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 DFFA 0 genome.wustl.edu 37 1 10527274 10527274 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 10527274 10527274 G A SNP DFFA ENST00000377038 human ensembl 74_37 -1 known silent c.414 p.I138 1.000 pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 153 0 0 132 7 5.03597 CELSR2 0 genome.wustl.edu 37 1 109793708 109793708 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 109793708 109793708 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1007 p.P336L 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 121 0 0 100 9 8.25688 PRAMEF12 0 genome.wustl.edu 37 1 12837237 12837237 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 12837237 12837237 C T SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.947 p.P316L 0.016 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 202 0 0 151 35 18.8172 CD1E 0 genome.wustl.edu 37 1 158325888 158325888 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 158325888 158325888 C G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.897 p.I299M 0.125 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 104 0 0 88 6 6.38298 CHI3L1 0 genome.wustl.edu 37 1 203152776 203152776 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 203152776 203152776 A G SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.458 p.L153P 0.807 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 59 0 0 63 10 13.6986 NFASC 0 genome.wustl.edu 37 1 204966334 204966334 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 204966334 204966334 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.3140 p.T1047M 0.658 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 59 0 0 42 7 14.2857 MARK1 0 genome.wustl.edu 37 1 220824034 220824034 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 220824034 220824034 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1543 p.V515I 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 128 0 0 116 19 14.0741 NID1 0 genome.wustl.edu 37 1 236142365 236142365 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 236142365 236142365 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.3552 p.T1184 0.105 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 63 0 0 50 9 15.2542 FMN2 0 genome.wustl.edu 37 1 240256644 240256644 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 240256644 240256644 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1235 p.P412L 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 79 0 0 43 11 20.3704 AIM1L 0 genome.wustl.edu 37 1 26655305 26655305 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 1 26655305 26655305 G A SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known silent c.1752 p.I584 0.037 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 86 0 0 73 11 13.0952 CNNM1 0 genome.wustl.edu 37 10 101124191 101124191 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 10 101124191 101124191 G A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known silent c.2046 p.E682 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 21 0 0 23 3 11.5385 PLCE1 0 genome.wustl.edu 37 10 96006106 96006106 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 10 96006106 96006106 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.2824 p.K942E 0.997 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 141 0 0 146 9 5.80645 DSCAML1 0 genome.wustl.edu 37 11 117307909 117307909 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 11 117307909 117307909 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4829 p.R1610H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 113 0 0 112 6 5.08475 DENND5A 0 genome.wustl.edu 37 11 9192306 9192306 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 11 9192306 9192306 C T SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.1925 p.R642H 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 114 0 0 130 7 5.10949 RIC8B 0 genome.wustl.edu 37 12 107209073 107209073 + Silent SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 107209073 107209073 G T SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known silent c.732 p.V244 0.987 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 121 0 0 111 29 20.7143 DNAH10 0 genome.wustl.edu 37 12 124330647 124330647 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 124330647 124330647 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5406 p.N1802 0.915 NULL 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 76 0 0 76 16 17.3913 PDE3A 0 genome.wustl.edu 37 12 20769164 20769164 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 20769164 20769164 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.1270 p.R424C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 103 1 0.961538 112 10 8.19672 LRRK2 0 genome.wustl.edu 37 12 40697868 40697868 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 40697868 40697868 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3709 p.L1237V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 80 0 0 79 5 5.95238 ZBTB39 0 genome.wustl.edu 37 12 57398420 57398420 + Silent SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 57398420 57398420 T C SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known silent c.282 p.T94 0.129 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 96 0 0 87 15 14.7059 CAND1 0 genome.wustl.edu 37 12 67699937 67699937 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 67699937 67699937 C G SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.2489 p.S830C 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 74 0 0 60 11 15.493 TPP2 0 genome.wustl.edu 37 13 103295620 103295620 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 13 103295620 103295620 T