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 COL11A1 0 genome.wustl.edu 37 1 103488310 103488310 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 103488310 103488310 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.1269 p.I423 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 109 0 0 41 9 18 MAN1A2 0 genome.wustl.edu 37 1 117963257 117963257 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 117963257 117963257 C A SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known missense c.841 p.L281I 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 111 0 0 32 5 13.5135 HSD3B2 0 genome.wustl.edu 37 1 119964589 119964589 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 119964589 119964589 G A SNP HSD3B2 ENST00000369416 human ensembl 74_37 +1 known silent c.465 p.P155 0.705 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 158 0 0 53 15 22.0588 ENSG00000227082 0 genome.wustl.edu 37 1 121139102 121139102 + RNA SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 121139102 121139102 G A SNP ENSG00000227082 ENST00000417218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AL592494.5 Clone_based_vega_gene ENSG00000227082 19 0 0 2 3 60 PRAMEF12 0 genome.wustl.edu 37 1 12837182 12837182 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 12837182 12837182 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.892 p.V298I 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 283 0 0 79 26 24.7619 PRAMEF1 0 genome.wustl.edu 37 1 12855952 12855952 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 12855952 12855952 C T SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1232 p.T411M 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 497 0 0 171 11 6.04396 FMO5 0 genome.wustl.edu 37 1 146696558 146696558 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 146696558 146696558 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.64 p.C22R 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 179 0 0 79 14 15.0538 ADAMTSL4 0 genome.wustl.edu 37 1 150532570 150532570 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 150532570 150532570 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known silent c.3192 p.P1064 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 195 0 0 79 19 19.3878 FLG 0 genome.wustl.edu 37 1 152277422 152277422 + Nonsense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 152277422 152277422 T A SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.9940 p.R3314* 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 898 1 0.111235 505 88 14.8398 FLG 0 genome.wustl.edu 37 1 152285533 152285533 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 152285533 152285533 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1829 p.G610E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 472 1 0.211416 204 145 41.5473 DEDD 0 genome.wustl.edu 37 1 161092952 161092952 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 161092952 161092952 G A SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.493 p.R165W 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 150 1 0.662252 70 29 29.2929 ATP13A2 0 genome.wustl.edu 37 1 17323520 17323520 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 17323520 17323520 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.1190 p.R397H 0.757 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 52 0 0 11 5 31.25 SLC9C2 0 genome.wustl.edu 37 1 173556830 173556830 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 173556830 173556830 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.497 p.R166H 0.021 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 100 0 0 38 14 26.9231 SEC16B 0 genome.wustl.edu 37 1 177902725 177902725 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 177902725 177902725 C T SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.2618 p.S873N 0.000 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 77 0 0 40 5 11.1111 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp 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 298 0 0 104 32 23.5294 CR1 0 genome.wustl.edu 37 1 207697156 207697156 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 207697156 207697156 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.688 p.P230S 0.903 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 CR1 HGNC ENSG00000203710 45 0 0 65 21 24.4186 CENPF 0 genome.wustl.edu 37 1 214819047 214819047 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 214819047 214819047 A G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6134 p.Q2045R 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 155 0 0 61 48 44.0367 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 341 0 0 73 37 33.6364 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 161 1 0.617284 45 28 38.3562 ZNF124 0 genome.wustl.edu 37 1 247320073 247320073 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 247320073 247320073 T A SNP ZNF124 ENST00000543802 human ensembl 74_37 -1 known missense c.851 p.H284L 1.000 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 ZNF124 HGNC ENSG00000196418 106 0 0 79 26 24.7619 OR2T1 0 genome.wustl.edu 37 1 248569964 248569964 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 248569964 248569964 G T SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.669 p.E223D 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 104 0 0 55 31 36.0465 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 14 0 0 5 8 61.5385 LRRC7 0 genome.wustl.edu 37 1 70504932 70504932 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 70504932 