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 AASDH 0 genome.wustl.edu 37 4 57220226 57220226 + Silent SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 57220226 57220226 A G SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.1362 p.L454 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 65 0 0.00 56 4 6.67 ACACA 0 genome.wustl.edu 37 17 35581952 35581952 + Silent SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 35581952 35581952 A T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.3435 p.I1145 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 70 0 0.00 58 4 6.45 ACSL3 0 genome.wustl.edu 37 2 223791822 223791822 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 223791822 223791822 G T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.1380 p.Q460H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 tier1 - - 56 0 0.00 19 20 51.28 ACTB 0 genome.wustl.edu 37 7 5568131 5568131 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 5568131 5568131 C T SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.583 p.E195K 0.993 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 tier1 - - 102 0 0.00 61 24 28.24 ACY1 0 genome.wustl.edu 37 3 52020476 52020476 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 52020476 52020476 G T SNP ACY1 ENST00000458031 human ensembl 74_37 +1 known missense c.752 p.R251L 0.999 pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 107 0 0.00 44 3 6.38 ADAM18 0 genome.wustl.edu 37 8 39466616 39466616 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 39466616 39466616 C A SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.244 p.H82N 0.006 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 34 0 0.00 14 10 41.67 ADAMTS18 0 genome.wustl.edu 37 16 77327044 77327044 + Nonsense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 77327044 77327044 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known nonsense c.3118 p.Q1040* 0.993 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 34 0 0.00 36 3 7.69 ADAMTS20 0 genome.wustl.edu 37 12 43858461 43858461 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 43858461 43858461 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.1442 p.S481L 0.014 NULL 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 ADAMTS20 HGNC ENSG00000173157 75 0 0.00 38 2 5.00 ADNP2 0 genome.wustl.edu 37 18 77896383 77896383 + Silent SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 77896383 77896383 T C SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.3087 p.P1029 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 121 0 0.00 47 4 7.84 AGO2 0 genome.wustl.edu 37 8 141561493 141561493 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 141561493 141561493 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1312 p.R438W 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 95 0 0.00 66 4 5.71 AHNAK2 0 genome.wustl.edu 37 14 105414400 105414400 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 105414400 105414400 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7388 p.A2463V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 121 0 0.00 76 4 5.00 AKAP6 0 genome.wustl.edu 37 14 33293482 33293482 + Frame_Shift_Del DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 33293482 33293482 T - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.6463 p.F2156fs 0.998 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 17 0 0.00 21 2 8.70 ALG12 0 genome.wustl.edu 37 22 50303571 50303571 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 50303571 50303571 T C SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known missense c.635 p.H212R 0.497 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 138 0 0.00 74 4 5.06 AMMECR1L 0 genome.wustl.edu 37 2 128624513 128624513 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 128624513 128624513 G A SNP AMMECR1L ENST00000272647 human ensembl 74_37 -1 known missense c.782 p.P261L 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 107 0 0.00 71 5 6.49 ANGPTL2 0 genome.wustl.edu 37 9 129854026 129854026 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 129854026 129854026 C T SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.1205 p.G402D 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 57 0 0.00 29 4 12.12 AOX1 0 genome.wustl.edu 37 2 201467012 201467012 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 201467012 201467012 C A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.442 p.L148M 0.998 pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 73 0 0.00 20 4 16.67 AQP12B 0 genome.wustl.edu 37 2 241615877 241615877 + RNA SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 241615877 241615877 C T SNP AQP12B ENST00000459806 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors AQP12B HGNC ENSG00000185176 tier1 - - 20 0 0.00 9 3 25.00 ARHGEF16 0 genome.wustl.edu 37 1 3389659 3389659 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 3389659 3389659 A T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.1040 p.E347V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 tier1 - - 42 0 0.00 11 23 67.65 ARHGEF33 0 genome.wustl.edu 37 2 39164609 39164609 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 39164609 39164609 C T SNP ARHGEF33 ENST00000398800 human ensembl 74_37 +1 known silent c.699 p.Y233 0.998 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ENSG00000214694 tier1 - - 80 0 0.00 48 4 7.69 ATAD5 0 genome.wustl.edu 37 17 29161257 29161257 + Frame_Shift_Del DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 29161257 29161257 T - DEL ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_del c.158 p.F54fs 0.997 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 53 0 0.00 32 3 8.57 ATG7 0 genome.wustl.edu 37 3 11389409 11389409 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 11389409 11389409 C T SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.1184 p.P395L 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 tier1 - - 43 0 0.00 13 3 18.75 B4GALT7 0 genome.wustl.edu 37 5 177036004 177036004 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 177036004 177036004 G T SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.817 p.A273S 0.977 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 65 0 0.00 29 2 6.45 BANK1 0 genome.wustl.edu 37 4 102942701 102942701 + Missense_Mutation SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 102942701 102942701 G C SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.1237 p.E413Q 0.991 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 43 0 0.00 33 15 31.25 BCAS3 0 genome.wustl.edu 37 17 59067400 59067400 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 59067400 59067400 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.1290 p.H430 0.918 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 90 0 0.00 70 4 5.41 BHLHE41 0 genome.wustl.edu 37 12 26277481 26277481 + Missense_Mutation SNP T T G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 26277481 26277481 T G SNP BHLHE41 ENST00000242728 human ensembl 74_37 -1 known missense c.97 p.K33Q 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE41 HGNC ENSG00000123095 78 0 0.00 49 4 7.55 BRAP 0 genome.wustl.edu 37 12 112093423 112093423 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 112093423 112093423 G T SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.1258 p.R420 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 68 0 0.00 36 3 7.69 BRWD1 0 genome.wustl.edu 37 21 40571465 40571465 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 21 40571465 40571465 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.4877 p.R1626Q 0.986 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 64 0 0.00 27 2 6.90 C10orf67 0 genome.wustl.edu 37 10 23622110 23622110 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 23622110 23622110 G T SNP C10orf67 ENST00000323327 human ensembl 74_37 -1 known missense c.211 p.L71I 0.001 NULL NULL - no_errors C10orf67 HGNC ENSG00000179133 65 0 0.00 30 2 6.25 C14orf1 0 genome.wustl.edu 37 14 76117945 76117945 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 76117945 76117945 G A SNP C14orf1 ENST00000256319 human ensembl 74_37 -1 known missense c.376 p.R126W 1.000 NULL pfam_Erg28 - no_errors C14orf1 HGNC ENSG00000133935 70 0 0.00 33 2 5.71 C5 0 genome.wustl.edu 37 9 123759888 123759888 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 123759888 123759888 G T SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.2727 p.N909K 0.140 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 tier1 - - 67 0 0.00 70 4 5.41 C9orf169 0 genome.wustl.edu 37 9 140120472 140120472 + Nonsense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 140120472 140120472 C A SNP C9orf169 ENST00000359069 human ensembl 74_37 +1 known nonsense c.399 p.C133* 1.000 pfam_UPF0574 pfam_UPF0574 - no_errors C9orf169 HGNC ENSG00000197191 51 0 0.00 27 4 12.90 CASD1 0 genome.wustl.edu 37 7 94167097 94167097 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 94167097 94167097 G A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.1157 p.R386H 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 50 0 0.00 32 2 5.88 CD109 0 genome.wustl.edu 37 6 74519854 74519854 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 74519854 74519854 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.3503 p.L1168P 0.992 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 33 0 0.00 18 2 10.00 CDCA7L 0 genome.wustl.edu 37 7 21945184 21945184 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 21945184 21945184 G A SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known silent c.987 p.T329 0.646 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 42 0 0.00 28 2 6.67 CDH15 0 genome.wustl.edu 37 16 89259946 