G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.2069 p.L690R 0.998 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 57 0 0 50 10 16.6667 ALOX5AP 0 genome.wustl.edu 37 13 31326239 31326239 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 13 31326239 31326239 C T SNP ALOX5AP ENST00000380490 human ensembl 74_37 +1 known missense c.221 p.A74V 0.993 pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP - no_errors ALOX5AP HGNC ENSG00000132965 70 0 0 82 28 25.4545 KBTBD6 0 genome.wustl.edu 37 13 41705946 41705946 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 13 41705946 41705946 C G SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.702 p.E234D 0.954 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 87 0 0 86 15 14.8515 EDNRB 0 genome.wustl.edu 37 13 78492238 78492238 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 13 78492238 78492238 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known silent c.471 p.I157 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 169 0 0 188 19 9.17874 MIR379 0 genome.wustl.edu 37 14 101488430 101488430 + RNA SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 14 101488430 101488430 G A SNP MIR379 ENST00000362218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR379 HGNC ENSG00000199088 80 0 0 66 8 10.8108 ADAM21P1 0 genome.wustl.edu 37 14 70712554 70712554 + RNA SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 14 70712554 70712554 T G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors ADAM21P1 HGNC ENSG00000235812 78 0 0 64 5 7.24638 ZSCAN29 0 genome.wustl.edu 37 15 43656493 43656493 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 15 43656493 43656493 C T SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1310 p.R437H 0.998 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 118 1 0.840336 135 8 5.59441 FANCI 0 genome.wustl.edu 37 15 89837116 89837116 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 15 89837116 89837116 T G SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.2344 p.S782A 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 120 0 0 102 15 12.8205 ATP2A1 0 genome.wustl.edu 37 16 28909608 28909608 + Silent SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 16 28909608 28909608 C A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known silent c.1600 p.R534 0.951 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 116 0 0 95 20 17.3913 CDH1 0 genome.wustl.edu 37 16 68845623 68845623 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 16 68845623 68845623 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.869 p.D290G 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 135 0 0 102 6 5.55556 WDR90 0 genome.wustl.edu 37 16 701703 701703 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 16 701703 701703 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.796 p.R266W 0.002 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 223 0 0 171 16 8.55615 MYH13 0 genome.wustl.edu 37 17 10219280 10219280 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 10219280 10219280 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.3801 p.D1267 0.948 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 126 0 0 89 45 33.5821 ZNF286A 0 genome.wustl.edu 37 17 15604534 15604534 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 15604534 15604534 C T SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known missense c.106 p.R36C 0.879 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 ZNF286A HGNC ENSG00000255104 176 0 0 145 22 13.1737 CDC6 0 genome.wustl.edu 37 17 38447833 38447833 + Nonsense_Mutation SNP T T A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 38447833 38447833 T A SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known nonsense c.573 p.C191* 1.000 superfamily_P-loop_NTPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 156 0 0 110 10 8.33333 CDK5RAP3 0 genome.wustl.edu 37 17 46053334 46053334 + Silent SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 46053334 46053334 A G SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known silent c.753 p.E251 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 66 0 0 53 7 11.6667 KAT7 0 genome.wustl.edu 37 17 47888906 47888906 + Silent SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 47888906 47888906 A G SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.822 p.G274 0.804 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 30 0 0 38 2 5 ANKRD40 0 genome.wustl.edu 37 17 48776919 48776919 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 48776919 48776919 G A SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.619 p.P207S 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 211 0 0 135 51 27.4194 INCA1 0 genome.wustl.edu 37 17 4891775 4891775 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 4891775 4891775 C T SNP INCA1 ENST00000396829 human ensembl 74_37 -1 known silent c.636 p.S212 0.145 NULL NULL - no_errors INCA1 HGNC ENSG00000196388 83 0 0 83 7 7.77778 TP53 0 genome.wustl.edu 37 17 7578407 7578407 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 7578407 7578407 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.523 p.R175G 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 66 0 0 49 9 15.5172 MFSD6L 0 genome.wustl.edu 37 17 8701689 8701689 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 17 8701689 8701689 C G SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.750 p.L250F 0.435 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 107 0 0 79 5 5.95238 TRAPPC8 0 genome.wustl.edu 37 18 29435730 29435730 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 18 29435730 29435730 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.3229 p.R1077W 