70504932 C A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3311 p.A1104E 0.950 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 216 1 0.460829 64 28 30.4348 SLC45A1 0 genome.wustl.edu 37 1 8390936 8390936 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 8390936 8390936 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.1485 p.D495 0.001 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 197 0 0 53 14 20.8955 CLCA4 0 genome.wustl.edu 37 1 87043587 87043587 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 87043587 87043587 G T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.1954 p.A652S 1.000 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 35 0 0 15 3 16.6667 CRTAC1 0 genome.wustl.edu 37 10 99625319 99625319 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 10 99625319 99625319 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.1972 p.E658K 0.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 72 0 0 17 2 10.5263 OSBPL5 0 genome.wustl.edu 37 11 3115056 3115056 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 11 3115056 3115056 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.1729 p.G577R 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 41 0 0 9 7 43.75 OR4A47 0 genome.wustl.edu 37 11 48510483 48510483 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 11 48510483 48510483 G A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.139 p.V47I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 42 0 0 30 18 37.5 OR5M3 0 genome.wustl.edu 37 11 56237295 56237295 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 11 56237295 56237295 G A SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.679 p.R227C 0.044 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 118 0 0 23 21 47.7273 DNAH10 0 genome.wustl.edu 37 12 124416550 124416550 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 124416550 124416550 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.12837 p.I4279 0.022 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 115 0 0 39 22 36.0656 ABCC9 0 genome.wustl.edu 37 12 22001093 22001093 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 22001093 22001093 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2857 p.E953K 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 89 0 0 27 4 12.9032 CACNA1C 0 genome.wustl.edu 37 12 2788847 2788847 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 2788847 2788847 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.5329 p.R1777C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 49 0 0 6 5 45.4545 C12orf40 0 genome.wustl.edu 37 12 40114807 40114807 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 40114807 40114807 C T SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.1713 p.C571 0.015 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 108 0 0 39 20 33.8983 CNTN1 0 genome.wustl.edu 37 12 41387064 41387064 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 41387064 41387064 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.2106 p.D702 0.985 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 53 0 0 27 6 18.1818 VWF 0 genome.wustl.edu 37 12 6143984 6143984 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 6143984 6143984 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.2555 p.Q852R 0.997 pirsf_VWF,smart_VWC_out,smart_VWF_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 53 0 0 21 4 16 SRGAP1 0 genome.wustl.edu 37 12 64521659 64521659 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 64521659 64521659 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.2559 p.E853 0.909 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 161 0 0 60 16 21.0526 ACRBP 0 genome.wustl.edu 37 12 6748124 6748124 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 6748124 6748124 C T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.1505 p.R502Q 0.081 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 182 0 0 45 10 18.1818 CDCA3 0 genome.wustl.edu 37 12 6958779 6958779 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 6958779 6958779 C G SNP CDCA3 ENST00000538862 human ensembl 74_37 -1 known missense c.494 p.S165T 1.000 NULL NULL - no_errors CDCA3 HGNC ENSG00000111665 238 0 0 56 29 34.1176 TMTC2 0 genome.wustl.edu 37 12 83251144 83251144 + Missense_Mutation SNP T T G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 12 83251144 83251144 T G SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.439 p.F147V 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 89 0 0 58 13 18.3099 TUBGCP3 0 genome.wustl.edu 37 13 113212621 113212621 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 13 113212621 113212621 C T SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.437 p.R146Q 0.997 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 92 0 0 16 7 30.4348 NUPL1 0 genome.wustl.edu 37 13 25883397 25883397 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 13 25883397 25883397 C T SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.263 p.T88I 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 52 0 0 11 10 47.619 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 133 0 0 23 23 50 MIR380 0 genome.wustl.edu 37 14 101491392 101491392 + RNA SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 14 101491392 101491392 G A SNP MIR380 ENST00000362112 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors MIR380 HGNC ENSG00000198982 23 0 0 14 6 30 PLD4 0 genome.wustl.edu 37 14 105398406 105398406 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 14 105398406 105398406 C T SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known silent c.1116 p.R372 0.