89259946 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 89259946 89259946 G T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.1924 p.G642C 0.483 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 71 0 0.00 38 2 5.00 CDHR4 0 genome.wustl.edu 37 3 49834363 49834363 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 49834363 49834363 C T SNP CDHR4 ENST00000412678 human ensembl 74_37 -1 known missense c.598 p.A200T 0.841 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 tier1 - - 103 0 0.00 40 4 9.09 CDS2 0 genome.wustl.edu 37 20 5107779 5107779 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 20 5107779 5107779 C T SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.41 p.A14V 0.020 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 tier1 - - 22 0 0.00 17 4 19.05 CELA2B 0 genome.wustl.edu 37 1 15807634 15807634 + Silent SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 15807634 15807634 C A SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known silent c.171 p.T57 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 71 0 0.00 51 4 7.27 CEP152 0 genome.wustl.edu 37 15 49054609 49054609 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 49054609 49054609 A T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.2541 p.H847Q 0.364 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 47 0 0.00 35 4 10.26 CILP2 0 genome.wustl.edu 37 19 19654602 19654602 + Silent SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 19654602 19654602 C A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.1248 p.P416 0.010 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 72 0 0.00 51 3 5.45 CLPTM1L 0 genome.wustl.edu 37 5 1341903 1341903 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 1341903 1341903 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known silent c.336 p.H112 0.161 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 tier1 rs138976877 - 60 0 0.00 27 15 35.71 COL12A1 0 genome.wustl.edu 37 6 75892984 75892984 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 75892984 75892984 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1673 p.R558I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 84 0 0.00 43 3 6.38 COL18A1 0 genome.wustl.edu 37 21 46893894 46893894 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 21 46893894 46893894 G T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.1982 p.G661V 0.896 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 76 0 0.00 25 9 26.47 COQ10B 0 genome.wustl.edu 37 2 198318586 198318586 + RNA SNP C C G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 198318586 198318586 C G SNP COQ10B ENST00000488445 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COQ10B HGNC ENSG00000115520 tier1 - - 54 0 0.00 21 10 32.26 COX6B2 0 genome.wustl.edu 37 19 55865104 55865104 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 55865104 55865104 G T SNP COX6B2 ENST00000326529 human ensembl 74_37 -1 known missense c.252 p.F84L 0.019 superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B - no_errors COX6B2 HGNC ENSG00000160471 81 0 0.00 68 4 5.56 CSMD2 0 genome.wustl.edu 37 1 34025005 34025005 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 34025005 34025005 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8449 p.D2817N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD2 HGNC ENSG00000121904 tier1 - - 75 0 0.00 67 37 35.58 CSPP1 0 genome.wustl.edu 37 8 68092096 68092096 + Splice_Site SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 68092096 68092096 A G SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known splice_site c.3142-2 e26-2 1.000 - - - no_errors CSPP1 HGNC ENSG00000104218 tier1 - - 42 0 0.00 33 4 10.81 CWF19L1 0 genome.wustl.edu 37 10 102016226 102016226 + Silent SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 102016226 102016226 T C SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known silent c.297 p.K99 0.999 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 tier1 - - 62 0 0.00 33 16 32.65 DBN1 0 genome.wustl.edu 37 5 176885170 176885170 + Silent SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 176885170 176885170 A T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known silent c.1671 p.A557 0.958 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 tier1 - - 128 0 0.00 41 4 8.89 DCAF8 0 genome.wustl.edu 37 1 160201124 160201124 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 160201124 160201124 G T SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.1495 p.H499N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 99 0 0.00 74 4 5.13 DCAF8L1 0 genome.wustl.edu 37 X 27998247 27998247 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 27998247 27998247 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.1205 p.G402D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 tier1 - - 42 0 0.00 23 4 14.81 DCLRE1A 0 genome.wustl.edu 37 10 115608957 115608957 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 115608957 115608957 T A SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.1907 p.K636M 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 30 0 0.00 26 2 7.14 DDX60L 0 genome.wustl.edu 37 4 169340523 169340523 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 169340523 169340523 A T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.2540 p.F847Y 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 70 0 0.00 29 2 6.45 DGKI 0 genome.wustl.edu 37 7 137255958 137255958 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 137255958 137255958 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1910 p.G637D 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 69 0 0.00 44 4 8.33 DLD 0 genome.wustl.edu 37 7 107542770 107542770 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 107542770 107542770 A T SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.199 p.T67S 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,prints_Hg_reductase,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 82 0 0.00 65 4 5.80 DLGAP3 0 genome.wustl.edu 37 1 35370962 35370962 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 35370962 35370962 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.23 p.R8Q 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 68 0 0.00 77 12 13.48 DLGAP4 0 genome.wustl.edu 37 20 35154319 35154319 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 20 35154319 35154319 G T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.2670 p.L890 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 58 0 0.00 40 3 6.98 DNAH10 0 genome.wustl.edu 37 12 124267779 124267779 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 124267779 124267779 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.784 p.A262S 0.934 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 99 0 0.00 62 4 6.06 DNAH6 0 genome.wustl.edu 37 2 85046517 85046517 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 85046517 85046517 C T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.12462 p.C4154 1.000 pfam_Dynein_heavy_dom 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 - - 70 0 0.00 47 4 7.84 DSC2 0 genome.wustl.edu 37 18 28662348 28662348 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 28662348 28662348 G T SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known silent c.1119 p.I373 0.473 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 tier1 - - 101 0 0.00 86 14 14.00 DTWD1 0 genome.wustl.edu 37 15 49926993 49926994 + Splice_Site INS - - A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 49926993 49926994 - A INS DTWD1 ENST00000251250 human ensembl 74_37 +1 known splice_site_ins c.667+2_667+1 e3+2 1.000:1.000 - - - no_errors DTWD1 HGNC ENSG00000104047 tier1 31 0 0.00 26 4 13.33 DTX2 0 genome.wustl.edu 37 7 76110027 76110027 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 76110027 76110027 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.201 p.Q67 0.507 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 72 0 0.00 35 4 10.26 EBF2 0 genome.wustl.edu 37 8 25744358 25744358 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 25744358 25744358 G A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.922 p.R308W 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 136 0 0.00 68 4 5.56 ENOX2 0 genome.wustl.edu 37 X 129803957 129803957 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 129803957 129803957 C T SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.763 p.V255I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 tier1 - - 21 0 0.00 9 3 25.00 ENSG00000221749 0 genome.wustl.edu 37 12 129154486 129154486 + RNA SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 129154486 129154486 A G SNP ENSG00000221749 ENST00000408822 human ensembl 74_37 -1 novel rna NULL NULL 0.391 - - - no_errors AC107020.1 Clone_based_ensembl_gene ENSG00000221749 tier1 - - 72 0 0.00 18 16 47.06 ENSG00000254246 0 genome.wustl.edu 37 5 156531839 156531839 + RNA DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 156531839 156531839 A - DEL ENSG00000254246 ENST00000517708 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-120L21.1 Clone_based_vega_gene ENSG00000254246 tier1 55 0 0.00 26 3 10.34 ENSG00000260772 0 genome.wustl.edu 37 16 69738348 69738348 + RNA SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 69738348 69738348 A T SNP ENSG00000260772 ENST00000561622 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-311C24.1 Clone_based_vega_gene ENSG00000260772 tier1 - - 81 0 0.00 44 19 30.16 ERCC3 0 genome.wustl.edu 37 2 128036799 128036799 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 128036799 128036799 G T SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known silent c.1680 p.V560 0.849 superfamily_P-loop_NTPase,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 tier1 - - 103 0 0.00 34 18 34.62 FA2H 0 genome.wustl.edu 37 16 74752979 74752979 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 74752979 74752979 G A SNP FA2H ENST00000567683 human ensembl 74_37 -1 known missense c.443 p.T148I 1.