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 ABCF1 0 genome.wustl.edu 37 6 30545853 30545854 + Frame_Shift_Ins INS - - A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 30545853 30545854 - A INS ABCF1 ENST00000326195 human ensembl 74_37 +1 known frame_shift_ins c.217_218 p.K77fs 1.000:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 tier1 23 0 0.00 23 3 11.54 ABI3BP 0 genome.wustl.edu 37 3 100541483 100541483 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 100541483 100541483 C T SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.689 p.R230H 0.814 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 100 0 0.00 83 39 31.97 ACAT1 0 genome.wustl.edu 37 11 108018099 108018099 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 108018099 108018099 G A SNP ACAT1 ENST00000265838 human ensembl 74_37 +1 known missense c.1266 p.M422I 0.592 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 47 0 0.00 42 4 8.70 ACSM1 0 genome.wustl.edu 37 16 20682982 20682982 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 20682982 20682982 G A SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.623 p.P208L 0.010 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 45 0 0.00 36 2 5.26 ACTL9 0 genome.wustl.edu 37 19 8808742 8808742 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 8808742 8808742 C T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.310 p.V104M 0.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 tier1 - - 29 0 0.00 7 21 75.00 ADAM7 0 genome.wustl.edu 37 8 24348310 24348310 + Splice_Site SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 24348310 24348310 A G SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known splice_site c.1267-2 e13-2 0.999 - - - no_errors ADAM7 HGNC ENSG00000069206 66 0 0.00 26 2 7.14 ADAMTS1 0 genome.wustl.edu 37 21 28210407 28210407 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 21 28210407 28210407 A G SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known silent c.2395 p.L799 0.904 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 tier1 rs148288841 - 37 0 0.00 27 4 12.90 ADAMTS9 0 genome.wustl.edu 37 3 64589620 64589620 + Nonsense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 64589620 64589620 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known nonsense c.3725 p.W1242* 1.000 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 55 0 0.00 35 2 5.41 ADCY10 0 genome.wustl.edu 37 1 167815044 167815044 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 167815044 167815044 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2764 p.E922K 0.035 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 22 0 0.00 16 6 27.27 ADH1B 0 genome.wustl.edu 37 4 100232043 100232043 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 100232043 100232043 C T SNP ADH1B ENST00000305046 human ensembl 74_37 -1 known missense c.982 p.G328S 0.001 pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 tier1 - - 73 0 0.00 13 17 56.67 ADRA2A 0 genome.wustl.edu 37 10 112838072 112838072 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 112838072 112838072 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known silent c.318 p.L106 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 tier1 - - 45 0 0.00 19 28 59.57 AFAP1-AS1 0 genome.wustl.edu 37 4 7780445 7780445 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 7780445 7780445 G A SNP AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 tier1 - - 33 0 0.00 19 12 38.71 AHRR 0 genome.wustl.edu 37 5 434629 434629 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 434629 434629 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.1840 p.R614W 0.002 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 25 0 0.00 17 2 10.53 AK4 0 genome.wustl.edu 37 1 65690447 65690447 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 65690447 65690447 G A SNP AK4 ENST00000327299 human ensembl 74_37 +1 known missense c.451 p.V151I 0.431 pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK4 HGNC ENSG00000162433 tier1 - - 64 0 0.00 49 17 25.76 ALAS2 0 genome.wustl.edu 37 X 55041310 55041310 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 55041310 55041310 C T SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1307 p.R436Q 0.994 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 24 0 0.00 11 23 67.65 ALMS1 0 genome.wustl.edu 37 2 73646442 73646442 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 73646442 73646442 G T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.642 p.L214 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 24 0 0.00 34 2 5.56 ANGPT1 0 genome.wustl.edu 37 8 108509537 108509537 + Nonsense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 108509537 108509537 G A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known nonsense c.250 p.Q84* 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 27 0 0.00 23 5 17.86 ANK3 0 genome.wustl.edu 37 10 61833950 61833950 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 61833950 61833950 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6689 p.H2230R 0.956 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 57 0 0.00 20 17 45.95 ANKZF1 0 genome.wustl.edu 37 2 220099605 220099605 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 220099605 220099605 C T SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known missense c.1262 p.T421I 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 tier1 - - 85 0 0.00 67 4 5.63 ANXA10 0 genome.wustl.edu 37 4 169086462 169086462 + Silent SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 169086462 169086462 C G SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known silent c.465 p.L155 0.986 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 tier1 - - 56 0 0.00 13 40 75.47 AP4E1 0 genome.wustl.edu 37 15 51240354 51240354 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 51240354 51240354 G A SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known silent c.1314 p.E438 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 53 0 0.00 38 2 5.00 ARMC6 0 genome.wustl.edu 37 19 19162794 19162794 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 19162794 19162794 G T SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.643 p.D215Y 0.998 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 tier1 - - 36 0 0.00 23 4 14.81 ARSF 0 genome.wustl.edu 37 X 3002339 3002339 + Silent SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 3002339 3002339 A T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known silent c.462 p.P154 0.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 tier1 - - 23 0 0.00 19 4 17.39 ASXL3 0 genome.wustl.edu 37 18 31319073 31319073 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 31319073 31319073 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.1705 p.T569A 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 44 0 0.00 30 4 11.76 ATP10D 0 genome.wustl.edu 37 4 47548682 47548682 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 47548682 47548682 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known nonsense c.1438 p.E480* 1.000 superfamily_HAD-like_dom,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 ATP10D HGNC ENSG00000145246 56 0 0.00 23 2 8.00 ATP11A 0 genome.wustl.edu 37 13 113496688 113496688 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 113496688 113496688 G T SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1804 p.A602S 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP11A HGNC ENSG00000068650 50 0 0.00 38 2 5.00 ATP13A4 0 genome.wustl.edu 37 3 193156843 193156843 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 193156843 193156843 C A SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.2531 p.G844V 1.000 superfamily_HAD-like_dom,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,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 56 0 0.00 37 23 38.33 ATP6V0A1 0 genome.wustl.edu 37 17 40642555 40642555 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 40642555 40642555 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known silent c.1095 p.N365 0.986 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 tier1 - - 46 0 0.00 26 4 13.33 ATP8B4 0 genome.wustl.edu 37 15 50152608 50152608 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 50152608 50152608 C A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3362 p.R1121L 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B4 HGNC ENSG00000104043 tier1 - - 47 0 0.00 24 17 41.46 BPIFB4 0 genome.wustl.edu 37 20 31671358 31671358 + Nonsense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 31671358 31671358 C T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known nonsense c.355 p.R119* 0.035 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 37 0 0.00 34 12 26.09 BTBD11 0 genome.wustl.edu 37 12 108045467 108045467 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 108045467 108045467 A C SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3008 p.K1003T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 55 0 0.00 13 27 67.50 BZW1 0 genome.wustl.edu 37 2 201680407 201680407 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 201680407 201680407 G T SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.259 p.A87S 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 tier1 - - 87 0 0.00 57 4 6.56 C12orf55 0 genome.wustl.edu 37 12 97038026 97038026 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 97038026 97038026 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4387 p.S1463R 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 51 0 0.00 15 5 25.00 C12orf55 0 genome.wustl.edu 37 12 97038039 97038039 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 97038039 97038039 G C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4400 p.R1467T 0.206 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 61 0 0.00 14 8 36.36 C16orf93 0 genome.wustl.edu 37 16 30771670 30771670 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 30771670 30771670 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known missense c.404 p.G135D 1.000 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 tier1 - - 33 0 0.00 12 4 23.53 C1orf112 0 genome.wustl.edu 37 1 169768031 169768031 + RNA SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 169768031 169768031 G C SNP C1orf112 ENST00000472795 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 tier1 - - 42 0 0.00 28 7 20.00 C1orf87 0 genome.wustl.edu 37 1 60506694 60506694 + Missense_Mutation SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 60506694 60506694 T A SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known missense c.452 p.Q151L 0.566 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 17 0 0.00 25 2 7.41 C9orf117 0 genome.wustl.edu 37 9 130472879 130472879 + Splice_Site DEL G G - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 130472879 130472879 G - DEL C9orf117 ENST00000373295 human ensembl 74_37 +1 known splice_site_del c.434-1 e3-1 1.000 - - - no_errors C9orf117 HGNC ENSG00000160401 tier1 43 0 0.00 27 2 6.90 CAMTA2 0 genome.wustl.edu 37 17 4872598 4872598 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 4872598 4872598 A G SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.3386 p.I1129T 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 92 0 0.00 59 7 10.61 CARD6 0 genome.wustl.edu 37 5 40853005 40853005 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 