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 26 0 0 7 4 36.3636 MED15P1 0 genome.wustl.edu 37 14 19502086 19502086 + RNA SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 14 19502086 19502086 C T SNP MED15P1 ENST00000552968 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors MED15P1 HGNC ENSG00000257853 15 0 0 3 2 40 MAPK1IP1L 0 genome.wustl.edu 37 14 55529793 55529793 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 14 55529793 55529793 G A SNP MAPK1IP1L ENST00000395468 human ensembl 74_37 +1 known missense c.476 p.G159E 1.000 NULL NULL - no_errors MAPK1IP1L HGNC ENSG00000168175 89 0 0 39 14 26.4151 ENSG00000256357 0 genome.wustl.edu 37 14 94930899 94930899 + RNA SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 14 94930899 94930899 C T SNP ENSG00000256357 ENST00000536735 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors RP11-349I1.2 Clone_based_vega_gene ENSG00000256357 8 0 0 5 5 50 SNHG14 0 genome.wustl.edu 37 15 25463997 25463997 + RNA SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 15 25463997 25463997 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SNHG14 HGNC ENSG00000224078 49 0 0 35 8 18.6047 ATP10A 0 genome.wustl.edu 37 15 25928567 25928567 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 15 25928567 25928567 G T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3358 p.Q1120K 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 70 0 0 28 10 26.3158 CSPG4 0 genome.wustl.edu 37 15 75968312 75968312 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 15 75968312 75968312 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.6548 p.R2183Q 0.001 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 46 0 0 6 17 73.913 HBQ1 0 genome.wustl.edu 37 16 231013 231013 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 16 231013 231013 G A SNP HBQ1 ENST00000199708 human ensembl 74_37 +1 known missense c.335 p.R112Q 0.001 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_pi pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_pi - no_errors HBQ1 HGNC ENSG00000086506 62 0 0 19 8 29.6296 KAT8 0 genome.wustl.edu 37 16 31131779 31131779 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 16 31131779 31131779 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.406 p.R136C 1.000 superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 110 0 0 40 10 20 ABCC11 0 genome.wustl.edu 37 16 48247385 48247385 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 16 48247385 48247385 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.1325 p.T442M 0.002 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 63 0 0 23 5 17.8571 KLHDC4 0 genome.wustl.edu 37 16 87790012 87790012 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 16 87790012 87790012 C T SNP KLHDC4 ENST00000270583 human ensembl 74_37 -1 known missense c.263 p.G88D 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 88 0 0 29 3 9.375 TUBB8P7 0 genome.wustl.edu 37 16 90162651 90162651 + RNA SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 16 90162651 90162651 C T SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors TUBB8P7 HGNC ENSG00000261812 245 0 0 80 37 31.6239 ULK2 0 genome.wustl.edu 37 17 19689396 19689396 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 19689396 19689396 G A SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2105 p.P702L 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 63 0 0 8 12 60 USP32P3 0 genome.wustl.edu 37 17 20319867 20319867 + RNA SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 20319867 20319867 A G SNP USP32P3 ENST00000583574 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP32P3 HGNC ENSG00000189423 91 0 0 28 11 28.2051 TAOK1 0 genome.wustl.edu 37 17 27844528 27844528 + Nonsense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 27844528 27844528 C T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known nonsense c.1762 p.Q588* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 349 0 0 29 28 49.1228 ADAP2 0 genome.wustl.edu 37 17 29281526 29281526 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 29281526 29281526 G T SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.835 p.A279S 0.979 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 374 0 0 41 55 57.2917 XYLT2 0 genome.wustl.edu 37 17 48433958 48433958 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 48433958 48433958 T C SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known silent c.1569 p.Y523 0.998 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 156 0 0 35 4 10.2564 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 50 0 0 7 5 41.6667 MED13 0 genome.wustl.edu 37 17 60061595 60061595 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 60061595 60061595 C G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.2825 p.S942T 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 147 0 0 36 9 20 NEURL4 0 genome.wustl.edu 37 17 7231011 7231011 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 7231011 7231011 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.475 p.V159M 1.000 superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 240 1 0.414938 44 4 8.33333 TP53 0 genome.wustl.