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 tier1 - - 55 0 0.00 48 4 7.69 FAM105B 0 genome.wustl.edu 37 5 14687651 14687651 + Nonsense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 14687651 14687651 A T SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known nonsense c.490 p.K164* 0.352 prints_FAM105B prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 87 0 0.00 66 4 5.63 FAM155A 0 genome.wustl.edu 37 13 108518145 108518145 + Missense_Mutation SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 13 108518145 108518145 G C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.800 p.A267G 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 55 0 0.00 26 11 29.73 FAM161A 0 genome.wustl.edu 37 2 62080999 62080999 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 62080999 62080999 C T SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.178 p.A60T 0.060 NULL pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 91 0 0.00 47 4 7.84 FAM214A 0 genome.wustl.edu 37 15 52879367 52879367 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 52879367 52879367 G T SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.2858 p.P953H 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 tier1 - - 106 0 0.00 56 4 6.67 FAM49A 0 genome.wustl.edu 37 2 16745363 16745363 + Splice_Site SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 16745363 16745363 C A SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known splice_site c.193-1 e3-1 1.000 - - - no_errors FAM49A HGNC ENSG00000197872 69 0 0.00 33 2 5.71 FBXO38 0 genome.wustl.edu 37 5 147793797 147793798 + Frame_Shift_Ins INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 147793797 147793798 - T INS FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_ins c.1192_1193 p.S400fs 1.000:1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 tier1 37 0 0.00 21 2 8.70 FBXO8 0 genome.wustl.edu 37 4 175158640 175158640 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 175158640 175158640 C A SNP FBXO8 ENST00000393674 human ensembl 74_37 -1 known missense c.883 p.A295S 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_F-box_dom,smart_Sec7_dom,pfscan_F-box_dom,pfscan_Sec7_dom - no_errors FBXO8 HGNC ENSG00000164117 42 0 0.00 16 2 11.11 FEM1C 0 genome.wustl.edu 37 5 114860292 114860292 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 114860292 114860292 C T SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.1567 p.V523I 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 77 0 0.00 29 2 6.45 FEN1 0 genome.wustl.edu 37 11 61562992 61562992 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 61562992 61562992 G A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known silent c.159 p.L53 0.993 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 tier1 - - 92 0 0.00 55 4 6.78 FGF5 0 genome.wustl.edu 37 4 81189430 81189430 + RNA SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 81189430 81189430 C A SNP FGF5 ENST00000503413 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FGF5 HGNC ENSG00000138675 tier1 - - 29 0 0.00 10 4 28.57 FGF5 0 genome.wustl.edu 37 4 81208235 81208236 + RNA INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 81208235 81208236 - T INS FGF5 ENST00000503413 human ensembl 74_37 +1 known rna NULL NULL 0.109:0.035 - - - no_errors FGF5 HGNC ENSG00000138675 tier1 58 0 0.00 37 4 9.76 FKBP9 0 genome.wustl.edu 37 7 33044838 33044838 + Missense_Mutation SNP C C G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 33044838 33044838 C G SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known missense c.1747 p.P583A 0.994 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 135 0 0.00 90 7 7.22 FKBP9L 0 genome.wustl.edu 37 7 55750467 55750467 + RNA SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 55750467 55750467 G C SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors FKBP9L HGNC ENSG00000176826 tier1 - - 78 0 0.00 28 9 24.32 FLJ46361 0 genome.wustl.edu 37 10 124536328 124536328 + Splice_Site SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 124536328 124536328 A G SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 57 0 0.00 42 3 6.67 FOXM1 0 genome.wustl.edu 37 12 2983434 2983434 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 2983434 2983434 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.211 p.P71S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 60 0 0.00 44 4 8.33 FRAS1 0 genome.wustl.edu 37 4 79432599 79432599 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 79432599 79432599 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.9952 p.A3318T 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 74 0 0.00 40 4 9.09 FSCN2 0 genome.wustl.edu 37 17 79502107 79502107 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 79502107 79502107 G A SNP FSCN2 ENST00000334850 human ensembl 74_37 +1 known missense c.856 p.E286K 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC ENSG00000186765 tier1 - - 29 0 0.00 11 8 42.11 FTSJ3 0 genome.wustl.edu 37 17 61899154 61899155 + In_Frame_Ins INS - - CTC TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 61899154 61899155 - CTC INS FTSJ3 ENST00000427159 human ensembl 74_37 -1 known in_frame_ins c.1525_1524 p.508in_frame_insE 1.000:0.886 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 32 0 0.00 17 4 19.05 FYTTD1 0 genome.wustl.edu 37 3 197508914 197508915 + RNA INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 197508914 197508915 - T INS FYTTD1 ENST00000492360 human ensembl 74_37 +1 putative rna NULL NULL 0.017:0.208 - - - no_errors FYTTD1 HGNC ENSG00000122068 tier1 8 0 0.00 22 5 18.52 GAD1 0 genome.wustl.edu 37 2 171687588 171687588 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 171687588 171687588 C T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.433 p.H145Y 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 tier1 - - 84 0 0.00 60 4 6.25 GADD45B 0 genome.wustl.edu 37 19 2476577 2476577 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 2476577 2476577 G A SNP GADD45B ENST00000215631 human ensembl 74_37 +1 known missense c.95 p.R32H 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC ENSG00000099860 tier1 - - 62 0 0.00 47 4 7.84 GARS 0 genome.wustl.edu 37 7 30642730 30642730 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 30642730 30642730 T C SNP GARS ENST00000389266 human ensembl 74_37 +1 known missense c.650 p.L217P 0.998 pfam_aa-tRNA-synt_IIb_cons-dom,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 107 0 0.00 69 4 5.48 GGCX 0 genome.wustl.edu 37 2 85778646 85778646 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 85778646 85778646 G A SNP GGCX ENST00000233838 human ensembl 74_37 -1 known missense c.1697 p.A566V 1.000 superfamily_RmlC_Cupin pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 tier1 - - 64 0 0.00 21 4 16.00 GIGYF2 0 genome.wustl.edu 37 2 233681605 233681605 + Nonsense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 233681605 233681605 G T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.2299 p.E767* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 55 0 0.00 20 3 13.04 GIGYF2 0 genome.wustl.edu 37 2 233681731 233681731 + Nonsense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 233681731 233681731 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.2425 p.R809* 0.993 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 81 0 0.00 35 2 5.41 GJA8 0 genome.wustl.edu 37 1 147380384 147380384 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 147380384 147380384 G T SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.302 p.R101L 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 tier1 - - 31 0 0.00 16 19 52.78 GON4L 0 genome.wustl.edu 37 1 155735075 155735075 + Missense_Mutation SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 155735075 155735075 G C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.4189 p.P1397A 0.003 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 40 0 0.00 27 2 6.90 GPC6 0 genome.wustl.edu 37 13 94482729 94482729 + Silent SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 13 94482729 94482729 C A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.642 p.A214 0.996 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 127 0 0.00 48 34 41.46 GRPEL2 0 genome.wustl.edu 37 5 148725164 148725164 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 148725164 148725164 C T SNP GRPEL2 ENST00000329271 human ensembl 74_37 +1 known missense c.62 p.A21V 0.001 NULL pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL2 HGNC ENSG00000164284 84 0 0.00 37 4 9.76 GYS1 0 genome.wustl.edu 37 19 49488805 49488805 + Frame_Shift_Del DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 49488805 49488805 T - DEL GYS1 ENST00000323798 human ensembl 74_37 -1 known frame_shift_del c.736 p.R246fs 1.000 pfam_Glycogen_synth,pfam_Starch_synth_cat_dom pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 tier1 42 0 0.00 30 2 6.25 HHIPL2 0 genome.wustl.edu 37 1 222713615 222713615 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 222713615 222713615 C A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.1187 p.R396L 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 - - 87 0 0.00 72 4 5.26 HIP1 0 genome.wustl.edu 37 7 75182803 75182803 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 75182803 75182803 G T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known silent c.2244 p.A748 0.544 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 tier1 - - 64 0 0.00 54 4 6.90 HLA-DRB1 0 genome.wustl.edu 37 6 32551952 32551953 + Frame_Shift_Del DEL CC CC - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 32551952 32551953 CC - DEL HLA-DRB1 ENST00000360004 human ensembl 74_37 -1 known frame_shift_del c.304_303 p.A102fs 0.195:0.185 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB1 HGNC ENSG00000196126 tier1 10 0 0.00 4 2 33.33 HOMER1 0 genome.wustl.edu 37 5 78671920 78671921 + Frame_Shift_Ins INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 78671920 78671921 - T INS HOMER1 ENST00000334082 human ensembl 74_37 -1 known frame_shift_ins c.977_976 p.L326fs 1.000:1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 tier1 56 0 0.00 16 2 11.11 HRC 0 genome.wustl.edu 37 19 49656964 49656964 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 49656964 49656964 G A SNP HRC ENST00000252825 human ensembl 74_37 -1 known missense c.1531 p.H511Y 0.