40853005 40853005 A G SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.1571 p.Q524R 0.916 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 tier1 - - 68 0 0.00 54 10 15.62 CCDC102B 0 genome.wustl.edu 37 18 66678251 66678251 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 66678251 66678251 C G SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known missense c.1344 p.N448K 0.687 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 tier1 - - 44 0 0.00 10 15 60.00 CCDC160 0 genome.wustl.edu 37 X 133378941 133378941 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 133378941 133378941 T C SNP CCDC160 ENST00000370809 human ensembl 74_37 +1 known silent c.111 p.T37 0.000 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 tier1 - - 66 0 0.00 67 4 5.63 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748633 36748633 + Silent SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 36748633 36748633 T A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.1092 p.P364 0.534 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 71 0 0.00 60 4 6.25 CCDC51 0 genome.wustl.edu 37 3 48474404 48474404 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 48474404 48474404 G T SNP CCDC51 ENST00000395694 human ensembl 74_37 -1 known missense c.650 p.A217D 0.950 NULL NULL - no_errors CCDC51 HGNC ENSG00000164051 tier1 - - 40 0 0.00 36 4 10.00 CCNL1 0 genome.wustl.edu 37 3 156869712 156869712 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 156869712 156869712 G A SNP CCNL1 ENST00000470121 human ensembl 74_37 -1 known missense c.682 p.H228Y 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 tier1 - - 37 0 0.00 22 10 31.25 CCR1 0 genome.wustl.edu 37 3 46245367 46245367 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 46245367 46245367 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known silent c.438 p.T146 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 21 0 0.00 29 3 9.38 CDADC1 0 genome.wustl.edu 37 13 49833555 49833555 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 49833555 49833555 A G SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.326 p.H109R 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 tier1 - - 61 0 0.00 53 4 7.02 CFH 0 genome.wustl.edu 37 1 196659305 196659305 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 196659305 196659305 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.1272 p.K424 0.002 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 CFH HGNC ENSG00000000971 tier1 - - 69 0 0.00 18 25 58.14 CFTR 0 genome.wustl.edu 37 7 117180247 117180247 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 117180247 117180247 T C SNP CFTR ENST00000003084 human ensembl 74_37 +1 known silent c.963 p.S321 0.991 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 75 0 0.00 38 2 5.00 CISD3 0 genome.wustl.edu 37 17 36890780 36890781 + RNA INS - - A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 36890780 36890781 - A INS CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 36 0 0.00 31 4 11.43 CLCA3P 0 genome.wustl.edu 37 1 87108268 87108268 + RNA SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 87108268 87108268 T A SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CLCA3P HGNC ENSG00000153923 tier1 - - 28 0 0.00 22 17 43.59 CLRN1 0 genome.wustl.edu 37 3 150690295 150690295 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 150690295 150690295 G A SNP CLRN1 ENST00000328863 human ensembl 74_37 -1 known silent c.201 p.H67 0.981 NULL NULL - no_errors CLRN1 HGNC ENSG00000163646 49 0 0.00 55 3 5.17 CNST 0 genome.wustl.edu 37 1 246810502 246810502 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 246810502 246810502 G A SNP CNST ENST00000366513 human ensembl 74_37 +1 known silent c.999 p.L333 0.001 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 55 0 0.00 25 23 46.94 CNTN5 0 genome.wustl.edu 37 11 99690322 99690322 + Missense_Mutation SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 99690322 99690322 T A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.103 p.L35I 0.875 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 CNTN5 HGNC ENSG00000149972 tier1 - - 51 0 0.00 36 4 10.00 CNTNAP5 0 genome.wustl.edu 37 2 125285014 125285014 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 125285014 125285014 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1627 p.L543M 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 80 0 0.00 34 8 19.05 COL4A4 0 genome.wustl.edu 37 2 227872864 227872864 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 227872864 227872864 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4679 p.R1560H 0.096 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 tier1 - - 75 0 0.00 32 21 39.62 COL6A1 0 genome.wustl.edu 37 21 47406477 47406477 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 21 47406477 47406477 G T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.466 p.V156L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 116 0 0.00 63 23 26.74 COL6A5 0 genome.wustl.edu 37 3 130113738 130113738 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 130113738 130113738 C A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2998 p.H1000N 0.001 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 26 0 0.00 16 6 27.27 CPQ 0 genome.wustl.edu 37 8 97797325 97797325 + Nonsense_Mutation SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 97797325 97797325 T A SNP CPQ ENST00000220763 human ensembl 74_37 +1 known nonsense c.200 p.L67* 0.997 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 32 0 0.00 22 2 8.33 CRYL1 0 genome.wustl.edu 37 13 20978792 20978792 + Silent SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 20978792 20978792 A T SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known silent c.828 p.T276 0.000 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 61 0 0.00 76 4 5.00 CSMD3 0 genome.wustl.edu 37 8 113347645 113347645 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 113347645 113347645 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7078 p.E2360Q 1.000 pfam_CUB_dom,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 tier1 - - 48 0 0.00 49 9 15.52 CSPG5 0 genome.wustl.edu 37 3 47618986 47618986 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 47618986 47618986 A T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.530 p.L177Q 1.000 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 45 0 0.00 41 18 30.51 CYLC1 0 genome.wustl.edu 37 X 83128496 83128496 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 83128496 83128496 T G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.780 p.N260K 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 28 0 0.00 33 5 13.16 CYP1A2 0 genome.wustl.edu 37 15 75042256 75042256 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 75042256 75042256 G T SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.177 p.K59N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 tier1 - - 54 0 0.00 55 5 8.20 CYP4A22 0 genome.wustl.edu 37 1 47610628 47610628 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 47610628 47610628 G A SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known missense c.1208 p.R403H 0.844 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 tier1 - - 48 0 0.00 47 4 7.84 DAW1 0 genome.wustl.edu 37 2 228750092 228750092 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 228750092 228750092 T C SNP DAW1 ENST00000309931 human ensembl 74_37 +1 known silent c.66 p.H22 0.084 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DAW1 HGNC ENSG00000123977 tier1 - - 78 0 0.00 46 9 16.36 DCAF12L2 0 genome.wustl.edu 37 X 125298805 125298805 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 125298805 125298805 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1103 p.G368V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 36 0 0.00 3 21 87.50 DCLK1 0 genome.wustl.edu 37 13 36362405 36362405 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 36362405 36362405 G A SNP DCLK1 ENST00000255448 human ensembl 74_37 -1 known silent c.2076 p.T692 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 55 0 0.00 50 4 7.41 DDI1 0 genome.wustl.edu 37 11 103908168 103908168 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 103908168 103908168 G T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.618 p.L206 0.992 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 tier1 - - 31 0 0.00 20 9 31.03 DFNA5 0 genome.wustl.edu 37 7 24789377 24789377 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 24789377 24789377 G A SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.17 p.T6I 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 tier1 - - 33 0 0.00 26 6 18.75 DGKD 0 genome.wustl.edu 37 2 234365951 234365952 + Frame_Shift_Ins INS - - G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 234365951 234365952 - G INS DGKD ENST00000264057 human ensembl 74_37 +1 known frame_shift_ins c.2557_2558 p.T856fs 1.000:1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 tier1 35 0 0.00 27 3 10.00 DIRC2 0 genome.wustl.edu 37 3 122564698 122564698 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 122564698 122564698 A T SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.922 p.T308S 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 tier1 - - 59 0 0.00 39 23 37.10 DKC1 0 genome.wustl.edu 37 X 153994770 153994771 + RNA INS - - A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 153994770 153994771 - A INS DKC1 ENST00000473552 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors DKC1 HGNC ENSG00000130826 tier1 8 0 0.00 10 4 28.57 DLC1 0 genome.wustl.edu 37 8 13357027 13357027 + Missense_Mutation SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 13357027 13357027 T A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.554 p.D185V 0.042 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 33 0 0.00 28 2 6.67 DMXL1 0 genome.wustl.edu 37 5 118506593 118506595 + In_Frame_Del DEL TTC TTC - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 118506593 118506595 TTC - DEL DMXL1 ENST00000539542 human ensembl 74_37 +1 known in_frame_del c.6107_6109 p.L2037in_frame_del 1.000:1.000:1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 49 0 0.00 47 9 16.07 DNAH1 0 genome.wustl.edu 37 3 52433140 52433140 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 52433140 52433140 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.12364 p.A4122T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 66 0 0.00 64 4 5.88 DNAH14 0 genome.wustl.edu 37 1 225270265 225270265 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 225270265 225270265 G A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.3151 p.D1051N 0.007 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 73 0 0.00 44 22 33.33 DNAH14 0 genome.wustl.edu 37 1 225273407 225273407 + Silent SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 225273407 225273407 T A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known silent c.3489 p.S1163 0.001 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 62 0 0.00 51 4 7.27 DNAH6 0 genome.wustl.edu 37 2 84897535 84897535 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 84897535 84897535 T C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.6390 p.T2130 0.945 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 36 0 0.00 14 9 39.13 DNAJC10 0 genome.wustl.edu 37 2 183621088 183621088 