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 7578479 7578479 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.451 p.P151T 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 79 0 0 6 13 68.4211 SYNGR2 0 genome.wustl.edu 37 17 76168001 76168001 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 76168001 76168001 C T SNP SYNGR2 ENST00000225777 human ensembl 74_37 +1 known missense c.659 p.P220L 1.000 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 218 0 0 25 29 53.7037 DLGAP1 0 genome.wustl.edu 37 18 3879957 3879957 + Nonsense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 18 3879957 3879957 C A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known nonsense c.112 p.E38* 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 119 1 0.833333 26 9 25.7143 DSEL 0 genome.wustl.edu 37 18 65181679 65181679 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 18 65181679 65181679 A G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.197 p.L66P 0.995 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 112 0 0 34 14 29.1667 NFATC1 0 genome.wustl.edu 37 18 77171139 77171139 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 18 77171139 77171139 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.864 p.H288 0.005 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 107 0 0 24 7 22.5806 HMHA1 0 genome.wustl.edu 37 19 1079752 1079752 + Silent SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 1079752 1079752 G T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.1425 p.T475 0.806 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 134 0 0 23 18 43.9024 CLEC17A 0 genome.wustl.edu 37 19 14705596 14705596 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 14705596 14705596 T C SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known silent c.387 p.C129 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 55 0 0 12 4 25 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 202 1 0.492611 38 12 24 FAM129C 0 genome.wustl.edu 37 19 17662662 17662662 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 17662662 17662662 C G SNP FAM129C ENST00000332386 human ensembl 74_37 +1 known missense c.1911 p.I637M 0.029 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 86 0 0 11 5 31.25 ZNF568 0 genome.wustl.edu 37 19 37488168 37488168 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 37488168 37488168 T C SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known silent c.1383 p.H461 0.999 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 ZNF568 HGNC ENSG00000198453 41 0 0 11 11 50 PRX 0 genome.wustl.edu 37 19 40900427 40900427 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 40900427 40900427 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3832 p.D1278N 0.016 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 20 0 0 8 7 46.6667 CYP2A13 0 genome.wustl.edu 37 19 41600977 41600977 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 41600977 41600977 G C SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.1275 p.K425N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 298 0 0 69 33 32.3529 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 251 0 0 38 20 34.4828 FEM1A 0 genome.wustl.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 4793724 4793724 C A SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.1858 p.L620M 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 92 0 0 20 4 16.6667 SLC6A16 0 genome.wustl.edu 37 19 49793509 49793509 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 49793509 49793509 G A SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known silent c.2082 p.D694 0.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 264 0 0 68 16 19.0476 SHANK1 0 genome.wustl.edu 37 19 51171798 51171798 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 51171798 51171798 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.3443 p.P1148L 0.274 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 31 0 0 6 3 33.3333 LILRA5 0 genome.wustl.edu 37 19 54823401 54823401 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 54823401 54823401 T C SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known missense c.142 p.T48A 0.083 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 148 0 0 38 7 15.5556 ZNF446 0 genome.wustl.edu 37 19 58991711 58991711 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 58991711 58991711 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.971 p.P324L 0.010 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 21 0 0 8 2 20 ELANE 0 genome.wustl.edu 37 19 853309 853309 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 19 853309 853309 G A SNP ELANE ENST00000263621 human ensembl 74_37 +1 known missense c.272 p.R91Q 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 59 0 0 12 4 25 TPO 0 genome.wustl.edu 37 2 1507810 1507810 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 1507810 1507810 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2477 p.A826V 0.083 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 93 0 0 39 9 18.75 TTN 0 genome.wustl.edu 37 2 179417913 179417913 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 179417913 179417913 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82010 p.N27337S 1.000 pfam_Ig_I-set,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 149 0 0 75 6 7.40741 SLC40A1 0 genome.wustl.edu 37 2 190445194 190445194 + RNA SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 190445194 190445194 G C SNP SLC40A1 ENST00000418714 human ensembl 74_37 -1 known rna NULL NULL 0.208 - - - no_errors SLC40A1 HGNC ENSG00000138449 92 0 0 35 6 14.6341 CRYGD 0 genome.wustl.edu 37 2 208988895 208988895 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 208988895 208988895 C T SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known missense c.193 p.D65N 0.999 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 