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 tier1 - - 22 0 0.00 14 13 48.15 IARS 0 genome.wustl.edu 37 9 95009691 95009691 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 95009691 95009691 C T SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2759 p.S920N 0.064 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 35 0 0.00 17 4 19.05 ING3 0 genome.wustl.edu 37 7 120595654 120595654 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 120595654 120595654 G T SNP ING3 ENST00000315870 human ensembl 74_37 +1 known missense c.243 p.Q81H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 47 0 0.00 31 2 6.06 INSIG1 0 genome.wustl.edu 37 7 155094456 155094456 + Splice_Site SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 155094456 155094456 G A SNP INSIG1 ENST00000340368 human ensembl 74_37 +1 known splice_site c.705-1 e4-1 1.000 - - - no_errors INSIG1 HGNC ENSG00000186480 tier1 rs112769976 - 123 0 0.00 62 5 7.46 IQGAP3 0 genome.wustl.edu 37 1 156508933 156508933 + RNA SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 156508933 156508933 C T SNP IQGAP3 ENST00000498755 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 19 0 0.00 3 5 62.50 JAKMIP2 0 genome.wustl.edu 37 5 147024553 147024553 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 147024553 147024553 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.943 p.R315C 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 55 0 0.00 33 2 5.71 KARS 0 genome.wustl.edu 37 16 75670405 75670405 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 75670405 75670405 G T SNP KARS ENST00000564578 human ensembl 74_37 -1 known missense c.347 p.S116Y 1.000 NULL NULL - no_errors KARS HGNC ENSG00000065427 78 0 0.00 34 3 8.11 KBTBD12 0 genome.wustl.edu 37 3 127642922 127642922 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 127642922 127642922 G A SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known missense c.1018 p.A340T 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 tier1 - - 63 0 0.00 38 4 9.52 KBTBD4 0 genome.wustl.edu 37 11 47599482 47599482 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 47599482 47599482 G A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.118 p.R40W 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 tier1 - - 45 0 0.00 22 15 40.54 KCNH5 0 genome.wustl.edu 37 14 63246448 63246448 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 63246448 63246448 G T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.2017 p.R673 0.976 prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 69 0 0.00 37 2 5.13 KCNH7 0 genome.wustl.edu 37 2 163253371 163253371 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 163253371 163253371 C T SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.2492 p.C831Y 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 50 0 0.00 37 2 5.13 KDR 0 genome.wustl.edu 37 4 55958878 55958878 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 55958878 55958878 G T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2975 p.P992H 0.997 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 75 0 0.00 51 4 7.14 KIF17 0 genome.wustl.edu 37 1 20998548 20998548 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 20998548 20998548 G T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2605 p.R869S 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 61 0 0.00 38 2 5.00 KLK10 0 genome.wustl.edu 37 19 51518085 51518085 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 51518085 51518085 A G SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known missense c.802 p.W268R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK10 HGNC ENSG00000129451 81 0 0.00 32 3 8.57 KLK11 0 genome.wustl.edu 37 19 51530744 51530744 + Frame_Shift_Del DEL C C - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 51530744 51530744 C - DEL KLK11 ENST00000594768 human ensembl 74_37 -1 known frame_shift_del c.30 p.W10fs 0.055 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 tier1 102 0 0.00 42 12 22.22 KPNA1 0 genome.wustl.edu 37 3 122168479 122168479 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 122168479 122168479 C T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.859 p.D287N 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 45 0 0.00 27 2 6.90 L3MBTL4 0 genome.wustl.edu 37 18 6215816 6215816 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 6215816 6215816 T A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.803 p.N268I 0.983 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 rs139480207 - 79 0 0.00 57 11 16.18 LAMA3 0 genome.wustl.edu 37 18 21393048 21393048 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 21393048 21393048 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.1769 p.G590D 0.959 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 30 0 0.00 21 2 8.70 LINC00615 0 genome.wustl.edu 37 12 91340252 91340253 + RNA INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 91340252 91340253 - T INS LINC00615 ENST00000546725 human ensembl 74_37 +1 known rna NULL NULL 0.092:0.148 - - - no_errors LINC00615 HGNC ENSG00000196243 tier1 37 0 0.00 19 3 13.64 LOC100996870 0 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs1133399 - 21 0 0.00 12 4 25.00 LOC100996870 0 genome.wustl.edu 37 9 66457322 66457322 + RNA SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 66457322 66457322 G C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.168 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 77 0 0.00 77 6 7.23 LOC728586 0 genome.wustl.edu 37 5 127133824 127133824 + RNA DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 127133824 127133824 A - DEL LOC728586 ENST00000514853 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors CTC-228N24.1 Clone_based_vega_gene ENSG00000230561 tier1 87 0 0.00 29 2 6.45 LRRC37A 0 genome.wustl.edu 37 17 44408828 44408828 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 44408828 44408828 T A SNP LRRC37A ENST00000320254 human ensembl 74_37 +1 known missense c.4185 p.N1395K 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 tier1 - - 92 0 0.00 67 4 5.63 MADD 0 genome.wustl.edu 37 11 47306054 47306054 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 47306054 47306054 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.2095 p.R699C 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 32 0 0.00 30 2 6.25 MAP4 0 genome.wustl.edu 37 3 47950671 47950671 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 47950671 47950671 C T SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.1061 p.G354E 0.010 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 tier1 - - 78 0 0.00 23 3 11.54 MAS1L 0 genome.wustl.edu 37 6 29455082 29455082 + Frame_Shift_Del DEL G G - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 29455082 29455082 G - DEL MAS1L ENST00000377127 human ensembl 74_37 -1 known frame_shift_del c.598 p.L200fs 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 51 0 0.00 17 2 10.53 MAST4 0 genome.wustl.edu 37 5 66396405 66396405 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 66396405 66396405 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.1064 p.R355H 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 87 0 0.00 31 2 6.06 MBD4 0 genome.wustl.edu 37 3 129151300 129151300 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 129151300 129151300 C A SNP MBD4 ENST00000507208 human ensembl 74_37 -1 novel missense c.1711 p.A571S 0.001 NULL pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 tier1 - - 55 0 0.00 29 4 12.12 MCMDC2 0 genome.wustl.edu 37 8 67796185 67796185 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 67796185 67796185 C T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known silent c.1029 p.C343 0.593 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 40 0 0.00 32 3 8.33 MED13 0 genome.wustl.edu 37 17 60129928 60129928 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 60129928 60129928 T C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.440 p.Y147C 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 81 0 0.00 44 4 8.33 MED20 0 genome.wustl.edu 37 6 41888792 41888792 + RNA SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 41888792 41888792 A G SNP MED20 ENST00000482361 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED20 HGNC ENSG00000124641 tier1 - - 49 0 0.00 15 17 53.12 MIER3 0 genome.wustl.edu 37 5 56234765 56234765 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 56234765 56234765 G T SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known missense c.260 p.A87E 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 tier1 - - 79 0 0.00 36 4 10.00 MKKS 0 genome.wustl.edu 37 20 10388353 10388353 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 20 10388353 10388353 G T SNP MKKS ENST00000347364 human ensembl 74_37 -1 known missense c.1183 