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 183621088 183621088 C T SNP DNAJC10 ENST00000264065 human ensembl 74_37 +1 known silent c.1701 p.N567 0.959 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 tier1 rs150626904 - 51 0 0.00 27 4 12.90 DNAJC13 0 genome.wustl.edu 37 3 132244576 132244576 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 132244576 132244576 G T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.6183 p.R2061S 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 53 0 0.00 50 4 7.41 DNMT3A 0 genome.wustl.edu 37 2 25463510 25463510 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 25463510 25463510 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.2172 p.Y724 0.776 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 62 0 0.00 38 6 13.64 DYNC1H1 0 genome.wustl.edu 37 14 102461351 102461351 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 102461351 102461351 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.3362 p.D1121G 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,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 43 0 0.00 47 4 7.55 EBF2 0 genome.wustl.edu 37 8 25715895 25715895 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 25715895 25715895 A C SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.1468 p.L490V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 74 0 0.00 18 22 55.00 EDEM2 0 genome.wustl.edu 37 20 33719456 33719456 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 33719456 33719456 G A SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.833 p.A278V 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 56 0 0.00 52 4 7.14 EMR4P 0 genome.wustl.edu 37 19 6981138 6981138 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 6981138 6981138 G A SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 - - 52 0 0.00 13 4 23.53 ENPP3 0 genome.wustl.edu 37 6 132004266 132004266 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 132004266 132004266 C T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1084 p.H362Y 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 56 0 0.00 62 4 5.97 ENSG00000177596 0 genome.wustl.edu 37 13 74988982 74988982 + Silent SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 74988982 74988982 A T SNP ENSG00000177596 ENST00000325811 human ensembl 74_37 -1 known silent c.135 p.S45 0.000 NULL NULL - no_errors AL355390.1 Clone_based_ensembl_gene ENSG00000177596 28 0 0.00 29 3 9.38 ENSG00000180458 0 genome.wustl.edu 37 19 38039247 38039247 + RNA SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 38039247 38039247 G T SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 46 0 0.00 23 3 11.54 ENSG00000221505 0 genome.wustl.edu 37 X 142534050 142534050 + RNA SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 142534050 142534050 A C SNP ENSG00000221505 ENST00000408578 human ensembl 74_37 -1 novel rna NULL NULL 0.015 - - - no_errors AL030997.1 Clone_based_ensembl_gene ENSG00000221505 tier1 - - 48 0 0.00 40 5 11.11 ENSG00000229400 0 genome.wustl.edu 37 1 224918091 224918091 + RNA SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 224918091 224918091 A C SNP ENSG00000229400 ENST00000431691 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-3L21.2 Clone_based_vega_gene ENSG00000229400 tier1 - - 36 0 0.00 17 12 41.38 ENSG00000254551 0 genome.wustl.edu 37 11 82920887 82920887 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 82920887 82920887 C T SNP ENSG00000254551 ENST00000531869 human ensembl 74_37 -1 known rna NULL NULL 0.829 - - - no_errors RP11-727A23.7 Clone_based_vega_gene ENSG00000254551 tier1 - - 56 0 0.00 16 5 23.81 ENSG00000270433 0 genome.wustl.edu 37 14 23764733 23764733 + RNA DEL A A - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 23764733 23764733 A - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.835 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 tier1 37 0 0.00 20 2 9.09 ENSG00000271769 0 genome.wustl.edu 37 12 121439044 121439044 + RNA SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 121439044 121439044 G T SNP ENSG00000271769 ENST00000606238 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-216P16.2 Clone_based_vega_gene ENSG00000271769 tier1 - - 45 0 0.00 17 4 19.05 ENTPD5 0 genome.wustl.edu 37 14 74439665 74439665 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 74439665 74439665 G T SNP ENTPD5 ENST00000334696 human ensembl 74_37 -1 known missense c.949 p.Q317K 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 tier1 - - 35 0 0.00 30 4 11.76 EPHA3 0 genome.wustl.edu 37 3 89448604 89448604 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 89448604 89448604 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1568 p.K523R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 31 0 0.00 37 3 7.50 EPHX4 0 genome.wustl.edu 37 1 92495767 92495767 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 92495767 92495767 G A SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known missense c.131 p.G44D 0.981 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 68 0 0.00 57 4 6.56 ERBB2 0 genome.wustl.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 37881000 37881000 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2329 p.V777L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 rs121913471 - 45 0 0.00 10 33 76.74 ERC2 0 genome.wustl.edu 37 3 55717849 55717849 + RNA SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 55717849 55717849 T G SNP ERC2 ENST00000468118 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 33 0 0.00 33 7 17.50 ERN1 0 genome.wustl.edu 37 17 62130146 62130146 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 62130146 62130146 C T SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known silent c.2247 p.E749 0.996 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 tier1 - - 21 0 0.00 7 17 70.83 EVPL 0 genome.wustl.edu 37 17 74004779 74004779 + Nonsense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 74004779 74004779 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known nonsense c.4507 p.Q1503* 0.994 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 73 0 0.00 57 5 8.06 F10 0 genome.wustl.edu 37 13 113803524 113803524 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 113803524 113803524 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.1160 p.R387H 0.825 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 tier1 - - 37 0 0.00 40 4 9.09 FAM114A1 0 genome.wustl.edu 37 4 38910270 38910270 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 38910270 38910270 A T SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known missense c.715 p.M239L 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 tier1 - - 51 0 0.00 46 5 9.80 FAM138C 0 genome.wustl.edu 37 9 35199 35199 + RNA SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 35199 35199 A G SNP FAM138C ENST00000305248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138C HGNC ENSG00000218839 tier1 - - 15 0 0.00 13 5 27.78 FANCM 0 genome.wustl.edu 37 14 45642264 45642264 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 45642264 45642264 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.2167 p.E723K 0.506 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 34 0 0.00 16 7 30.43 FBN1 0 genome.wustl.edu 37 15 48734034 48734034 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 48734034 48734034 T C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.6047 p.E2016G 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 27 0 0.00 16 5 23.81 FBN1 0 genome.wustl.edu 37 15 48777601 48777601 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 48777601 48777601 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3682 p.A1228T 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 45 0 0.00 24 4 14.29 FCRL5 0 genome.wustl.edu 37 1 157514222 157514222 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 157514222 157514222 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.674 p.R225Q 0.072 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 rs138632023 - 44 0 0.00 36 26 41.94 FLG 0 genome.wustl.edu 37 1 152280800 152280800 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 152280800 152280800 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6562 p.S2188G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 145 0 0.00 77 30 27.52 FLNB 0 genome.wustl.edu 37 3 58108914 58108914 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 58108914 58108914 G T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3221 p.G1074V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 66 0 0.00 29 31 51.67 GABRA1 0 genome.wustl.edu 37 5 161300175 161300175 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 161300175 161300175 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.308 p.K103R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 59 0 0.00 33 3 8.33 GABRG1 0 genome.wustl.edu 37 4 46043213 46043213 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 46043213 46043213 G T SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.1190 p.P397Q 0.979 superfamily_Neurotrans-gated_channel_TM,prints_GABBAg1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 52 0 0.00 37 2 5.13 GARNL3 0 genome.wustl.edu 37 9 130155496 130155496 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 130155496 130155496 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.3005 p.T1002M 0.006 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 30 0 0.00 26 2 7.14 GFM1 0 genome.wustl.edu 37 3 158367801 158367801 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 158367801 158367801 C T SNP GFM1 ENST00000264263 human ensembl 74_37 +1 novel silent c.697 p.L233 0.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 87 0 0.00 37 26 41.27 GLP2R 0 genome.wustl.edu 37 17 9791263 9791263 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 9791263 9791263 C T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known silent c.1299 p.A433 1.000 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 tier1 - - 78 0 0.00 59 6 9.23 GLRB 0 genome.wustl.edu 37 4 158041783 158041783 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 158041783 158041783 T G SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.198 p.S66R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_B,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 73 0 0.00 66 4 5.71 GMPR2 0 genome.wustl.edu 37 14 24702536 24702536 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 24702536 24702536 C T SNP GMPR2 ENST00000348719 human ensembl 74_37 +1 known missense c.77 p.S26F 1.000 pfam_IMP_DH_GMPRt,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1 - no_errors GMPR2 HGNC ENSG00000100938 tier1 - - 28 0 0.00 25 10 27.78 GPCPD1 0 genome.wustl.edu 37 20 5545710 5545710 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 5545710 5545710 C T SNP GPCPD1 ENST00000379019 human ensembl 74_37 -1 known missense c.1282 p.E428K 0.958 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 28 0 0.00 33 2 5.71 GRIA4 0 genome.wustl.edu 37 11 105483060 105483060 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 105483060 105483060 T G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.146 p.F49C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 62 0 0.00 46 10 17.86 GRIK4 0 genome.wustl.edu 37 11 120690618 120690618 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 120690618 120690618 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.500 