65 0 0 11 6 35.2941 SCG2 0 genome.wustl.edu 37 2 224463718 224463718 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 224463718 224463718 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.283 p.D95N 0.934 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 154 0 0 79 17 17.7083 C2orf44 0 genome.wustl.edu 37 2 24261172 24261172 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 24261172 24261172 A C SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known missense c.1193 p.L398R 0.993 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 166 0 0 46 43 48.3146 NCOA1 0 genome.wustl.edu 37 2 24964833 24964833 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 24964833 24964833 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3484 p.G1162S 1.000 pfam_DUF1518,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 116 0 0 48 25 34.2466 DRC1 0 genome.wustl.edu 37 2 26677608 26677608 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 2 26677608 26677608 C T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known silent c.2013 p.S671 0.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 151 0 0 33 24 42.1053 JAG1 0 genome.wustl.edu 37 20 10639259 10639259 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 10639259 10639259 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.551 p.R184H 1.000 pfam_DSL,smart_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 162 1 0.613497 50 25 33.3333 SSTR4 0 genome.wustl.edu 37 20 23016919 23016919 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 23016919 23016919 G A SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.799 p.V267I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 138 0 0 49 20 28.9855 SEMG2 0 genome.wustl.edu 37 20 43850987 43850987 + Silent SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 43850987 43850987 C A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known silent c.714 p.L238 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 245 0 0 103 17 14.1667 ARFGEF2 0 genome.wustl.edu 37 20 47639687 47639687 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 47639687 47639687 A C SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.4724 p.K1575T 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 92 0 0 38 20 34.4828 CBLN4 0 genome.wustl.edu 37 20 54579014 54579014 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 54579014 54579014 C T SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known missense c.214 p.A72T 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 233 0 0 80 24 23.0769 ZNF831 0 genome.wustl.edu 37 20 57766931 57766931 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 57766931 57766931 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.857 p.A286V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 161 1 0.617284 53 14 20.8955 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 131 1 0.757576 38 16 29.6296 MTG2 0 genome.wustl.edu 37 20 60768650 60768650 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 60768650 60768650 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.174 p.P58 0.000 NULL pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 54 0 0 19 15 44.1176 ANGPT4 0 genome.wustl.edu 37 20 860426 860426 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 20 860426 860426 G A SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known silent c.1017 p.T339 0.001 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 106 0 0 36 3 7.69231 TIAM1 0 genome.wustl.edu 37 21 32493107 32493107 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 21 32493107 32493107 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4355 p.R1452Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 86 0 0 18 6 25 EVA1C 0 genome.wustl.edu 37 21 33867373 33867373 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 21 33867373 33867373 G A SNP EVA1C ENST00000300255 human ensembl 74_37 +1 known missense c.671 p.R224Q 0.956 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom - no_errors EVA1C HGNC ENSG00000166979 121 0 0 30 11 26.8293 SUMO3 0 genome.wustl.edu 37 21 46233863 46233863 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 21 46233863 46233863 G C SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.178 p.L60V 0.000 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 89 0 0 25 3 10.7143 AIFM3 0 genome.wustl.edu 37 22 21334404 21334404 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 21334404 21334404 G A SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.1748 p.R583Q 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 69 0 0 14 7 33.3333 SEC14L2 0 genome.wustl.edu 37 22 30812329 30812329 + Nonsense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 30812329 30812329 C T SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known nonsense c.1018 p.Q340* 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 124 0 0 41 12 22.6415 SEC14L4 0 genome.wustl.edu 37 22 30891385 30891385 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 30891385 30891385 G A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known silent c.279 p.Y93 0.073 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 143 0 0 51 18 26.087 SFI1 0 genome.wustl.edu 37 22 32000902 32000902 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 32000902 32000902 G C SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2025 p.R675S 0.742 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 48 0 0 18 2 10 SERHL 0 genome.wustl.edu 37 22 42897745 42897745 + RNA SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 