p.H395N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 tier1 - - 50 0 0.00 37 4 9.76 MLIP 0 genome.wustl.edu 37 6 54002293 54002293 + Frame_Shift_Del DEL C C - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 54002293 54002293 C - DEL MLIP ENST00000502396 human ensembl 74_37 +1 putative frame_shift_del c.1426 p.P476fs 0.424 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 59 0 0.00 17 2 10.53 MPV17 0 genome.wustl.edu 37 2 27532772 27532772 + Silent SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 27532772 27532772 A G SNP MPV17 ENST00000402310 human ensembl 74_37 -1 novel silent c.486 p.P162 0.007 NULL NULL - no_errors MPV17 HGNC ENSG00000115204 tier1 - - 46 0 0.00 37 4 9.76 MRPS18A 0 genome.wustl.edu 37 6 43655404 43655404 + Splice_Site SNP C C G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 43655404 43655404 C G SNP MRPS18A ENST00000372133 human ensembl 74_37 -1 known splice_site c.112+1 e1+1 1.000 - - - no_errors MRPS18A HGNC ENSG00000096080 145 0 0.00 65 5 7.14 MST1R 0 genome.wustl.edu 37 3 49933711 49933712 + Frame_Shift_Ins INS - - A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 49933711 49933712 - A INS MST1R ENST00000296474 human ensembl 74_37 -1 known frame_shift_ins c.2566_2565 p.G855fs 0.073:0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 43 0 0.00 12 2 14.29 MT-RNR2 0 genome.wustl.edu 37 MT 1832 1832 + RNA SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 MT 1832 1832 A T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 15 0 0.00 5 2 28.57 MTTP 0 genome.wustl.edu 37 4 100540133 100540133 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 100540133 100540133 A T SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.2220 p.E740D 0.948 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 90 0 0.00 49 12 19.67 MUC4 0 genome.wustl.edu 37 3 195508454 195508455 + Frame_Shift_Ins INS - - C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 195508454 195508455 0 C INS MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_ins c.9997_9996 p.S3332fs 0.512:0.562 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 100 0 0.00 160 10 5.88 MVP 0 genome.wustl.edu 37 16 29845364 29845364 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 29845364 29845364 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.554 p.R185Q 1.000 pfam_Vault_N pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 28 0 0.00 16 6 27.27 MYBPH 0 genome.wustl.edu 37 1 203144850 203144850 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 203144850 203144850 A T SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.34 p.C12S 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 tier1 - - 100 0 0.00 74 4 5.13 MYH6 0 genome.wustl.edu 37 14 23871799 23871799 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 23871799 23871799 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.1015 p.V339M 0.970 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 45 0 0.00 14 14 50.00 MYPN 0 genome.wustl.edu 37 10 69934313 69934313 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 69934313 69934313 C T SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.2464 p.R822W 0.999 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 35 0 0.00 24 6 20.00 NAV2 0 genome.wustl.edu 37 11 20067059 20067059 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 20067059 20067059 A G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.3814 p.T1272A 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 33 0 0.00 23 8 25.81 NEK2 0 genome.wustl.edu 37 1 211846999 211846999 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 211846999 211846999 G A SNP NEK2 ENST00000540251 human ensembl 74_37 -1 known silent c.252 p.C84 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors NEK2 HGNC ENSG00000117650 52 0 0.00 45 4 8.00 NEO1 0 genome.wustl.edu 37 15 73590734 73590734 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 73590734 73590734 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3947 p.S1316L 1.000 pfam_Neogenin_C pfam_Neogenin_C,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 NEO1 HGNC ENSG00000067141 69 0 0.00 30 2 6.25 NEU2 0 genome.wustl.edu 37 2 233897431 233897431 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 233897431 233897431 C T SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.50 p.A17V 0.007 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 tier1 - - 29 0 0.00 13 4 23.53 NFE2L2 0 genome.wustl.edu 37 2 178098804 178098804 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 178098804 178098804 C T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.241 p.G81S 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 90 0 0.00 61 24 28.24 NOTCH4 0 genome.wustl.edu 37 6 32183074 32183074 + Silent SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 32183074 32183074 G C SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.1950 p.L650 0.998 pirsf_Notch,smart_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 76 0 0.00 25 12 32.43 OR4C15 0 genome.wustl.edu 37 11 55322411 55322411 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 55322411 55322411 T A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.629 p.M210K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 35 0 0.00 18 2 10.00 OR52A4 0 genome.wustl.edu 37 11 5142488 5142488 + RNA SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 5142488 5142488 G A SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors OR52A4 HGNC ENSG00000205494 tier1 - - 40 0 0.00 23 10 30.30 OR5R1 0 genome.wustl.edu 37 11 56185550 56185550 + Silent SNP A A C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 56185550 56185550 A C SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known silent c.159 p.T53 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 tier1 - - 47 0 0.00 31 4 11.43 OR6K6 0 genome.wustl.edu 37 1 158725227 158725227 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 158725227 158725227 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.622 p.D208N 1.000 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 OR6K6 HGNC ENSG00000180433 tier1 - - 26 0 0.00 16 5 23.81 OR8H1 0 genome.wustl.edu 37 11 56058080 56058080 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 56058080 56058080 G A SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.459 p.I153 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 tier1 - - 47 0 0.00 32 15 31.91 OSTF1 0 genome.wustl.edu 37 9 77742518 77742518 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 77742518 77742518 A G SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known missense c.115 p.I39V 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 tier1 - - 109 0 0.00 98 8 7.55 OTUD7A 0 genome.wustl.edu 37 15 31796012 31796012 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 31796012 31796012 G T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.903 p.N301K 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 36 0 0.00 34 2 5.56 PAPD7 0 genome.wustl.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 6755013 6755014 AC - DEL PAPD7 ENST00000230859 human ensembl 74_37 +1 known frame_shift_del c.1584_1585 p.T532fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 50 0 0.00 30 3 9.09 PAPL 0 genome.wustl.edu 37 19 39591447 39591447 + Missense_Mutation SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 39591447 39591447 G C SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.761 p.R254P 0.996 pfam_PEstase_dom pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 36 0 0.00 24 2 7.69 PAPPA2 0 genome.wustl.edu 37 1 176659289 176659289 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 176659289 176659289 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2154 p.S718R 1.000 pfam_Peptidase_M43 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 39 0 0.00 36 6 14.29 PARM1 0 genome.wustl.edu 37 4 75938361 75938361 + Splice_Site SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 75938361 75938361 G T SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known splice_site c.769+1 e2+1 1.000 - - - no_errors PARM1 HGNC ENSG00000169116 26 0 0.00 30 2 6.25 PAXBP1 0 genome.wustl.edu 37 21 34120808 34120808 + Splice_Site SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 21 34120808 34120808 A G SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known splice_site c.1923+2 e11+2 0.982 - - - no_errors PAXBP1 HGNC ENSG00000159086 tier1 - - 47 0 0.00 41 4 8.89 PCBP4 0 genome.wustl.edu 37 3 51992252 51992252 + Frame_Shift_Del DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 51992252 51992252 A - DEL PCBP4 ENST00000395014 human ensembl 74_37 -1 known frame_shift_del c.1100 p.L367fs 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 tier1 56 0 0.00 17 2 10.53 PCDH15 0 genome.wustl.edu 37 10 55581113 55581113 + RNA SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 55581113 55581113 G A SNP PCDH15 ENST00000463095 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 25 0 0.00 18 7 28.00 PCF11 0 genome.wustl.edu 37 11 82880460 82880460 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 82880460 82880460 G T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.3083 p.G1028V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 78 0 0.00 64 4 5.88 PCNT 0 genome.wustl.edu 37 21 47766842 47766842 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 21 47766842 47766842 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.906 p.E302D 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 21 0 0.00 17 2 10.53 PDE6A 0 genome.wustl.edu 37 5 149324057 149324057 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 149324057 149324057 G T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.180 p.I60 0.979 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 26 0 0.00 12 3 20.00 PFAS 0 