072 PCDHGB7 0 genome.wustl.edu 37 5 140798932 140798932 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 140798932 140798932 G A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1506 p.S502 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 139 0 0 100 30 23.0769 GRIA1 0 genome.wustl.edu 37 5 153175110 153175110 + Missense_Mutation SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 153175110 153175110 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2375 p.Y792C 1.000 pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 50 0 0 34 4 10.5263 FAM134B 0 genome.wustl.edu 37 5 16477850 16477850 + Missense_Mutation SNP G G C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 16477850 16477850 G C SNP FAM134B ENST00000306320 human ensembl 74_37 -1 known missense c.921 p.D307E 0.153 NULL pfam_Reticulon - no_errors FAM134B HGNC ENSG00000154153 96 0 0 60 21 25.9259 AMACR 0 genome.wustl.edu 37 5 34008134 34008134 + RNA SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 34008134 34008134 C T SNP AMACR ENST00000514195 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors AMACR HGNC ENSG00000242110 41 0 0 18 5 21.7391 HCN1 0 genome.wustl.edu 37 5 45262712 45262712 + Missense_Mutation SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 45262712 45262712 T C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1984 p.T662A 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 93 0 0 47 13 21.6667 PAPD7 0 genome.wustl.edu 37 5 6752990 6752990 + Missense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 5 6752990 6752990 G A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1274 p.R425K 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 80 0 0 48 8 14.2857 TBC1D32 0 genome.wustl.edu 37 6 121655563 121655563 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 121655563 121655563 G T SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known missense c.14 p.S5Y 0.986 NULL NULL - no_errors TBC1D32 HGNC ENSG00000146350 39 0 0 30 5 14.2857 PTPRK 0 genome.wustl.edu 37 6 128326280 128326280 + Nonsense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 128326280 128326280 C A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known nonsense c.2443 p.E815* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 60 0 0 41 5 10.8696 ATXN1 0 genome.wustl.edu 37 6 16326835 16326835 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 16326835 16326835 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.1707 p.T569 0.059 superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 73 0 0 90 5 5.26316 PGBD1 0 genome.wustl.edu 37 6 28270052 28270052 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 28270052 28270052 G A SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known silent c.2421 p.L807 0.063 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 59 0 0 53 11 17.1875 KIFC1 0 genome.wustl.edu 37 6 33373066 33373066 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 33373066 33373066 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known silent c.1194 p.A398 0.994 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIFC1 HGNC ENSG00000237649 165 0 0 117 21 15.2174 BTBD9 0 genome.wustl.edu 37 6 38561911 38561911 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 38561911 38561911 C T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known silent c.378 p.E126 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 397 0 0 329 45 12.0321 KIF6 0 genome.wustl.edu 37 6 39398879 39398879 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 39398879 39398879 G T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1704 p.D568E 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 55 0 0 32 5 13.5135 USP49 0 genome.wustl.edu 37 6 41771588 41771588 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 41771588 41771588 G T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.1517 p.T506K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 122 0 0 137 221 61.7318 ENSG00000271754 0 genome.wustl.edu 37 6 43487420 43487420 + RNA SNP A A C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 43487420 43487420 A C SNP ENSG00000271754 ENST00000607571 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-337H4.9 Clone_based_vega_gene ENSG00000271754 134 0 0 121 444 78.5841 RUNX2 0 genome.wustl.edu 37 6 45405709 45405709 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 45405709 45405709 C T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.810 p.T270 0.923 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 190 0 0 240 20 7.69231 HUS1B 0 genome.wustl.edu 37 6 656555 656555 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 6 656555 656555 G T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known missense c.390 p.H130Q 0.001 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 56 0 0 20 3 13.0435 NRCAM 0 genome.wustl.edu 37 7 107790220 107790220 + RNA SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 107790220 107790220 T C SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.124 - - - no_errors NRCAM HGNC ENSG00000091129 43 0 0 32 10 23.8095 CREB3L2 0 genome.wustl.edu 37 7 137565290 137565290 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 137565290 137565290 C T SNP CREB3L2 ENST00000330387 human ensembl 74_37 -1 known missense c.1495 p.A499T 0.774 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 37 0 0 30 6 16.6667 DNAH11 0 genome.wustl.edu 37 7 21630827 21630827 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 21630827 21630827 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2299 p.V767L 0.995 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 46 0 0 43 12 21.8182 GLI3 0 genome.wustl.edu 37 7 42065827 42065827 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 42065827 42065827 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1213 p.V405I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 33 0 0 28 5 15.1515 C1GALT1 0 genome.wustl.edu 37 7 7283247 7283247 + Silent SNP T T G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 7283247 7283247 T G SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known silent c.981 p.R327 1.000 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 170 0 0 129 36 21.8182 KIAA1324L 0 genome.wustl.edu 37 7 86542517 86542517 + Nonsense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 86542517 86542517 T A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known nonsense c.1735 p.R579* 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 77 0 0 53 5 8.62069 TAF6 0 genome.wustl.edu 37 7 99711237 99711237 + Splice_Site SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 99711237 99711237 A G SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known splice_site c.397+2 e3+2 0.997 - - - no_errors TAF6 HGNC ENSG00000106290 100 0 0 51 29 36.25 UBR5 0 genome.wustl.edu 37 8 103297906 103297906 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 