p.A167V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 28 0 0.00 13 3 18.75 GRIK4 0 genome.wustl.edu 37 11 120776104 120776104 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 120776104 120776104 C G SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1378 p.R460G 0.375 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 44 0 0.00 34 2 5.56 GSN 0 genome.wustl.edu 37 9 124091567 124091567 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 124091567 124091567 G C SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.2092 p.V698L 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 tier1 - - 30 0 0.00 10 15 60.00 HEATR4 0 genome.wustl.edu 37 14 73974888 73974888 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 73974888 73974888 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.1831 p.D611N 0.971 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 51 0 0.00 34 15 30.61 HEXIM1 0 genome.wustl.edu 37 17 43226787 43226787 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 43226787 43226787 A G SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known missense c.230 p.Q77R 0.893 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 tier1 - - 52 0 0.00 55 4 6.67 HIPK2 0 genome.wustl.edu 37 7 139268762 139268762 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 139268762 139268762 G A SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known silent c.2766 p.H922 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 39 0 0.00 21 3 12.50 HIVEP3 0 genome.wustl.edu 37 1 42050347 42050347 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 42050347 42050347 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.122 p.G41D 0.093 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 46 0 0.00 19 4 17.39 HMCN1 0 genome.wustl.edu 37 1 186151369 186151369 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 186151369 186151369 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16364 p.C5455Y 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 36 0 0.00 19 2 9.52 HMGB2 0 genome.wustl.edu 37 4 174253279 174253279 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 174253279 174253279 C T SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known silent c.582 p.E194 0.850 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 43 0 0.00 35 2 5.41 HNRNPR 0 genome.wustl.edu 37 1 23636875 23636875 + RNA DEL T T - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 23636875 23636875 T - DEL HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 40 0 0.00 25 4 13.79 HSPB7 0 genome.wustl.edu 37 1 16343677 16343677 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 16343677 16343677 G C SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known missense c.240 p.I80M 0.999 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 tier1 - - 45 0 0.00 26 4 12.90 HTR1F 0 genome.wustl.edu 37 3 88039959 88039959 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 88039959 88039959 G T SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.60 p.M20I 1.000 prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 tier1 - - 62 0 0.00 29 16 35.56 HTR2A 0 genome.wustl.edu 37 13 47409525 47409525 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 47409525 47409525 G T SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.863 p.S288Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 38 0 0.00 33 3 8.33 IFT140 0 genome.wustl.edu 37 16 1621534 1621534 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 1621534 1621534 C A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1526 p.G509V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 70 0 0.00 33 4 10.81 IL17RC 0 genome.wustl.edu 37 3 9971729 9971729 + Nonsense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 9971729 9971729 A T SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known nonsense c.1387 p.K463* 0.999 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 33 0 0.00 28 4 12.50 IPPK 0 genome.wustl.edu 37 9 95397512 95397512 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 95397512 95397512 A G SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.995 p.L332P 0.995 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 tier1 - - 63 0 0.00 43 4 8.51 IRX2 0 genome.wustl.edu 37 5 2749614 2749614 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 2749614 2749614 G T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.537 p.T179 0.259 smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 83 0 0.00 48 3 5.88 JRK 0 genome.wustl.edu 37 8 143762060 143762060 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 143762060 143762060 C T SNP JRK ENST00000585503 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors JRK HGNC ENSG00000234616 tier1 - - 58 0 0.00 18 26 59.09 KCNK1 0 genome.wustl.edu 37 1 233749941 233749941 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 233749941 233749941 C T SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known silent c.24 p.S8 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 15 0 0.00 18 7 26.92 KCNQ2 0 genome.wustl.edu 37 20 62038490 62038490 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 62038490 62038490 G T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.2150 p.P717H 0.050 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 59 0 0.00 33 12 26.67 KEL 0 genome.wustl.edu 37 7 142639567 142639567 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 142639567 142639567 C T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1991 p.S664N 0.003 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 55 0 0.00 22 2 8.33 KIAA0196 0 genome.wustl.edu 37 8 126085478 126085478 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 126085478 126085478 A T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1067 p.L356Q 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 - - 78 0 0.00 68 4 5.56 KIAA1024 0 genome.wustl.edu 37 15 79749775 79749775 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 79749775 79749775 C A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1286 p.A429E 0.001 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 39 0 0.00 32 2 5.88 KIAA1324L 0 genome.wustl.edu 37 7 86547820 86547820 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 86547820 86547820 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1531 p.G511R 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 tier1 - - 67 0 0.00 46 15 24.59 KIAA1715 0 genome.wustl.edu 37 2 176804340 176804340 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 176804340 176804340 C T SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known missense c.845 p.R282Q 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 48 0 0.00 25 2 7.41 KIAA1755 0 genome.wustl.edu 37 20 36869132 36869132 + Frame_Shift_Del DEL G G - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 36869132 36869132 G - DEL KIAA1755 ENST00000279024 human ensembl 74_37 -1 known frame_shift_del c.1401 p.T468fs 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 80 0 0.00 49 23 31.94 KIF20B 0 genome.wustl.edu 37 10 91528501 91528501 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 91528501 91528501 A G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.5188 p.I1730V 0.108 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 47 0 0.00 30 14 31.82 KMT2C 0 genome.wustl.edu 37 7 151935808 151935808 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 151935808 151935808 A C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.2636 p.I879S 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 192 0 0.00 57 6 9.52 KRT24 0 genome.wustl.edu 37 17 38854886 38854886 + Nonsense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 38854886 38854886 C A SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known nonsense c.1378 p.E460* 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 tier1 - - 44 0 0.00 36 4 10.00 KRTAP4-6 0 genome.wustl.edu 37 17 39296226 39296226 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 39296226 39296226 G A SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.514 p.R172C 0.004 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 tier1 - - 317 0 0.00 199 79 28.42 KRTAP4-7 0 genome.wustl.edu 37 17 39240822 39240822 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 39240822 39240822 C T SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.364 p.R122C 0.039 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 rs142279857 - 50 0 0.00 5 40 88.89 LAMA5 0 genome.wustl.edu 37 20 60903938 60903938 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 60903938 60903938 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.4409 p.R1470H 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 rs200572038 - 87 0 0.00 62 4 6.06 LAMC1 0 genome.wustl.edu 37 1 183087275 183087275 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 183087275 183087275 G T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known nonsense c.1984 p.E662* 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 67 0 0.00 32 3 8.57 LEPR 0 genome.wustl.edu 37 1 66102029 66102029 + Silent SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 66102029 66102029 T A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.2829 p.L943 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 71 0 0.00 32 3 8.57 LEUTX 0 genome.wustl.edu 37 19 40276679 40276679 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 40276679 40276679 G T SNP LEUTX ENST00000396841 human ensembl 74_37 +1 novel missense c.411 p.K137N 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,pfscan_Homeobox_dom - no_errors LEUTX HGNC ENSG00000213921 tier1 - - 35 0 0.00 10 19 65.52 LGI1 0 genome.wustl.edu 37 10 95552621 95552621 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 95552621 95552621 C T SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.625 p.R209C 1.000 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 tier1 - - 76 0 0.00 35 11 23.91 LINC00668 0 genome.wustl.edu 37 18 6927513 6927513 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 6927513 6927513 G A SNP LINC00668 ENST00000578497 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors LINC00668 HGNC ENSG00000265933 tier1 - - 14 0 0.00 5 7 58.33 LINGO2 0 genome.wustl.edu 37 9 27949442 27949443 + Frame_Shift_Ins INS - - T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 27949442 27949443 - T INS LINGO2 ENST00000308675 human ensembl 74_37 -1 known frame_shift_ins c.1228_1227 p.P409fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 69 0 0.00 29 3 9.38 LMX1B 0 genome.wustl.edu 37 9 129453201 129453201 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 129453201 129453201 T C SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.413 p.L138P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 tier1 - - 76 0 0.00 60 4 6.25 LOC100133077 0 genome.wustl.edu 37 9 140777413 140777413 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 140777413 140777413 C T SNP LOC100133077 ENST00000371390 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 tier1 - - 41 0 0.00 25 4 13.79 LOC100996870 0 genome.wustl.edu 37 9 66466327 66466327 + RNA DEL G G - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 66466327 66466327 G - DEL LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.090 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 9 0 0.00 4 4 50.00 LOC375295 0 genome.wustl.edu 37 2 177502196 177502196 + RNA SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 177502196 177502196 G T SNP LOC375295 ENST00000295549 human ensembl 74_37 -1 known rna NULL NULL 0.871 - - - no_errors AC017048.3 Clone_based_vega_gene ENSG00000163364 tier1 - - 107 0 0.00 73 4 5.19 LONRF3 0 genome.wustl.edu 37 X 118148249 118148249 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 118148249 118148249 T C SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known missense c.2054 p.L685P 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 tier1 - - 27 0 0.00 26 4 13.33 LRCH4 0 genome.wustl.edu 37 7 100173586 100173586 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 100173586 100173586 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1684 p.E562K 0.967 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 tier1 - - 61 0 0.00 77 21 21.43 LRRC16B 0 genome.wustl.edu 37 14 24524824 24524824 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 24524824 24524824 G T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.678 p.R226 0.628 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 107 0 0.00 59 4 6.35 LRRC69 0 genome.wustl.edu 37 8 92139365 92139365 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 92139365 92139365 G T SNP LRRC69 ENST00000448384 human ensembl 74_37 +1 novel silent c.360 p.T120 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC ENSG00000214954 39 0 0.00 37 2 5.13 LSS 0 genome.wustl.edu 37 21 47635094 47635094 + Silent SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 21 47635094 47635094 C G SNP LSS ENST00000356396 human ensembl 74_37 -1 known silent c.1011 p.P337 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 tier1 - - 61 0 0.00 22 26 54.17 MAS1 0 genome.wustl.edu 37 6 160328869 160328869 + Silent SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 160328869 160328869 C A SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known silent c.882 p.S294 0.986 prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 tier1 - - 31 0 0.00 23 4 14.81 MCC 0 genome.wustl.edu 37 5 112399790 112399790 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 112399790 112399790 C A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1534 p.A512S 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 30 0 0.00 15 7 31.82 MCM10 0 genome.wustl.edu 37 10 13206206 13206206 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 13206206 13206206 G A SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.4 p.D2N 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 69 0 0.00 55 4 6.78 MED23 0 genome.wustl.edu 37 6 131915385 131915385 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 131915385 131915385 G A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3104 p.A1035V 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 - - 34 0 0.00 40 4 9.09 MFAP5 0 genome.wustl.edu 37 12 8800754 8800754 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 8800754 8800754 C T SNP MFAP5 ENST00000359478 human ensembl 74_37 -1 known missense c.455 p.R152H 0.442 NULL pfam_MAGP - no_errors MFAP5 HGNC ENSG00000197614 tier1 - - 26 0 0.00 16 15 48.39 MGA 0 genome.wustl.edu 37 15 41961511 41961511 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 41961511 41961511 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.419 p.R140H 0.998 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 77 0 0.00 45 4 8.16 MIR300 0 genome.wustl.edu 37 14 101507721 101507721 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 101507721 101507721 C T SNP MIR300 ENST00000401138 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR300 HGNC ENSG00000215957 tier1 - - 43 0 0.00 17 20 54.05 MMP16 0 genome.wustl.edu 37 8 89131076 89131076 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 89131076 89131076 G T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.724 p.L242I 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 40 0 0.00 40 4 9.09 MN1 0 genome.wustl.edu 37 22 28196380 28196380 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 22 28196380 28196380 G A SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.152 p.A51V 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 31 0 0.00 17 3 15.00 MPP7 0 genome.wustl.edu 37 10 28378763 28378763 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 28378763 28378763 A G SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known silent c.960 p.F320 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 tier1 - - 46 0 0.00 22 3 12.00 MT-CO1 0 genome.wustl.edu 37 MT 6573 6573 + Frame_Shift_Del DEL G G - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 MT 6573 6573 G - DEL MT-CO1 ENST00000361624 human ensembl 74_37 +1 known frame_shift_del c.670 p.G224fs NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 66 0 0.00 6 2 25.00 MT-ND5 0 genome.wustl.edu 37 MT 13528 13528 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 MT 13528 13528 A T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1192 p.T398S NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 49 0 0.00 3 2 33.33 MT-ND5 0 genome.wustl.edu 37 MT 13581 13581 + Silent SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 MT 13581 13581 T A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.1245 p.A415 NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 47 0 0.00 3 2 40.00 MTA3 0 genome.wustl.edu 37 2 42909546 42909546 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 42909546 42909546 C G SNP MTA3 ENST00000405094 human ensembl 74_37 +1 known missense c.708 p.H236Q 0.998 pfscan_ELM2_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 tier1 - - 49 0 0.00 37 4 9.76 MUC13 0 genome.wustl.edu 37 3 124646709 124646709 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 124646709 124646709 G A SNP MUC13 ENST00000311075 human ensembl 74_37 -1 known missense c.181 p.P61S 0.000 NULL pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 64 0 0.00 67 4 5.63 MUC16 0 genome.wustl.edu 37 19 9083708 9083708 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 9083708 9083708 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8107 p.S2703R 0.825 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 52 0 0.00 18 10 35.71 MUC16 0 genome.wustl.edu 37 19 9086902 9086902 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 9086902 9086902 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4913 p.S1638N 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 49 4 7.55 MUC6 0 genome.wustl.edu 37 11 1025814 1025814 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 1025814 1025814 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.2790 p.I930 0.057 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 50 0 0.00 29 15 34.09 MYLK2 0 genome.wustl.edu 37 20 30409338 30409338 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 30409338 30409338 A G SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.570 p.P190 0.954 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 34 0 0.00 36 2 5.26 MYOF 0 genome.wustl.edu 37 10 95099977 95099977 + RNA SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 95099977 95099977 G C SNP MYOF ENST00000475358 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MYOF HGNC ENSG00000138119 tier1 - - 76 0 0.00 28 18 39.13 NAGK 0 genome.wustl.edu 37 2 71302688 71302688 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 71302688 71302688 C T SNP NAGK ENST00000418807 human ensembl 74_37 +1 putative missense c.430 p.P144S 1.000 pfam_ATPase_BadF pfam_ATPase_BadF - no_errors NAGK HGNC ENSG00000124357 tier1 - - 74 0 0.00 52 4 7.02 NARS 0 genome.wustl.edu 37 18 55283232 55283232 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 55283232 55283232 C T SNP NARS ENST00000590123 human ensembl 74_37 -1 known missense c.113 p.C38Y 0.000 NULL NULL - no_errors NARS HGNC ENSG00000134440 tier1 - - 26 0 0.00 8 3 27.27 NBPF9 0 genome.wustl.edu 37 1 144826712 144826712 + RNA SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 144826712 144826712 G T SNP NBPF9 ENST00000488888 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 rs200477780 - 16 0 0.00 9 4 30.77 NCAPD3 0 genome.wustl.edu 37 11 134073622 134073622 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 134073622 134073622 C T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.1395 p.L465 0.110 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 55 0 0.00 49 4 7.55 NCL 0 genome.wustl.edu 37 2 232319942 232319944 + In_Frame_Del DEL CCT CCT - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 232319942 232319944 CCT - DEL NCL ENST00000322723 human ensembl 74_37 -1 known in_frame_del c.2093_2091 p.G698in_frame_del 1.000:0.999:0.061 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 tier1 49 0 0.00 31 3 8.82 NDE1 0 genome.wustl.edu 37 16 15771674 15771674 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 15771674 15771674 A G SNP NDE1 ENST00000396353 human ensembl 74_37 +1 known missense c.254 p.Q85R 1.000 NULL pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 tier1 - - 33 0 0.00 29 4 12.12 NDUFAF4 0 genome.wustl.edu 37 6 97338905 97338905 + RNA SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 97338905 97338905 T C SNP NDUFAF4 ENST00000478382 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors NDUFAF4 HGNC ENSG00000123545 tier1 - - 39 0 0.00 14 10 41.67 NELL2 0 genome.wustl.edu 37 12 44915837 44915837 + Silent SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 44915837 44915837 A C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.2271 p.T757 0.001 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 54 0 0.00 31 7 18.42 NFIL3 0 genome.wustl.edu 37 9 94171973 94171973 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 94171973 94171973 C T SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known silent c.1044 p.T348 0.000 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 35 0 0.00 26 2 7.14 NOXRED1 0 genome.wustl.edu 37 14 77873849 77873849 + Silent SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 77873849 77873849 G T SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known silent c.489 p.A163 0.464 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 tier1 - - 77 0 0.00 56 4 6.67 NUB1 0 genome.wustl.edu 37 7 151074157 151074157 + Frame_Shift_Del DEL A A - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 151074157 151074157 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.1766 p.D590fs 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 tier1 52 0 0.00 14 2 12.50 NUP62 0 genome.wustl.edu 37 19 50412739 50412739 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 50412739 50412739 G T SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.326 p.A109E 0.