genome.wustl.edu 37 17 8161134 8161134 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 8161134 8161134 T A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.1085 p.L362Q 0.990 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 76 0 0.00 38 3 7.32 PHACTR4 0 genome.wustl.edu 37 1 28696279 28696279 + RNA DEL G G - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 28696279 28696279 G - DEL PHACTR4 ENST00000463428 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors PHACTR4 HGNC ENSG00000204138 tier1 82 0 0.00 57 21 26.92 PHLPP2 0 genome.wustl.edu 37 16 71736521 71736521 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 71736521 71736521 C T SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.398 p.C133Y 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 99 0 0.00 57 4 6.56 PIK3C3 0 genome.wustl.edu 37 18 39647366 39647366 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 39647366 39647366 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known silent c.2538 p.F846 0.999 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 107 0 0.00 38 2 5.00 PIK3R1 0 genome.wustl.edu 37 5 67588172 67588172 + Nonsense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 67588172 67588172 C A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known nonsense c.1002 p.Y334* 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 99 0 0.00 38 2 5.00 PIKFYVE 0 genome.wustl.edu 37 2 209207315 209207315 + Nonsense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 209207315 209207315 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known nonsense c.4969 p.R1657* 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 89 0 0.00 35 2 5.41 PIR 0 genome.wustl.edu 37 X 15402994 15402994 + RNA SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 15402994 15402994 T C SNP PIR ENST00000492432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIR HGNC ENSG00000087842 tier1 - - 12 0 0.00 1 5 83.33 PLD1 0 genome.wustl.edu 37 3 171379880 171379880 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 171379880 171379880 T C SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2310 p.I770M 0.999 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 63 0 0.00 36 4 10.00 PLXNB2 0 genome.wustl.edu 37 22 50718132 50718132 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 50718132 50718132 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4316 p.A1439V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 97 0 0.00 55 3 5.00 PMFBP1 0 genome.wustl.edu 37 16 72188212 72188212 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 72188212 72188212 C T SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.312 p.L104 0.978 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 88 0 0.00 39 4 9.30 POM121 0 genome.wustl.edu 37 7 72413094 72413094 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 72413094 72413094 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.2562 p.T854 0.028 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 - - 25 0 0.00 19 6 24.00 PPP1R18 0 genome.wustl.edu 37 6 30652836 30652836 + Silent SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 30652836 30652836 T C SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known silent c.960 p.E320 0.987 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 tier1 - - 25 0 0.00 5 4 44.44 PPP3R2 0 genome.wustl.edu 37 9 104356841 104356841 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 104356841 104356841 G T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known silent c.372 p.G124 0.001 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 tier1 - - 48 0 0.00 48 4 7.69 PRAMEF13 0 genome.wustl.edu 37 1 13448426 13448426 + Missense_Mutation SNP G G C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 13448426 13448426 G C SNP PRAMEF13 ENST00000376132 human ensembl 74_37 -1 known missense c.1049 p.S350C 0.009 NULL NULL - no_errors PRAMEF13 HGNC ENSG00000204495 tier1 - - 38 0 0.00 9 11 55.00 PROSER2 0 genome.wustl.edu 37 10 11911789 11911789 + Frame_Shift_Del DEL G G - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 11911789 11911789 G 0 DEL PROSER2 ENST00000277570 human ensembl 74_37 +1 known frame_shift_del c.692 p.R234fs 0.000 NULL NULL - no_errors PROSER2 HGNC ENSG00000148426 8 0 0.00 4 2 33.33 PSD2 0 genome.wustl.edu 37 5 139192910 139192910 + Nonsense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 139192910 139192910 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known nonsense c.388 p.E130* 0.986 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 107 0 0.00 16 18 52.94 PTGS1 0 genome.wustl.edu 37 9 125143816 125143816 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 125143816 125143816 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known silent c.663 p.K221 0.998 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 tier1 - - 79 0 0.00 69 8 10.39 PTPN4 0 genome.wustl.edu 37 2 120709667 120709667 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 120709667 120709667 G T SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.1775 p.R592I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 78 0 0.00 62 4 6.06 PVRL3 0 genome.wustl.edu 37 3 110841020 110841020 + Frame_Shift_Del DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 110841020 110841020 A - DEL PVRL3 ENST00000485303 human ensembl 74_37 +1 known frame_shift_del c.852 p.G286fs 1.000 pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 tier1 63 0 0.00 21 2 8.70 QRICH2 0 genome.wustl.edu 37 17 74287108 74287108 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 74287108 74287108 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.3202 p.L1068 0.009 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 73 0 0.00 44 3 6.25 RAD9B 0 genome.wustl.edu 37 12 110956488 110956488 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 110956488 110956488 C T SNP RAD9B ENST00000392672 human ensembl 74_37 +1 known silent c.603 p.S201 0.004 pfam_Rad9/Ddc1,pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC ENSG00000151164 82 0 0.00 63 4 5.97 RAP1GAP2 0 genome.wustl.edu 37 17 2929399 2929399 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 2929399 2929399 T A SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1849 p.C617S 1.000 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 60 0 0.00 53 4 7.02 RAP1GAP2 0 genome.wustl.edu 37 17 2929685 2929685 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 2929685 2929685 G T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1907 p.R636L 1.000 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 61 0 0.00 55 4 6.78 RFK 0 genome.wustl.edu 37 9 79003557 79003557 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 79003557 79003557 G A SNP RFK ENST00000376736 human ensembl 74_37 -1 known missense c.250 p.H84Y 1.000 pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk - no_errors RFK HGNC ENSG00000135002 tier1 - - 42 0 0.00 52 4 7.14 RFX3 0 genome.wustl.edu 37 9 3248085 3248085 + Nonsense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 3248085 3248085 C A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known nonsense c.1915 p.E639* 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 27 0 0.00 19 4 17.39 RNF213 0 genome.wustl.edu 37 17 78247183 78247183 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 78247183 78247183 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.241 p.A81S 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 46 0 0.00 32 4 11.11 RNPEP 0 genome.wustl.edu 37 1 201966644 201966644 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 201966644 201966644 C T SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1052 p.T351I 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 tier1 - - 66 0 0.00 38 4 9.52 ROBO4 0 genome.wustl.edu 37 11 124761263 124761263 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 124761263 124761263 C T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.1880 p.R627H 0.004 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 54 0 0.00 45 3 6.25 RP1 0 genome.wustl.edu 37 8 55537775 55537775 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 55537775 55537775 C A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.1333 p.R445S 0.034 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 49 0 0.00 30 2 6.25 RPLP0 0 genome.wustl.edu 37 12 120638796 120638796 + RNA SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 120638796 120638796 G A SNP RPLP0 ENST00000551336 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RPLP0 HGNC ENSG00000089157 tier1 - - 107 0 0.00 57 22 27.50 RTKN2 0 genome.wustl.edu 37 10 63964713 63964713 + Silent SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 63964713 63964713 A G SNP RTKN2 ENST00000373789 human ensembl 74_37 -1 known silent c.1089 p.P363 0.285 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 tier1 - - 66 0 0.00 37 4 9.76 RTN2 0 genome.wustl.edu 37 19 45997462 45997462 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 45997462 45997462 G A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.776 p.T259M 0.938 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 tier1 - - 75 0 0.00 28 11 28.21 SCG2 0 genome.wustl.edu 37 2 224463668 224463668 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 224463668 224463668 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.333 p.M111I 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 44 0 0.00 17 3 15.00 SCG2 0 genome.wustl.edu 37 2 224463671 224463671 + Nonsense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 224463671 224463671 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known nonsense c.330 p.W110* 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 46 0 0.00 17 3 15.00 SCML4 0 genome.wustl.edu 37 6 108029193 108029193 