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 59 0 0 33 16 32.6531 DSEL 0 genome.wustl.edu 37 18 65180164 65180164 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 18 65180164 65180164 G T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1712 p.S571Y 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 95 0 0 63 5 7.35294 LAMA1 0 genome.wustl.edu 37 18 7080074 7080074 + Missense_Mutation SNP A A T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 18 7080074 7080074 A T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.245 p.I82K 0.999 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 46 0 0 36 6 14.2857 ZNF236 0 genome.wustl.edu 37 18 74607109 74607109 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 18 74607109 74607109 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1552 p.A518T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 101 0 0 79 9 10.2273 SLC1A6 0 genome.wustl.edu 37 19 15063868 15063868 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 15063868 15063868 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known silent c.1371 p.T457 0.014 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 104 0 0 91 48 34.5324 ZNF730 0 genome.wustl.edu 37 19 23328922 23328922 + Missense_Mutation SNP A A C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 23328922 23328922 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1076 p.K359T 0.969 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 ZNF730 HGNC ENSG00000183850 31 0 0 33 5 13.1579 ZNF599 0 genome.wustl.edu 37 19 35251150 35251150 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 35251150 35251150 G T SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.556 p.P186T 0.000 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 ZNF599 HGNC ENSG00000153896 136 0 0 151 22 12.7168 HIPK4 0 genome.wustl.edu 37 19 40886895 40886895 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 40886895 40886895 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.1003 p.R335C 0.999 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 58 0 0 81 5 5.81395 ZNF582 0 genome.wustl.edu 37 19 56901826 56901826 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 56901826 56901826 T G SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.54 p.E18D 0.570 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF582 HGNC ENSG00000018869 118 0 0 147 10 6.36943 ZNF416 0 genome.wustl.edu 37 19 58083815 58083815 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 58083815 58083815 C A SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.1457 p.R486I 0.004 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 ZNF416 HGNC ENSG00000083817 121 0 0 132 11 7.69231 ZNF557 0 genome.wustl.edu 37 19 7081985 7081985 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 7081985 7081985 G A SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known silent c.348 p.V116 0.941 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 ZNF557 HGNC ENSG00000130544 57 0 0 76 12 13.6364 ZNF317 0 genome.wustl.edu 37 19 9271728 9271728 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 19 9271728 9271728 G A SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.1407 p.T469 0.091 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 ZNF317 HGNC ENSG00000130803 49 0 0 57 5 8.06452 ABCB11 0 genome.wustl.edu 37 2 169791908 169791908 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 169791908 169791908 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2842 p.R948C 1.000 pfam_ABC_transptr_TM_dom,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 ABCB11 HGNC ENSG00000073734 243 0 0 188 28 12.963 CXCR1 0 genome.wustl.edu 37 2 219029327 219029327 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 219029327 219029327 C T SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.608 p.R203Q 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 72 0 0 65 8 10.9589 COL4A4 0 genome.wustl.edu 37 2 227875130 227875130 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 227875130 227875130 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4421 p.T1474M 0.992 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 72 0 0 47 15 24.1935 HDLBP 0 genome.wustl.edu 37 2 242196205 242196205 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 242196205 242196205 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.467 p.A156V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 73 0 0 58 14 19.4444 PLEK 0 genome.wustl.edu 37 2 68613709 68613709 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 68613709 68613709 C T SNP PLEK ENST00000234313 human ensembl 74_37 +1 known missense c.548 p.S183L 0.429 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 83 0 0 83 6 6.74157 TET3 0 genome.wustl.edu 37 2 74273568 74273568 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 2 74273568 74273568 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 71 0 0 43 3 6.52174 TASP1 0 genome.wustl.edu 37 20 13415717 13415717 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 20 13415717 13415717 G A SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.1070 p.S357F 1.000 NULL pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 18 0 0 22 5 18.5185 FRG1B 0 genome.wustl.