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 tier1 - - 95 0 0.00 31 36 53.73 OCLN 0 genome.wustl.edu 37 5 68805284 68805284 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 68805284 68805284 G A SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.367 p.G123S 1.000 pfam_Marvel,pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 tier1 - - 90 0 0.00 41 30 42.25 OGFRL1 0 genome.wustl.edu 37 6 72011406 72011406 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 72011406 72011406 A C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known missense c.1010 p.N337T 0.000 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 tier1 - - 19 0 0.00 19 6 24.00 OR10X1 0 genome.wustl.edu 37 1 158549447 158549447 + Silent SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 158549447 158549447 T G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known silent c.243 p.A81 0.988 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 OR10X1 HGNC ENSG00000186400 tier1 - - 47 0 0.00 35 26 42.62 OR13C2 0 genome.wustl.edu 37 9 107367631 107367631 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 107367631 107367631 G T SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.278 p.S93Y 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 53 0 0.00 36 2 5.26 OR4K1 0 genome.wustl.edu 37 14 20404047 20404047 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 20404047 20404047 T C SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.222 p.S74 0.053 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 tier1 - - 89 0 0.00 30 28 48.28 OR4N2 0 genome.wustl.edu 37 14 20296200 20296200 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 20296200 20296200 T C SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.593 p.L198P 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 123 0 0.00 81 6 6.90 OR52A5 0 genome.wustl.edu 37 11 5153614 5153614 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 5153614 5153614 A C SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.259 p.F87V 0.894 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 tier1 - - 38 0 0.00 16 13 44.83 OR5AR1 0 genome.wustl.edu 37 11 56431942 56431942 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 56431942 56431942 A G SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.781 p.R261G 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 tier1 - - 49 0 0.00 43 7 14.00 OR8H1 0 genome.wustl.edu 37 11 56058355 56058355 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 56058355 56058355 A C SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.184 p.F62V 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 tier1 - - 96 0 0.00 45 16 26.23 PAX6 0 genome.wustl.edu 37 11 31824329 31824329 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 31824329 31824329 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.64 p.P22S 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 80 0 0.00 55 3 5.17 PCDHA12 0 genome.wustl.edu 37 5 140257282 140257282 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 140257282 140257282 C G SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2225 p.S742C 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 72 0 0.00 32 24 42.86 PCDHA8 0 genome.wustl.edu 37 5 140221088 140221088 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 140221088 140221088 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.182 p.P61L 0.295 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 126 0 0.00 50 48 48.98 PCDHGB2 0 genome.wustl.edu 37 5 140741034 140741034 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 140741034 140741034 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1332 p.D444 0.760 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 tier1 - - 41 0 0.00 32 9 21.95 PCSK7 0 genome.wustl.edu 37 11 117100474 117100474 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 117100474 117100474 G A SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known silent c.87 p.F29 0.813 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 tier1 - - 38 0 0.00 27 16 37.21 PDGFRA 0 genome.wustl.edu 37 4 55139789 55139789 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 55139789 55139789 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1450 p.V484M 0.998 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 tier1 rs149031291 - 28 0 0.00 8 12 60.00 PDLIM1 0 genome.wustl.edu 37 10 96998406 96998406 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 96998406 96998406 T C SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.722 p.K241R 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 tier1 - - 92 0 0.00 37 29 43.94 PI15 0 genome.wustl.edu 37 8 75757681 75757681 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 75757681 75757681 G T SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.590 p.W197L 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 tier1 - - 63 0 0.00 27 26 49.06 PIEZO2 0 genome.wustl.edu 37 18 10671605 10671605 + Silent SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 10671605 10671605 T C SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.2049 p.E683 1.000 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 49 0 0.00 19 20 51.28 PIGT 0 genome.wustl.edu 37 20 44047496 44047496 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 44047496 44047496 G T SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.370 p.D124Y 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 tier1 - - 54 0 0.00 24 15 38.46 PIKFYVE 0 genome.wustl.edu 37 2 209190824 209190824 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 209190824 209190824 G T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known nonsense c.3289 p.E1097* 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 35 0 0.00 37 2 5.13 PLXNB2 0 genome.wustl.edu 37 22 50726368 50726371 + Frame_Shift_Del DEL TCCC TCCC - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 TCCC TCCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 22 50726368 50726371 TCCC - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.1479_1476 p.E492fs 0.611:1.000:1.000:1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 31 0 0.00 15 4 21.05 POLD3 0 genome.wustl.edu 37 11 74315814 74315814 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 74315814 74315814 G A SNP POLD3 ENST00000263681 human ensembl 74_37 +1 known missense c.194 p.G65D 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 tier1 - - 76 0 0.00 54 4 6.90 PPP1R21 0 genome.wustl.edu 37 2 48742317 48742317 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 48742317 48742317 G A SNP PPP1R21 ENST00000476199 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 20 0 0.00 3 6 66.67 PPP2R2D 0 genome.wustl.edu 37 10 133761171 133761171 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 133761171 133761171 A G SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.865 p.N289D 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 tier1 - - 75 0 0.00 53 4 7.02 PPP2R2D 0 genome.wustl.edu 37 10 133769418 133769418 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 133769418 133769418 C T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.1220 p.A407V 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 tier1 - - 55 0 0.00 24 4 14.29 PRKCQ 0 genome.wustl.edu 37 10 6520982 6520982 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 6520982 6520982 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1325 p.T442M 0.996 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 46 0 0.00 20 16 44.44 PROSER1 0 genome.wustl.edu 37 13 39587469 39587469 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 39587469 39587469 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.1920 p.G640 0.978 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 38 0 0.00 10 18 64.29 PRRC2A 0 genome.wustl.edu 37 6 31599781 31599781 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 31599781 31599781 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known nonsense c.3331 p.E1111* 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 42 0 0.00 28 2 6.67 PRSS33 0 genome.wustl.edu 37 16 2834785 2834785 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 2834785 2834785 G T SNP PRSS33 ENST00000293851 human ensembl 74_37 -1 known missense c.703 p.L235M 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS33 HGNC ENSG00000103355 tier1 - - 71 0 0.00 56 4 6.67 PRSS3P3 0 genome.wustl.edu 37 7 141988448 141988448 + RNA SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 141988448 141988448 C A SNP PRSS3P3 ENST00000463748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PRSS3P3 HGNC ENSG00000242115 tier1 - - 39 0 0.00 12 7 36.84 PSEN1 0 genome.wustl.edu 37 14 73664779 73664779 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 73664779 73664779 G T SNP PSEN1 ENST00000324501 human ensembl 74_37 +1 known missense c.810 p.M270I 1.000 pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Peptidase_A22A pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 62 0 0.00 46 4 8.00 PTGER4 0 genome.wustl.edu 37 5 40691994 40691994 + Nonsense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 40691994 40691994 G A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known nonsense c.981 p.W327* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 tier1 - - 35 0 0.00 39 14 26.42 RHPN1 0 genome.wustl.edu 37 8 144462879 144462879 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 144462879 144462879 G A SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known missense c.1337 p.R446H 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 tier1 - - 54 0 0.00 30 4 11.76 RIMS2 0 genome.wustl.edu 37 8 105236014 105236014 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 8 105236014 105236014 A T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known missense c.135 p.E45D 0.025 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 80 0 0.00 43 17 28.33 RNASE13 0 genome.wustl.edu 37 14 21502315 21502315 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 21502315 21502315 G T SNP RNASE13 ENST00000382951 human ensembl 74_37 -1 known missense c.133 p.P45T 0.000 superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC ENSG00000206150 tier1 - - 67 0 0.00 46 4 8.00 RPL7A 0 genome.wustl.edu 37 9 136215087 136215087 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 136215087 136215087 C T SNP RPL7A ENST00000463740 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL7A HGNC ENSG00000148303 tier1 - - 49 0 0.00 37 12 24.49 RPLP0 0 genome.wustl.edu 37 12 120636490 120636490 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 120636490 120636490 G T SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known missense c.518 p.T173K 1.000 NULL pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 tier1 - - 89 0 0.00 35 4 10.26 SAMD9L 0 genome.wustl.edu 37 7 92762366 92762366 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 92762366 92762366 T G SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2919 p.K973N 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 41 0 0.00 69 12 14.81 SBF1 0 genome.wustl.edu 37 22 50898076 50898076 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 22 50898076 50898076 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.3511 p.V1171M 1.000 pfam_Myotubularin-like_Pase_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 44 0 0.00 26 3 10.34 SDK1 0 genome.wustl.edu 37 7 4119167 4119167 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 4119167 4119167 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3275 p.P1092L 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 tier1 - - 105 0 0.00 37 12 24.49 SEMA5A 0 genome.wustl.edu 37 5 9108359 9108359 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 9108359 9108359 A T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1966 p.W656R 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 56 0 0.00 39 3 7.14 SEPT7 0 genome.wustl.edu 37 7 35871296 35871296 + RNA SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 35871296 35871296 A C SNP SEPT7 ENST00000493626 human ensembl 74_37 +1 known rna NULL NULL 0.269 - - - no_errors SEPT7 HGNC ENSG00000122545 tier1 - - 8 0 0.00 1 5 83.33 SERPINB4 0 genome.wustl.edu 37 18 61309035 61309035 