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 108029193 108029193 C T SNP SCML4 ENST00000369025 human ensembl 74_37 -1 putative silent c.270 p.A90 0.001 superfamily_SAM/pointed pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM - no_errors SCML4 HGNC ENSG00000146285 44 0 0.00 30 2 6.25 SEC24C 0 genome.wustl.edu 37 10 75526909 75526909 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 10 75526909 75526909 T A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.1991 p.I664N 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 tier1 - - 43 0 0.00 23 4 14.81 SEL1L3 0 genome.wustl.edu 37 4 25789889 25789889 + Frame_Shift_Del DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 25789889 25789889 T - DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known frame_shift_del c.2174 p.E725fs 1.000 smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 56 0 0.00 17 2 10.53 SEMA3D 0 genome.wustl.edu 37 7 84647607 84647607 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 84647607 84647607 G T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1506 p.H502Q 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 64 0 0.00 22 6 21.43 SFI1 0 genome.wustl.edu 37 22 32009191 32009191 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 32009191 32009191 C A SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2554 p.L852M 0.306 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 - - 65 0 0.00 55 4 6.78 SFXN5 0 genome.wustl.edu 37 2 73268006 73268006 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 73268006 73268006 G A SNP SFXN5 ENST00000272433 human ensembl 74_37 -1 known missense c.226 p.R76C 0.998 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 44 0 0.00 30 3 9.09 SH3BP1 0 genome.wustl.edu 37 22 38039752 38039754 + In_Frame_Del DEL AGG AGG - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 38039752 38039754 AGG - DEL SH3BP1 ENST00000357436 human ensembl 74_37 +1 known in_frame_del c.575_577 p.E196in_frame_del 1.000:1.000:1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 62 0 0.00 39 4 9.30 SHC4 0 genome.wustl.edu 37 15 49254947 49254947 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 49254947 49254947 C T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.266 p.R89H 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 89 0 0.00 62 4 6.06 SLC6A19 0 genome.wustl.edu 37 5 1216723 1216723 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 5 1216723 1216723 C T SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.938 p.T313I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 - - 54 0 0.00 50 4 7.41 SLITRK5 0 genome.wustl.edu 37 13 88329272 88329272 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 13 88329272 88329272 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1629 p.L543F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 50 0 0.00 25 2 7.41 SNORA67 0 genome.wustl.edu 37 17 7481397 7481397 + RNA SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 7481397 7481397 G A SNP SNORA67 ENST00000384423 human ensembl 74_37 +1 known rna NULL NULL 0.905 - - - no_errors SNORA67 HGNC ENSG00000264772 tier1 - - 75 0 0.00 42 4 8.70 SP4 0 genome.wustl.edu 37 7 21470395 21470395 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 21470395 21470395 G T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1612 p.V538F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 59 0 0.00 35 2 5.41 SPATA5 0 genome.wustl.edu 37 4 124235188 124235188 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 124235188 124235188 A T SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.2651 p.Y884F 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 36 0 0.00 37 3 7.50 SPEN 0 genome.wustl.edu 37 1 16256000 16256000 + Nonsense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 16256000 16256000 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known nonsense c.3265 p.G1089* 0.988 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 34 0 0.00 13 3 18.75 SPNS2 0 genome.wustl.edu 37 17 4435944 4435944 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 4435944 4435944 C T SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known silent c.900 p.T300 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 tier1 - - 25 0 0.00 16 9 36.00 SPTBN4 0 genome.wustl.edu 37 19 41060531 41060531 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 41060531 41060531 T A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.5063 p.L1688Q 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 - - 58 0 0.00 46 4 8.00 SRGAP1 0 genome.wustl.edu 37 12 64456706 64456706 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 64456706 64456706 C A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.811 p.L271I 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 47 0 0.00 38 2 5.00 STAB2 0 genome.wustl.edu 37 12 104063385 104063385 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 104063385 104063385 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.2239 p.P747T 1.000 smart_EGF-like_Ca-bd_dom,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 tier1 - - 47 0 0.00 35 11 23.91 STAT4 0 genome.wustl.edu 37 2 191941041 191941041 + Missense_Mutation SNP T T C TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 191941041 191941041 T C SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.284 p.H95R 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 35 0 0.00 36 3 7.69 STL 0 genome.wustl.edu 37 6 125232348 125232348 + RNA SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 125232348 125232348 G T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 - - 48 0 0.00 50 4 7.41 SYNE2 0 genome.wustl.edu 37 14 64492102 64492102 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 64492102 64492102 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.6215 p.G2072V 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 85 0 0.00 47 4 7.84 TAF1C 0 genome.wustl.edu 37 16 84217308 84217308 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 84217308 84217308 A G SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.215 p.L72P 0.027 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 - - 61 0 0.00 47 4 7.84 TBR1 0 genome.wustl.edu 37 2 162280507 162280507 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 162280507 162280507 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1818 p.P606 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 tier1 - - 17 0 0.00 12 7 36.84 TFAP2B 0 genome.wustl.edu 37 6 50789792 50789793 + RNA INS - - T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 6 50789792 50789793 - T INS TFAP2B ENST00000489228 human ensembl 74_37 +1 known rna NULL NULL 0.549:0.009 - - - no_errors TFAP2B HGNC ENSG00000008196 tier1 41 0 0.00 29 2 6.45 TFAP4 0 genome.wustl.edu 37 16 4312652 4312652 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 4312652 4312652 C T SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.140 p.R47Q 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 36 0 0.00 24 2 7.69 TLN1 0 genome.wustl.edu 37 9 35707164 35707164 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 9 35707164 35707164 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known silent c.4860 p.L1620 0.271 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 99 0 0.00 79 12 13.19 TLN2 0 genome.wustl.edu 37 15 63053890 63053890 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 63053890 63053890 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.4649 p.G1550E 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 61 0 0.00 41 4 8.89 TMEM105 0 genome.wustl.edu 37 17 79287626 79287626 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 79287626 79287626 C T SNP TMEM105 ENST00000332900 human ensembl 74_37 -1 known missense c.215 p.S72N 0.000 NULL NULL - no_errors TMEM105 HGNC ENSG00000185332 tier1 - - 107 0 0.00 61 4 6.15 TMEM134 0 genome.wustl.edu 37 11 67234982 67234984 + In_Frame_Del DEL TGT TGT - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 67234982 67234984 TGT - DEL TMEM134 ENST00000545682 human ensembl 74_37 -1 known in_frame_del c.319_317 p.N106in_frame_del 0.429:0.280:0.315 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM134 HGNC ENSG00000172663 tier1 72 0 0.00 38 12 24.00 TMEM138 0 genome.wustl.edu 37 11 61135401 61135401 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 61135401 61135401 C T SNP TMEM138 ENST00000278826 human ensembl 74_37 +1 known missense c.307 p.R103C 1.000 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 77 0 0.00 38 2 5.00 TMEM155 0 genome.wustl.edu 37 4 122682813 122682813 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 122682813 122682813 G A SNP TMEM155 ENST00000337677 human ensembl 74_37 -1 known missense c.92 p.A31V 0.062 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 57 0 0.00 36 2 5.26 TMEM168 0 genome.wustl.edu 37 7 112415367 112415367 + Missense_Mutation SNP T T A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 112415367 112415367 T A SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1135 p.N379Y 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 40 0 0.00 37 2 5.13 TOM1 0 genome.wustl.edu 37 22 35723300 35723300 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 35723300 35723300 G T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.685 p.G229W 0.990 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 47 0 0.00 38 2 5.00 TOP2B 0 genome.wustl.edu 37 3 25648797 25648799 + In_Frame_Del DEL TCA TCA - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 25648797 25648799 TCA - DEL TOP2B ENST00000264331 human ensembl 74_37 -1 known in_frame_del c.4163_4161 p.D1388in_frame_del 1.000:1.000:0.992 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 68 0 0.00 27 2 6.90 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 