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 20 29625877 29625877 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.121 p.A41T 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 85 0 0 111 8 6.72269 DNMT3B 0 genome.wustl.edu 37 20 31394056 31394056 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 20 31394056 31394056 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.2343 p.I781 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 75 0 0 83 14 14.433 CNBD2 0 genome.wustl.edu 37 20 34563887 34563887 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 20 34563887 34563887 G A SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.206 p.R69Q 0.392 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 121 0 0 166 32 16.1616 OLIG2 0 genome.wustl.edu 37 21 34399355 34399355 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 21 34399355 34399355 C T SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known missense c.185 p.A62V 0.968 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 15 0 0 12 2 14.2857 RRP1 0 genome.wustl.edu 37 21 45215076 45215076 + Silent SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 21 45215076 45215076 C A SNP RRP1 ENST00000497547 human ensembl 74_37 +1 known silent c.367 p.R123 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 108 0 0 84 6 6.66667 SETD2 0 genome.wustl.edu 37 3 47155459 47155459 + Missense_Mutation SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 3 47155459 47155459 T C SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.4622 p.N1541S 1.000 smart_AWS,pfscan_AWS pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 120 0 0 89 36 28.8 LAMB2 0 genome.wustl.edu 37 3 49167420 49167420 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 3 49167420 49167420 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.1257 p.D419 0.793 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 197 0 0 170 18 9.57447 MAML3 0 genome.wustl.edu 37 4 140811123 140811123 + Silent SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 140811123 140811123 T C SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1467 p.Q489 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 30 0 0 39 3 7.14286 TRIML1 0 genome.wustl.edu 37 4 189068387 189068387 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 189068387 189068387 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.1268 p.G423E 0.017 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 166 1 0.598802 121 37 23.4177 PPARGC1A 0 genome.wustl.edu 37 4 23815403 23815403 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 23815403 23815403 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.1703 p.R568H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 62 0 0 39 5 11.3636 CORIN 0 genome.wustl.edu 37 4 47746513 47746513 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 47746513 47746513 C T SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.705 p.P235 0.020 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 191 0 0 202 16 7.33945 UGT2A2 0 genome.wustl.edu 37 4 70455255 70455255 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 70455255 70455255 G C SNP UGT2A2 ENST00000457664 human ensembl 74_37 -1 known missense c.1446 p.H482Q 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A2 HGNC ENSG00000271271 152 0 0 171 41 19.3396 EREG 0 genome.wustl.edu 37 4 75246757 75246757 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 75246757 75246757 G T SNP EREG ENST00000244869 human ensembl 74_37 +1 known missense c.181 p.A61S 1.000 NULL pfscan_EG-like_dom - no_errors EREG HGNC ENSG00000124882 118 0 0 99 13 11.6071 HERC5 0 genome.wustl.edu 37 4 89383350 89383350 + Silent SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 4 89383350 89383350 C A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known silent c.531 p.P177 0.038 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 35 0 0 23 2 8 IL13 0 genome.wustl.edu 37 5 131995141 131995141 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 5 131995141 131995141 G A SNP IL13 ENST00000304506 human ensembl 74_37 +1 known missense c.206 p.S69N 0.439 superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 pfam_IL-13,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 - no_errors IL13 HGNC ENSG00000169194 32 0 0 25 2 7.40741 SEC24A 0 genome.wustl.edu 37 5 134044579 134044579 + Splice_Site SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 5 134044579 134044579 G T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known splice_site c.2727+1 e18+1 1.000 - - - no_errors SEC24A HGNC ENSG00000113615 51 0 0 51 15 22.7273 NLN 0 genome.wustl.edu 37 5 65088312 65088312 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 5 65088312 65088312 G A SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.1357 p.G453S 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 109 0 0 96 10 9.43396 HIVEP2 0 genome.wustl.edu 37 6 143095264 143095264 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 143095264 143095264 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.612 p.L204 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 142 0 0 110 21 16.0305 FNDC1 0 genome.wustl.edu 37 6 159687181 159687181 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 159687181 159687181 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.5350 p.R1784W 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 89 0 0 83 11 11.7021 DLL1 0 genome.wustl.edu 37 6 170594221 170594221 + Missense_Mutation SNP A A T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 170594221 170594221 A T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.1035 p.D345E 0.856 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 51 0 0 33 11 25 OR5V1 0 genome.wustl.edu 37 6 29323192 29323192 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 29323192 29323192 G A SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.781 p.R261W 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 87 0 0 93 5 5.10204 LY6G6C 0 genome.wustl.edu 37 6 31686897 31686897 + Silent SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 31686897 31686897 G C SNP LY6G6C ENST00000375819 human ensembl 74_37 -1 known silent c.354 p.G118 0.998 NULL NULL - no_errors LY6G6C