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 61309035 61309035 C T SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.310 p.A104T 0.974 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 90 0 0.00 35 2 5.41 SERPING1 0 genome.wustl.edu 37 11 57382017 57382017 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 57382017 57382017 C A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.1466 p.P489H 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 55 0 0.00 18 19 51.35 SI 0 genome.wustl.edu 37 3 164735454 164735454 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 164735454 164735454 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3641 p.G1214D 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 48 0 0.00 44 4 8.33 SLC22A14 0 genome.wustl.edu 37 3 38357957 38357957 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 38357957 38357957 C T SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known silent c.1675 p.L559 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 tier1 - - 58 0 0.00 51 4 7.27 SLC35B2 0 genome.wustl.edu 37 6 44224423 44224423 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 44224423 44224423 G T SNP SLC35B2 ENST00000538577 human ensembl 74_37 -1 known missense c.80 p.P27Q 1.000 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 tier1 - - 68 0 0.00 56 4 6.67 SOCS7 0 genome.wustl.edu 37 17 36508663 36508665 + In_Frame_Del DEL AGC AGC - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 36508663 36508665 AGC - DEL SOCS7 ENST00000577233 human ensembl 74_37 +1 known in_frame_del c.536_538 p.Q183in_frame_del 0.984:0.981:0.980 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 tier1 34 0 0.00 33 3 8.33 SOGA2 0 genome.wustl.edu 37 18 8784425 8784425 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 8784425 8784425 C G SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1315 p.P439A 0.922 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 100 0 0.00 72 29 28.71 SORBS1 0 genome.wustl.edu 37 10 97165894 97165894 + Frame_Shift_Del DEL T T - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 97165894 97165894 T - DEL SORBS1 ENST00000361941 human ensembl 74_37 -1 known frame_shift_del c.966 p.K322fs 0.990 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 52 0 0.00 33 2 5.71 SPTBN4 0 genome.wustl.edu 37 19 41008781 41008781 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 41008781 41008781 G C SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1303 p.D435H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 16 0 0.00 15 4 21.05 SRCAP 0 genome.wustl.edu 37 16 30734421 30734421 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 30734421 30734421 C G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.4030 p.P1344A 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 58 0 0.00 37 9 19.57 SRSF5 0 genome.wustl.edu 37 14 70238180 70238180 + RNA SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 70238180 70238180 C T SNP SRSF5 ENST00000556587 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF5 HGNC ENSG00000100650 tier1 - - 41 0 0.00 22 5 18.52 SSTR4 0 genome.wustl.edu 37 20 23016449 23016449 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 23016449 23016449 G T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.329 p.R110L 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt 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 28 0 0.00 36 2 5.26 STAB2 0 genome.wustl.edu 37 12 104014254 104014254 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 104014254 104014254 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.340 p.G114C 0.995 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 58 0 0.00 27 2 6.90 STAG3 0 genome.wustl.edu 37 7 99801705 99801705 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 99801705 99801705 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known missense c.2762 p.R921Q 0.960 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 tier1 - - 32 0 0.00 62 15 19.48 STARD9 0 genome.wustl.edu 37 15 42973663 42973663 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 42973663 42973663 A T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.1918 p.R640W 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 32 0 0.00 20 4 16.67 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809570 48809570 + Nonsense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 48809570 48809570 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known nonsense c.1798 p.R600* 0.998 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 60 0 0.00 21 22 51.16 SYNDIG1 0 genome.wustl.edu 37 20 24523982 24523982 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 24523982 24523982 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.249 p.V83 0.964 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 43 0 0.00 37 4 9.76 TAGLN3 0 genome.wustl.edu 37 3 111719776 111719776 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 111719776 111719776 C T SNP TAGLN3 ENST00000273368 human ensembl 74_37 +1 known missense c.338 p.T113M 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat - no_errors TAGLN3 HGNC ENSG00000144834 tier1 - - 78 0 0.00 72 22 23.40 TAPT1 0 genome.wustl.edu 37 4 16164964 16164964 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 16164964 16164964 G A SNP TAPT1 ENST00000405303 human ensembl 74_37 -1 known silent c.1671 p.D557 1.000 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 tier1 - - 50 0 0.00 35 4 10.26 TCEB3B 0 genome.wustl.edu 37 18 44561163 44561163 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 44561163 44561163 G C SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.473 p.P158R 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 123 0 0.00 13 18 58.06 TCEB3C 0 genome.wustl.edu 37 18 44555352 44555352 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 44555352 44555352 A G SNP TCEB3C ENST00000330682 human ensembl 74_37 -1 known missense c.862 p.F288L 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC ENSG00000183791 tier1 - - 406 0 0.00 243 18 6.90 TCF20 0 genome.wustl.edu 37 22 42606752 42606752 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 22 42606752 42606752 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.4560 p.T1520 0.001 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 66 0 0.00 33 13 28.26 TDRD6 0 genome.wustl.edu 37 6 46656366 46656366 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 46656366 46656366 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.501 p.H167 0.634 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 44 0 0.00 9 18 66.67 TECTA 0 genome.wustl.edu 37 11 121028656 121028656 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 121028656 121028656 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4412 p.A1471V 0.995 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 29 0 0.00 18 2 10.00 TEX264 0 genome.wustl.edu 37 3 51718507 51718507 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 51718507 51718507 G A SNP TEX264 ENST00000341333 human ensembl 74_37 +1 known missense c.337 p.D113N 0.483 superfamily_Reg_factor_effector_dom superfamily_Reg_factor_effector_dom - no_errors TEX264 HGNC ENSG00000164081 36 0 0.00 28 2 6.67 TF 0 genome.wustl.edu 37 3 133485131 133485131 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 133485131 133485131 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1340 p.A447V 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 56 0 0.00 50 4 7.41 TGM6 0 genome.wustl.edu 37 20 2384435 2384435 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 2384435 2384435 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.1302 p.R434 0.138 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 19 0 0.00 27 10 27.03 THAP5 0 genome.wustl.edu 37 7 108205425 108205425 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 108205425 108205425 G C SNP THAP5 ENST00000415914 human ensembl 74_37 -1 known missense c.398 p.T133R 0.001 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 tier1 - - 94 0 0.00 136 22 13.92 THSD7A 0 genome.wustl.edu 37 7 11501765 11501765 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 11501765 11501765 A G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2374 p.S792P 0.001 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 20 0 0.00 11 3 21.43 TIE1 0 genome.wustl.edu 37 1 43779725 43779726 + RNA DEL TG TG - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 43779725 43779726 TG - DEL TIE1 ENST00000471187 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 tier1 16 0 0.00 13 3 18.75 TMEM102 0 genome.wustl.edu 37 17 7339829 7339829 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 7339829 7339829 G A SNP TMEM102 ENST00000323206 human ensembl 74_37 +1 known silent c.531 p.T177 0.000 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 tier1 - - 55 0 0.00 43 4 8.51 TMEM106C 0 genome.wustl.edu 37 12 48360478 48360478 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 48360478 48360478 G T SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.565 p.G189W 0.031 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 63 0 0.00 34 2 5.56 TMEM117 0 genome.wustl.edu 37 12 44782403 44782403 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 44782403 44782403 C T SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.1493 p.A498V 0.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 16 0 0.00 9 5 35.71 TMEM132D 0 genome.wustl.edu 37 12 129566470 129566470 + Missense_Mutation SNP T T C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 129566470 129566470 T C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1757 p.E586G 0.974 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 77 0 0.00 50 8 13.79 TNIK 0 genome.wustl.edu 37 3 170875251 170875251 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 170875251 170875251 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.1219 p.E407K 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 - - 61 0 0.00 46 9 16.36 TNXB 0 genome.wustl.edu 37 6 32011608 32011608 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 32011608 32011608 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.11442 p.I3814 0.038 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 TNXB HGNC ENSG00000168477 64 0 0.00 53 3 5.36 TOMM40L 0 genome.wustl.edu 37 1 161198299 161198299 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 161198299 161198299 G A SNP TOMM40L ENST00000475793 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors TOMM40L HGNC ENSG00000158882 tier1 - - 30 0 0.00 36 20 35.71 TOR1A 0 genome.wustl.edu 37 9 132580868 132580868 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 132580868 132580868 G T SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.679 p.Q227K 0.799 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 65 0 0.00 43 4 8.51 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 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 tier1 - - 70 0 0.00 10 29 74.36 TRIM37 0 genome.wustl.edu 37 17 57079002 57079002 + Silent SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 57079002 57079002 C A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known silent c.2769 p.G923 0.010 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 tier1 - - 38 0 0.00 9 28 75.68 TRMT13 0 genome.wustl.edu 37 1 100606486 100606486 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 100606486 100606486 G T SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known nonsense c.580 p.G194* 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 57 0 0.00 38 2 5.00 TTC21A 0 genome.wustl.edu 37 3 39151696 39151696 + Missense_Mutation SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 3 39151696 39151696 A C SNP TTC21A ENST00000425163 human ensembl 74_37 +1 known missense c.334 p.T112P 0.003 NULL NULL - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 29 0 0.00 7 9 56.25 TTC3 0 genome.wustl.edu 37 21 38537906 38537906 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 21 38537906 38537906 G T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.3390 p.M1130I 0.961 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 107 0 0.00 73 4 5.19 TTC3 0 genome.wustl.edu 37 21 38537977 38537977 + Missense_Mutation SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 21 38537977 38537977 C A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.3461 p.P1154H 0.937 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 52 0 0.00 37 15 28.85 TTC39A 0 genome.wustl.edu 37 1 51768201 51768201 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 51768201 51768201 G T SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.916 p.P306T 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 67 0 0.00 62 4 5.97 TTLL9 0 genome.wustl.edu 37 20 30512818 30512818 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 30512818 30512818 A G SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.671 p.K224R 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 tier1 - - 41 0 0.00 23 17 42.50 TXLNG 0 genome.wustl.