42897745 42897745 G A SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SERHL HGNC ENSG00000172250 8 0 0 3 3 50 CNTN6 0 genome.wustl.edu 37 3 1414148 1414148 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 1414148 1414148 G T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1658 p.R553M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 70 0 0 36 8 18.1818 PCOLCE2 0 genome.wustl.edu 37 3 142567080 142567080 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 142567080 142567080 C T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.427 p.A143T 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 81 0 0 51 9 15 MME 0 genome.wustl.edu 37 3 154832866 154832866 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 154832866 154832866 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.280 p.R94C 0.998 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 173 0 0 75 12 13.7931 FGF12 0 genome.wustl.edu 37 3 192053209 192053209 + Nonsense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 192053209 192053209 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known nonsense c.355 p.Q119* 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 88 0 0 38 22 36.6667 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 178 1 0.558659 37 19 33.9286 BSN 0 genome.wustl.edu 37 3 49680203 49680203 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 49680203 49680203 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.1136 p.P379H 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 96 0 0 41 22 34.9206 CPNE9 0 genome.wustl.edu 37 3 9756630 9756630 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 9756630 9756630 G A SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.683 p.R228Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 82 0 0 40 9 18.3673 CIDEC 0 genome.wustl.edu 37 3 9911862 9911862 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 3 9911862 9911862 G C SNP CIDEC ENST00000336832 human ensembl 74_37 -1 known missense c.352 p.P118A 0.994 pfam_CIDE-N_dom,pfscan_CIDE-N_dom pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEC HGNC ENSG00000187288 207 0 0 70 13 15.6627 LEF1 0 genome.wustl.edu 37 4 108991888 108991888 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 108991888 108991888 A G SNP LEF1 ENST00000265165 human ensembl 74_37 -1 known silent c.1047 p.Y349 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors LEF1 HGNC ENSG00000138795 136 0 0 45 7 13.4615 UVSSA 0 genome.wustl.edu 37 4 1345537 1345537 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 1345537 1345537 C G SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.464 p.A155G 0.994 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 142 0 0 16 9 36 ANXA10 0 genome.wustl.edu 37 4 169083757 169083757 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 169083757 169083757 C T SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known silent c.274 p.L92 0.516 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 58 0 0 24 3 11.1111 HAND2 0 genome.wustl.edu 37 4 174450016 174450016 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 174450016 174450016 C T SNP HAND2 ENST00000359562 human ensembl 74_37 -1 known missense c.425 p.R142H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND2 HGNC ENSG00000164107 223 0 0 31 22 41.5094 FAT1 0 genome.wustl.edu 37 4 187557880 187557880 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 187557880 187557880 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.3831 p.T1277 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 427 0 0 132 43 24.5714 FRAS1 0 genome.wustl.edu 37 4 79396677 79396677 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 79396677 79396677 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.7768 p.R2590C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 123 0 0 29 5 14.7059 ARHGAP24 0 genome.wustl.edu 37 4 86893327 86893327 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 4 86893327 86893327 T A SNP ARHGAP24 ENST00000503995 human ensembl 74_37 +1 known missense c.738 p.S246R 0.736 pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 78 0 0 16 22 57.8947 CHSY3 0 genome.wustl.edu 37 5 129241195 129241195 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 5 129241195 129241195 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 128 0 0 35 8 18.6047 PPP2R2B 0 genome.wustl.edu 37 5 145969504 145969504 + RNA SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 5 145969504 145969504 G T SNP PPP2R2B ENST00000530902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP2R2B HGNC ENSG00000156475 193 0 0 32 30 48.3871 SLC36A2 0 genome.wustl.edu 37 5 150696616 150696616 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 5 150696616 150696616 A C SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.1214 p.L405R 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 36 0 0 14 4 22.2222 UGT3A1 0 genome.wustl.edu 37 5 35965682 35965682 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 5 35965682 35965682 T C SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.649 p.M217V 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 133 0 0 52 32 38.0952 C5orf42 0 genome.wustl.edu 37 5 37170433 37170433 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 5 37170433 37170433 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.6172 p.L2058 0.999 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 104 0 0 51 34 40 REV3L 0 genome.wustl.edu 37 6 111652933 111652933 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 111652933 111652933 