HGNC ENSG00000204421 87 0 0 71 16 18.3908 SLC35B3 0 genome.wustl.edu 37 6 8430176 8430176 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 6 8430176 8430176 C A SNP SLC35B3 ENST00000379660 human ensembl 74_37 -1 known missense c.218 p.S73I 1.000 NULL pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 35 0 0 45 10 18.1818 LAMB1 0 genome.wustl.edu 37 7 107572693 107572693 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 7 107572693 107572693 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.4318 p.A1440T 0.961 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 183 0 0 160 16 9.09091 GCC1 0 genome.wustl.edu 37 7 127222337 127222337 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 7 127222337 127222337 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.2059 p.R687W 0.725 superfamily_ARM-type_fold pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 91 0 0 85 6 6.59341 DNAH11 0 genome.wustl.edu 37 7 21784532 21784532 + Nonsense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 7 21784532 21784532 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.8382 p.C2794* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 22 0 0 26 2 7.14286 PPP1R17 0 genome.wustl.edu 37 7 31735216 31735216 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 7 31735216 31735216 C T SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known silent c.216 p.H72 0.997 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 155 0 0 140 8 5.40541 OR1L4 0 genome.wustl.edu 37 9 125487043 125487043 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 9 125487043 125487043 G A SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.775 p.V259I 0.848 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 98 0 0 81 18 18.1818 TMEM215 0 genome.wustl.edu 37 9 32784506 32784506 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 9 32784506 32784506 G A SNP TMEM215 ENST00000342743 human ensembl 74_37 +1 known missense c.325 p.D109N 0.878 NULL NULL - no_errors TMEM215 HGNC ENSG00000188133 79 0 0 66 6 8.33333 KIAA1045 0 genome.wustl.edu 37 9 34976588 34976588 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 9 34976588 34976588 G A SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.700 p.G234R 0.973 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 70 0 0 61 9 12.8571 IARS 0 genome.wustl.edu 37 9 95004524 95004524 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 9 95004524 95004524 G C SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.3089 p.T1030R 0.997 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 73 0 0 71 7 8.97436 AFF2 0 genome.wustl.edu 37 X 148048538 148048538 + Silent SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 X 148048538 148048538 C G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.3132 p.S1044 0.966 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 139 0 0 208 11 5.02283 ZMYM3 0 genome.wustl.edu 37 X 70462830 70462830 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 X 70462830 70462830 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3543 p.L1181 0.983 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 49 0 0 56 8 12.5 PABPC5 0 genome.wustl.edu 37 X 90690785 90690785 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 X 90690785 90690785 C T SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 24 0 0 28 8 22.2222 PCDH11X 0 genome.wustl.edu 37 X 91873417 91873417 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 X 91873417 91873417 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.3522 p.S1174 0.617 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 72 0 0 73 4 5.19481 TMTC1 0 genome.wustl.edu 37 12 29670442 29670457 + Frame_Shift_Del DEL GTGTTGTAATACAGTG GTGTTGTAATACAGTG - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 GTGTTGTAATACAGTG GTGTTGTAATACAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 12 29670442 29670457 GTGTTGTAATACAGTG - DEL TMTC1 ENST00000256062 human ensembl 74_37 -1 known frame_shift_del c.1763_1748 p.A583fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.283:0.859:0.882:0.781:0.874:0.786:0.001:1.000 pfam_TPR_1,pfam_TPR_2,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 165 0 0 187 11 5.55556 AKAP6 0 genome.wustl.edu 37 14 32902831 32902831 + Frame_Shift_Del DEL G G - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 14 32902831 32902831 G - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.132 p.D45fs 0.997 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 87 0 0 65 12 15.5844 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 8 0 0 7 5 41.6667 MED6 0 genome.wustl.edu 37 14 71060070 71060075 + In_Frame_Del DEL GATATA GATATA - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 GATATA GATATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 14 71060070 71060075 GATATA - DEL MED6 ENST00000256379 human ensembl 74_37 -1 known in_frame_del c.300_295 p.YI99in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln - no_errors MED6 HGNC ENSG00000133997 74 0 0 55 8 12.6984 CSPG4 0 genome.wustl.edu 37 15 75982987 75982987 + Frame_Shift_Del DEL A A - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 15 75982987 75982987 A - DEL CSPG4 ENST00000308508 human ensembl 74_37 -1 known frame_shift_del c.419 p.L140fs 0.992 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 61 0 0 44 12 21.4286 ROCK1 0 genome.wustl.edu 37 18 18625285 18625286 + In_Frame_Ins INS - - AAA TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 18 18625285 18625286 - AAA INS ROCK1 ENST00000399799 human ensembl 74_37 -1 known in_frame_ins c.558_557 p.186in_frame_insF 1.000:1.000 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_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 63 0 0 59 8 11.9403