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 16850849 16850850 AG - DEL TXLNG ENST00000380122 human ensembl 74_37 +1 known frame_shift_del c.968_969 p.R326fs 1.000:1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 tier1 30 0 0.00 31 3 8.82 TXLNG2P 0 genome.wustl.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 Y 21758039 21758039 A - DEL TXLNG2P ENST00000253320 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors TXLNG2P HGNC ENSG00000131002 tier1 18 0 0.00 7 4 36.36 UFL1 0 genome.wustl.edu 37 6 96997405 96997405 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 6 96997405 96997405 C G SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known missense c.1638 p.N546K 0.957 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 tier1 - - 60 0 0.00 29 25 44.64 UGT1A4 0 genome.wustl.edu 37 2 234627801 234627801 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 234627801 234627801 G C SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.335 p.R112T 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 - - 54 0 0.00 37 9 18.75 UNC13C 0 genome.wustl.edu 37 15 54586259 54586259 + Missense_Mutation SNP T T G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 15 54586259 54586259 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3985 p.L1329V 0.973 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 41 0 0.00 20 5 20.00 UNC79 0 genome.wustl.edu 37 14 94008860 94008860 + Silent SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 14 94008860 94008860 C A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.1573 p.R525 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 46 0 0.00 13 19 59.38 URB2 0 genome.wustl.edu 37 1 229771578 229771578 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 229771578 229771578 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.1218 p.P406 0.016 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 30 0 0.00 25 10 28.57 USH2A 0 genome.wustl.edu 37 1 216373262 216373262 + Nonsense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 216373262 216373262 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known nonsense c.3518 p.S1173* 0.818 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 44 0 0.00 32 2 5.88 USP24 0 genome.wustl.edu 37 1 55569688 55569688 + Missense_Mutation SNP C C G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 55569688 55569688 C G SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4406 p.S1469T 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 18 0 0.00 10 4 28.57 VAPB 0 genome.wustl.edu 37 20 57020741 57020742 + RNA DEL TG TG - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 57020741 57020742 TG - DEL VAPB ENST00000265619 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors VAPB HGNC ENSG00000124164 tier1 18 0 0.00 20 4 16.67 VCAN 0 genome.wustl.edu 37 5 82832776 82832776 + RNA SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 82832776 82832776 A G SNP VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors VCAN HGNC ENSG00000038427 tier1 - - 46 0 0.00 31 4 11.43 VEGFC 0 genome.wustl.edu 37 4 177608420 177608420 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 177608420 177608420 C T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.1066 p.G356R 0.987 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 89 0 0.00 21 52 71.23 VRK2 0 genome.wustl.edu 37 2 58275980 58275980 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 2 58275980 58275980 G T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.14 p.R5I 0.692 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 31 0 0.00 26 2 7.14 VWC2 0 genome.wustl.edu 37 7 49815551 49815551 + Frame_Shift_Del DEL T T - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 7 49815551 49815551 T 0 DEL VWC2 ENST00000340652 human ensembl 74_37 +1 known frame_shift_del c.520 p.S174fs 1.000 smart_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 8 0 0.00 4 2 33.33 WDFY3 0 genome.wustl.edu 37 4 85696071 85696071 + Silent SNP A A C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 4 85696071 85696071 A C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.4656 p.T1552 0.978 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 57 0 0.00 15 21 58.33 WDR66 0 genome.wustl.edu 37 12 122359577 122359577 + Silent SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 12 122359577 122359577 A G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.366 p.S122 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 46 0 0.00 21 3 12.50 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 54358513 54358513 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.784 p.G262W 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 54 0 0.00 23 2 8.00 WDR74 0 genome.wustl.edu 37 11 62606983 62606983 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 62606983 62606983 C T SNP WDR74 ENST00000278856 human ensembl 74_37 -1 known silent c.60 p.L20 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR74 HGNC ENSG00000133316 tier1 - - 64 0 0.00 40 18 31.03 WSB1 0 genome.wustl.edu 37 17 25634774 25634774 + Missense_Mutation SNP T T A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 17 25634774 25634774 T A SNP WSB1 ENST00000427287 human ensembl 74_37 +1 putative missense c.623 p.V208E 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WSB1 HGNC ENSG00000109046 tier1 - - 43 0 0.00 35 4 10.26 XIST 0 genome.wustl.edu 37 X 73071845 73071846 + RNA INS - - A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 73071845 73071846 - A INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 54 0 0.00 52 6 10.34 ZBED1 0 genome.wustl.edu 37 X 2406811 2406811 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 2406811 2406811 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.1950 p.N650 0.611 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 - - 120 0 0.00 19 58 75.32 ZC3H7A 0 genome.wustl.edu 37 16 11855856 11855856 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 16 11855856 11855856 A G SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.2123 p.I708T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 tier1 - - 65 0 0.00 15 18 54.55 ZCCHC6 0 genome.wustl.edu 37 9 88967671 88967671 + Silent SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 9 88967671 88967671 G A SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known silent c.444 p.C148 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 53 0 0.00 38 3 7.32 ZDHHC5 0 genome.wustl.edu 37 11 57464282 57464282 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 11 57464282 57464282 G T SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.1059 p.K353N 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 tier1 - - 41 0 0.00 14 13 48.15 ZMAT1 0 genome.wustl.edu 37 X 101152886 101152886 + Missense_Mutation SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 X 101152886 101152886 C T SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.460 p.E154K 0.003 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 35 0 0.00 37 4 9.76 ZMYM2 0 genome.wustl.edu 37 13 20633622 20633622 + Missense_Mutation SNP A A T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 13 20633622 20633622 A T SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.2659 p.I887F 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 tier1 - - 83 0 0.00 27 53 66.25 ZNF335 0 genome.wustl.edu 37 20 44592682 44592682 + RNA SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 20 44592682 44592682 G A SNP ZNF335 ENST00000475002 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 42 0 0.00 22 17 43.59 ZNF436 0 genome.wustl.edu 37 1 23689057 23689057 + Missense_Mutation SNP G G A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 1 23689057 23689057 G A SNP ZNF436 ENST00000314011 human ensembl 74_37 -1 known missense c.818 p.T273M 1.000 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 ZNF436 HGNC ENSG00000125945 tier1 - - 40 0 0.00 13 8 38.10 ZNF474 0 genome.wustl.edu 37 5 121487982 121487982 + Silent SNP C C T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 5 121487982 121487982 C T SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known silent c.297 p.I99 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 tier1 - - 26 0 0.00 12 3 20.00 ZNF492 0 genome.wustl.edu 37 19 22847875 22847875 + Missense_Mutation SNP G G C TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 22847875 22847875 G C SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.1404 p.K468N 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 82 0 0.00 34 3 8.11 ZNF511 0 genome.wustl.edu 37 10 135165925 135165925 + Missense_Mutation SNP A A G TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 10 135165925 135165925 A G SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known missense c.914 p.H305R 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 tier1 - - 34 0 0.00 6 9 56.25 ZNF521 0 genome.wustl.edu 37 18 22806877 22806877 + Silent SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 18 22806877 22806877 C A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1005 p.P335 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 38 0 0.00 27 2 6.90 ZNF582 0 genome.wustl.edu 37 19 56896146 56896146 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 56896146 56896146 G T SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.640 p.L214I 0.009 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 ZNF582 HGNC ENSG00000018869 61 0 0.00 33 3 8.33 ZNF584 0 genome.wustl.edu 37 19 58928627 58928627 + Missense_Mutation SNP G G T TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 210a2cc2-09cb-4b7a-8224-bede07eaa095 649ea019-02b4-46a5-8468-a38e572e7595 19 58928627 58928627 G T SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.742 p.G248C 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 ZNF584 HGNC ENSG00000171574 tier1 - - 50 0 0.00 30 4 11.76