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.7980 p.L2660 0.998 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 208 0 0 43 31 41.8919 HIVEP1 0 genome.wustl.edu 37 6 12125570 12125570 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 12125570 12125570 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.5542 p.V1848I 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 128 0 0 67 15 18.2927 ITPR3 0 genome.wustl.edu 37 6 33656557 33656557 + Silent SNP A A T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 33656557 33656557 A T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.6693 p.T2231 0.939 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 130 0 0 32 3 8.57143 MEP1A 0 genome.wustl.edu 37 6 46806809 46806809 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 46806809 46806809 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.2177 p.T726M 0.002 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 154 0 0 72 10 12.1951 CRISP3 0 genome.wustl.edu 37 6 49704128 49704128 + Silent SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 49704128 49704128 G C SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known silent c.234 p.P78 0.009 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 233 0 0 88 18 16.9811 EEF1E1 0 genome.wustl.edu 37 6 8097522 8097522 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 8097522 8097522 T C SNP EEF1E1 ENST00000379715 human ensembl 74_37 -1 known missense c.266 p.N89S 0.997 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 220 0 0 91 20 18.018 PGM3 0 genome.wustl.edu 37 6 83892684 83892684 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 83892684 83892684 T A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.471 p.L157F 0.924 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 92 0 0 32 18 36 PGM3 0 genome.wustl.edu 37 6 83892687 83892687 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 6 83892687 83892687 C A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.468 p.L156F 0.993 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 92 0 0 33 15 31.25 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 109 0 0 34 11 24.4444 OR2F2 0 genome.wustl.edu 37 7 143632642 143632642 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 143632642 143632642 C T SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.317 p.A106V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 150 0 0 55 13 19.1176 PDIA4 0 genome.wustl.edu 37 7 148701057 148701057 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 148701057 148701057 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known silent c.1767 p.D589 0.037 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 107 0 0 31 15 32.6087 GALNTL5 0 genome.wustl.edu 37 7 151684285 151684285 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 151684285 151684285 C T SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.577 p.R193W 0.079 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 80 0 0 8 7 46.6667 PTPRN2 0 genome.wustl.edu 37 7 157931093 157931093 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 157931093 157931093 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1094 p.G365D 0.002 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 128 0 0 14 9 39.1304 PTPRN2 0 genome.wustl.edu 37 7 157959936 157959936 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 157959936 157959936 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.666 p.T222 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 122 0 0 19 5 20.8333 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 187 0 0 107 32 23.0216 PDE1C 0 genome.wustl.edu 37 7 31917586 31917586 + Missense_Mutation SNP T T G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 31917586 31917586 T G SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.489 p.L163F 0.999 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 65 0 0 39 5 11.3636 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 100 0 0 24 15 38.4615 KIAA1324L 0 genome.wustl.edu 37 7 86542424 86542424 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 7 86542424 86542424 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1828 p.G610S 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 73 0 0 30 23 43.3962 CSMD3 0 genome.wustl.edu 37 8 113418956 113418956 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 113418956 113418956 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5606 p.A1869D 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 90 0 0 35 6 14.6341 EFR3A 0 genome.wustl.edu 37 8 132997219 132997219 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 132997219 132997219 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1781 p.R594H 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 91 0 0 52 13 20 EEF1D 0 genome.wustl.edu 37 8 144662230 144662230 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 144662230 144662230 C T SNP EEF1D ENST00000532400 human ensembl 74_37 -1 novel missense c.206 p.R69K 1.000 NULL NULL - no_errors EEF1D HGNC ENSG00000104529 138 0 0 45 4 8.16327 SLC25A37 0 genome.wustl.edu 37 8 23429083 23429083 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 23429083 23429083 C T SNP SLC25A37 ENST00000519973 human ensembl 74_37 +1 known silent c.732 p.A244 0.456 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 34 0 0 22 5 18.5185 KCNU1 0 genome.wustl.edu 37 8 36698509 36698509 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 36698509 36698509 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1691 p.T564M 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 