103297906 103297906 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.5319 p.N1773 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 96 0 0 76 10 11.6279 TNFRSF11B 0 genome.wustl.edu 37 8 119941043 119941043 + Nonsense_Mutation SNP T T A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 119941043 119941043 T A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known nonsense c.526 p.K176* 0.979 pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 193 0 0 137 17 11.039 NEFM 0 genome.wustl.edu 37 8 24771915 24771915 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 24771915 24771915 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.609 p.I203 1.000 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 42 0 0 29 6 17.1429 CHRNA2 0 genome.wustl.edu 37 8 27320871 27320871 + Silent SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 27320871 27320871 G A SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known silent c.1089 p.P363 0.981 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 72 0 0 39 17 30.3571 POTEA 0 genome.wustl.edu 37 8 43197365 43197365 + RNA SNP T T C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 43197365 43197365 T C SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors POTEA HGNC ENSG00000188877 94 0 0 79 11 12.2222 CRISPLD1 0 genome.wustl.edu 37 8 75927084 75927084 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 75927084 75927084 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.664 p.R222W 0.873 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 36 0 0 20 12 37.5 KCNS2 0 genome.wustl.edu 37 8 99441398 99441398 + Silent SNP A A G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 99441398 99441398 A G SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.1191 p.A397 0.093 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv2 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 163 0 0 113 17 13.0769 OR1L1 0 genome.wustl.edu 37 9 125424489 125424489 + Missense_Mutation SNP G G T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 125424489 125424489 G T SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.645 p.Q215H 0.000 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 OR1L1 HGNC ENSG00000173679 378 0 0 272 29 9.63455 PCSK5 0 genome.wustl.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 78790192 78790192 C G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.2047 p.R683G 0.006 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 13 0 0 12 3 20 AGTPBP1 0 genome.wustl.edu 37 9 88207528 88207528 + Missense_Mutation SNP C C A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 88207528 88207528 C A SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2551 p.D851Y 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 174 0 0 130 16 10.9589 ROR2 0 genome.wustl.edu 37 9 94487066 94487066 + Silent SNP C C G TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 94487066 94487066 C G SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known silent c.1710 p.P570 0.013 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 62 0 0 43 8 15.6863 PTCH1 0 genome.wustl.edu 37 9 98232138 98232138 + Nonsense_Mutation SNP G G A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 98232138 98232138 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known nonsense c.1804 p.R602* 0.998 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 135 0 0 92 29 23.9669 CT47B1 0 genome.wustl.edu 37 X 120009290 120009290 + Missense_Mutation SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e X 120009290 120009290 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.235 p.G79R 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 30 0 0 14 14 50 USP26 0 genome.wustl.edu 37 X 132161673 132161673 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e X 132161673 132161673 C T SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.576 p.E192 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 57 0 0 59 7 10.6061 P2RY10 0 genome.wustl.edu 37 X 78216284 78216284 + Silent SNP C C T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e X 78216284 78216284 C T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known silent c.267 p.L89 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 90 0 0 77 30 28.0374 PIK3R3 0 genome.wustl.edu 37 1 46521725 46521725 + RNA DEL T T - TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 1 46521725 46521725 T - DEL PIK3R3 ENST00000488808 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors PIK3R3 HGNC ENSG00000117461 15 0 0 8 2 20 KDM2A 0 genome.wustl.edu 37 11 67018079 67018084 + In_Frame_Del DEL GAGGAG GAGGAG - TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 GAGGAG GAGGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 11 67018079 67018084 GAGGAG - DEL KDM2A ENST00000529006 human ensembl 74_37 +1 known in_frame_del c.2578_2583 p.EE863in_frame_del 0.986:0.996:0.994:1.000:1.000:0.998 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 37 0 0 30 7 18.9189 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + RNA INS - - C TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 16 0 0 11 2 15.3846 ACACA 0 genome.wustl.edu 37 17 35696783 35696784 + Frame_Shift_Ins INS - - T TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 35696783 35696784 - T INS ACACA ENST00000353139 human ensembl 74_37 -1 known frame_shift_ins c.66_65 p.T23fs 1.000:1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 120 0 0 80 17 17.5258 TP53 0 genome.wustl.edu 37 17 7577606 7577606 + Frame_Shift_Del DEL A A - TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 17 7577606 7577606 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.675 p.G226fs 0.044 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 80 0 0 34 15 30.6122 KMT2E 0 genome.wustl.edu 37 7 104715217 104715218 + Frame_Shift_Ins INS - - A TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 7 104715217 104715218 - A INS KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_ins c.684_685 p.S230fs 1.000:1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 76 0 0 72 12 14.2857 UBR5 0 genome.wustl.edu 37 8 103324612 103324614 + In_Frame_Del DEL AGA AGA - TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 8 103324612 103324614 AGA - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known in_frame_del c.2109_2107 p.S703in_frame_del 0.961:1.000:1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 72 0 0 46 18 28.125 BICD2 0 genome.wustl.edu 37 9 95477513 95477514 + Frame_Shift_Ins INS - - ACAG TCGA-BR-8683-01A-11D-2394-08 TCGA-BR-8683-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cf96d6-0371-45d9-8e5e-fc12ba2bd5c8 aebed280-af70-496f-a1b4-f441f6e6a82e 9 95477513 95477514 - ACAG INS BICD2 ENST00000356884 human ensembl 74_37 -1 known frame_shift_ins c.2491_2490 p.A830fs 0.943:0.222 NULL pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 56 0 0 37 4 9.7561