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 rs28934576 GMAF=0.0005 22 0 0.00 15 10 40.00 TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 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 - - 21 0 0.00 17 7 29.17 TP53BP2 0 genome.wustl.edu 37 1 223976780 223976780 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 223976780 223976780 G T SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.3093 p.D1031E 1.000 superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 tier1 - - 84 0 0.00 66 6 8.33 TPD52 0 genome.wustl.edu 37 8 80992548 80992548 + Splice_Site SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 80992548 80992548 A G SNP TPD52 ENST00000537855 human ensembl 74_37 -1 known splice_site c.139+2 e1+2 1.000 - - - no_errors TPD52 HGNC ENSG00000076554 70 0 0.00 49 3 5.77 TRIP10 0 genome.wustl.edu 37 19 6751251 6751251 + Frame_Shift_Del DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 6751251 6751251 T - DEL TRIP10 ENST00000596758 human ensembl 74_37 +1 known frame_shift_del c.1696 p.C566fs 0.419 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors TRIP10 HGNC ENSG00000125733 tier1 53 0 0.00 17 7 29.17 TRO 0 genome.wustl.edu 37 X 54950123 54950123 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 54950123 54950123 C T SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.1158 p.V386 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 49 0 0.00 26 4 13.33 TSNAX 0 genome.wustl.edu 37 1 231672957 231672957 + Splice_Site SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 231672957 231672957 A G SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known splice_site c.122-2 e3-2 1.000 - - - no_errors TSNAX HGNC ENSG00000116918 tier1 - - 90 0 0.00 64 4 5.88 TSPAN6 0 genome.wustl.edu 37 X 99888429 99888429 + Missense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 99888429 99888429 C A SNP TSPAN6 ENST00000373020 human ensembl 74_37 -1 known missense c.558 p.Q186H 0.204 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN6 HGNC ENSG00000000003 tier1 - - 95 0 0.00 28 22 44.00 TSPO 0 genome.wustl.edu 37 22 43558932 43558932 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 22 43558932 43558932 A G SNP TSPO ENST00000329563 human ensembl 74_37 +1 known missense c.445 p.T149A 0.000 pfam_TspO_MBR,pirsf_TspO_MBR pfam_TspO_MBR,pirsf_TspO_MBR - no_errors TSPO HGNC ENSG00000100300 tier1 - - 60 0 0.00 37 4 9.76 TSSC4 0 genome.wustl.edu 37 11 2423907 2423907 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 2423907 2423907 G A SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known missense c.44 p.G15D 0.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 tier1 - - 77 0 0.00 23 22 48.89 TTC24 0 genome.wustl.edu 37 1 156551465 156551465 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 156551465 156551465 G A SNP TTC24 ENST00000368236 human ensembl 74_37 +1 known silent c.309 p.L103 0.032 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 74 0 0.00 67 4 5.63 TTC25 0 genome.wustl.edu 37 17 40092767 40092767 + RNA DEL T T - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 40092767 40092767 T - DEL TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors TTC25 HGNC ENSG00000204815 tier1 43 0 0.00 15 2 11.76 TTTY5 0 genome.wustl.edu 37 Y 24443605 24443605 + RNA DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 Y 24443605 24443605 A - DEL TTTY5 ENST00000400581 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors TTTY5 HGNC ENSG00000215560 tier1 38 0 0.00 3 2 40.00 TUSC2 0 genome.wustl.edu 37 3 50357934 50357934 + RNA SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 3 50357934 50357934 G T SNP TUSC2 ENST00000462137 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors TUSC2 HGNC ENSG00000114383 tier1 - - 37 0 0.00 12 4 25.00 UACA 0 genome.wustl.edu 37 15 70976776 70976776 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 15 70976776 70976776 G T SNP UACA ENST00000322954 human ensembl 74_37 -1 known silent c.612 p.L204 0.986 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 tier1 - - 47 0 0.00 23 3 11.54 UFSP2 0 genome.wustl.edu 37 4 186336464 186336464 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 186336464 186336464 G T SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.529 p.L177I 1.000 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 tier1 - - 171 0 0.00 66 4 5.71 UGT2A3 0 genome.wustl.edu 37 4 69796326 69796326 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 4 69796326 69796326 G T SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known missense c.1242 p.N414K 0.279 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 77 0 0.00 59 4 6.35 UNC119 0 genome.wustl.edu 37 17 26875695 26875695 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 17 26875695 26875695 G T SNP UNC119 ENST00000335765 human ensembl 74_37 -1 known silent c.249 p.I83 0.885 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 tier1 - - 60 0 0.00 40 4 9.09 UNC80 0 genome.wustl.edu 37 2 210698843 210698843 + Frame_Shift_Del DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 2 210698843 210698843 A - DEL UNC80 ENST00000439458 human ensembl 74_37 +1 known frame_shift_del c.2893 p.K966fs 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 84 0 0.00 26 3 10.34 USP14 0 genome.wustl.edu 37 18 203115 203115 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 203115 203115 G T SNP USP14 ENST00000261601 human ensembl 74_37 +1 known silent c.960 p.L320 0.849 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 tier1 - - 60 0 0.00 43 4 8.51 VWF 0 genome.wustl.edu 37 12 6125355 6125355 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 12 6125355 6125355 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5355 p.M1785I 0.026 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 54 0 0.00 48 4 7.69 XIST 0 genome.wustl.edu 37 X 73070803 73070803 + RNA SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 73070803 73070803 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 23 0 0.00 5 16 76.19 YY1 0 genome.wustl.edu 37 14 100743822 100743822 + Missense_Mutation SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 100743822 100743822 A G SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.1130 p.H377R 1.000 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 35 0 0.00 19 9 32.14 ZBTB16 0 genome.wustl.edu 37 11 113934619 113934619 + Silent SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 11 113934619 113934619 C A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known silent c.597 p.T199 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 17 0 0.00 25 2 7.41 ZC2HC1C 0 genome.wustl.edu 37 14 75537781 75537781 + Nonsense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 14 75537781 75537781 G T SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known nonsense c.505 p.E169* 0.625 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 tier1 - - 53 0 0.00 37 4 9.76 ZFAND1 0 genome.wustl.edu 37 8 82629519 82629519 + Nonsense_Mutation SNP C C A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 8 82629519 82629519 C A SNP ZFAND1 ENST00000220669 human ensembl 74_37 -1 known nonsense c.103 p.E35* 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 42 0 0.00 18 2 10.00 ZFX 0 genome.wustl.edu 37 X 24197367 24197367 + Silent SNP A A G TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 24197367 24197367 A G SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.243 p.S81 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 44 0 0.00 26 3 10.34 ZNF267 0 genome.wustl.edu 37 16 31927437 31927437 + Missense_Mutation SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 31927437 31927437 C T SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.1867 p.R623W 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 67 0 0.00 33 2 5.71 ZNF407 0 genome.wustl.edu 37 18 72632586 72632586 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 18 72632586 72632586 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5366 p.R1789Q 0.008 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 72 0 0.00 28 2 6.67 ZNF436 0 genome.wustl.edu 37 1 23689412 23689412 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 1 23689412 23689412 G T SNP ZNF436 ENST00000314011 human ensembl 74_37 -1 known silent c.463 p.R155 0.001 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 ZNF436 HGNC ENSG00000125945 55 0 0.00 38 2 5.00 ZNF479 0 genome.wustl.edu 37 7 57188204 57188204 + Frame_Shift_Del DEL A A - TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 7 57188204 57188204 A - DEL ZNF479 ENST00000331162 human ensembl 74_37 -1 known frame_shift_del c.918 p.F306fs 0.022 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 ZNF479 HGNC ENSG00000185177 tier1 116 0 0.00 84 6 6.67 ZNF720 0 genome.wustl.edu 37 16 31765275 31765275 + Missense_Mutation SNP A A T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 16 31765275 31765275 A T SNP ZNF720 ENST00000398696 human ensembl 74_37 +1 known missense c.205 p.T69S 0.013 NULL NULL - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 40 0 0.00 50 4 7.41 ZNF99 0 genome.wustl.edu 37 19 22941058 22941058 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 19 22941058 22941058 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1380 p.T460 0.000 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 ZNF99 HGNC ENSG00000213973 tier1 - - 87 0 0.00 41 14 25.45 ZXDB 0 genome.wustl.edu 37 X 57619666 57619666 + Silent SNP C C T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d0906d6-e09d-4a51-b193-df76f464bf2b ac64b984-1741-431e-adc0-9141658224a6 X 57619666 57619666 C T SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known silent c.1185 p.C395 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 tier1 - - 55 0 0.00 36 4 10.00