61 0 0 18 3 14.2857 MCM4 0 genome.wustl.edu 37 8 48889314 48889314 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 48889314 48889314 T C SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known silent c.2568 p.T856 0.984 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 125 0 0 33 8 19.5122 NSMAF 0 genome.wustl.edu 37 8 59535981 59535981 + Silent SNP A A T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 8 59535981 59535981 A T SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known silent c.552 p.L184 0.963 NULL pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 174 0 0 61 23 27.381 ANKS6 0 genome.wustl.edu 37 9 101533322 101533322 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 101533322 101533322 C T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1828 p.V610I 0.003 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 63 0 0 8 14 63.6364 TNC 0 genome.wustl.edu 37 9 117825304 117825304 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 117825304 117825304 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3925 p.R1309C 0.235 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 44 0 0 23 5 17.8571 ASTN2 0 genome.wustl.edu 37 9 119976939 119976939 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 119976939 119976939 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 89 0 0 25 5 16.6667 SH3GLB2 0 genome.wustl.edu 37 9 131784687 131784687 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 131784687 131784687 A C SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.79 p.F27V 0.999 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 48 0 0 9 2 18.1818 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 151 1 0.657895 34 16 32 CACNA1B 0 genome.wustl.edu 37 9 140777327 140777327 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 140777327 140777327 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.522 p.V174 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 503 0 0 131 29 18.125 ZNF658 0 genome.wustl.edu 37 9 40774433 40774433 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 40774433 40774433 T A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.842 p.K281I 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 214 0 0 76 72 48.6486 PHF2 0 genome.wustl.edu 37 9 96428068 96428068 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 9 96428068 96428068 G A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2038 p.V680M 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 301 0 0 36 40 52.6316 MUM1L1 0 genome.wustl.edu 37 X 105450999 105450999 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 105450999 105450999 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1574 p.P525L 0.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 52 0 0 19 5 20.8333 TENM1 0 genome.wustl.edu 37 X 123540329 123540329 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 123540329 123540329 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4993 p.E1665K 0.988 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 187 0 0 58 11 15.942 GRPR 0 genome.wustl.edu 37 X 16142390 16142390 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 16142390 16142390 G T SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.314 p.R105I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 198 0 0 67 31 31.6327 CNKSR2 0 genome.wustl.edu 37 X 21450741 21450741 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 21450741 21450741 G T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.240 p.L80F 1.000 superfamily_SAM/pointed pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 201 0 0 102 21 17.0732 FAM47C 0 genome.wustl.edu 37 X 37029349 37029349 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 37029349 37029349 C A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2866 p.P956T 0.028 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 255 0 0 105 18 14.6341 RPS6KA6 0 genome.wustl.edu 37 X 83359569 83359569 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea X 83359569 83359569 G A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1552 p.R518W 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 68 0 0 13 6 31.5789 AXDND1 0 genome.wustl.edu 37 1 179504026 179504028 + In_Frame_Del DEL AAG AAG - TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 1 179504026 179504028 AAG - DEL AXDND1 ENST00000367618 human ensembl 74_37 +1 known in_frame_del c.2960_2962 p.E991in_frame_del 0.004:0.002:0.015 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 56 0 0 19 3 13.6364 APBB1IP 0 genome.wustl.edu 37 10 26851119 26851120 + RNA INS - - T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 10 26851119 26851120 - T INS APBB1IP ENST00000493857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors APBB1IP HGNC ENSG00000077420 53 0 0 29 10 25.641 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 53 0 0 14 8 36.3636 EZH1 0 genome.wustl.edu 37 17 40864502 40864503 + Frame_Shift_Del DEL CT CT - TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 17 40864502 40864503 CT - DEL EZH1 ENST00000428826 human ensembl 74_37 -1 known frame_shift_del c.1206_1205 p.E402fs 1.000:1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 161 0 0 18 21 53.8462 ENSG00000225528 0 genome.wustl.edu 37 22 40360564 40360565 + RNA INS - - A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea 22 40360564 40360565 - A INS ENSG00000225528 ENST00000424496 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.826 - - - no_errors RP3-370M22.8 Clone_based_vega_gene ENSG00000225528 25 0 0 5 6 54.5455