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 AACS 0 genome.wustl.edu 37 12 125591780 125591780 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 125591780 125591780 C G SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.881 p.T294R 0.994 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 - - 44 0 0.00 18 17 48.57 ACAA2 0 genome.wustl.edu 37 18 47311700 47311700 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 47311700 47311700 G T SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.976 p.Q326K 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 tier1 - - 17 0 0.00 17 7 29.17 ADCK5 0 genome.wustl.edu 37 8 145616197 145616197 + Nonsense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 145616197 145616197 G T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known nonsense c.484 p.E162* 0.998 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 36 0 0.00 33 2 5.71 ADCY9 0 genome.wustl.edu 37 16 4027490 4027490 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 4027490 4027490 G T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2821 p.P941T 0.999 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 42 0 0.00 43 4 8.51 AHNAK2 0 genome.wustl.edu 37 14 105406708 105406708 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 105406708 105406708 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15080 p.A5027V 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 40 0 0.00 51 4 7.27 AKAP3 0 genome.wustl.edu 37 12 4737281 4737281 + Silent SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 4737281 4737281 G T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known silent c.787 p.R263 0.007 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 39 0 0.00 19 9 32.14 AKAP4 0 genome.wustl.edu 37 X 49958407 49958407 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 X 49958407 49958407 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.957 p.Q319 0.261 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 25 0 0.00 19 9 32.14 AMPH 0 genome.wustl.edu 37 7 38468255 38468255 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 38468255 38468255 G A SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 48 0 0.00 54 13 19.40 ANKRD31 0 genome.wustl.edu 37 5 74442625 74442625 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 74442625 74442625 G C SNP ANKRD31 ENST00000274361 human ensembl 74_37 -1 known missense c.2611 p.H871D 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 tier1 - - 59 0 0.00 78 23 22.77 ANKRD50 0 genome.wustl.edu 37 4 125591662 125591662 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 125591662 125591662 C A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.2770 p.G924W 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,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 35 0 0.00 38 2 5.00 ANO6 0 genome.wustl.edu 37 12 45741883 45741883 + Missense_Mutation SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 45741883 45741883 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.418 p.M140V 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 30 0 0.00 19 16 45.71 AOC2 0 genome.wustl.edu 37 17 40997280 40997280 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 40997280 40997280 C T SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.637 p.R213C 0.000 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 12 0 0.00 26 2 7.14 APOL5 0 genome.wustl.edu 37 22 36122366 36122366 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 22 36122366 36122366 G T SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.251 p.R84L 0.000 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 11 0 0.00 18 2 10.00 ASXL3 0 genome.wustl.edu 37 18 31319196 31319196 + Nonsense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 31319196 31319196 G T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known nonsense c.1828 p.E610* 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 14 0 0.00 13 9 40.91 ATCAY 0 genome.wustl.edu 37 19 3902495 3902495 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 3902495 3902495 G C SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known missense c.88 p.E30Q 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 29 0 0.00 29 4 12.12 ATF7IP2 0 genome.wustl.edu 37 16 10567798 10567798 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 10567798 10567798 G T SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.1501 p.D501Y 0.413 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 - - 64 0 0.00 59 4 6.35 ATG2B 0 genome.wustl.edu 37 14 96752109 96752109 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 96752109 96752109 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.6220 p.R2074C 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 15 0 0.00 13 13 50.00 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99021462 99021462 + Frame_Shift_Del DEL G G - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 99021462 99021462 G 0 DEL ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known frame_shift_del c.2003 p.P668fs 0.938 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 59 0 0.00 89 8 8.25 ATP9A 0 genome.wustl.edu 37 20 50244141 50244141 + Nonsense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 50244141 50244141 C A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known nonsense c.1843 p.E615* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 42 0 0.00 44 4 8.33 AXIN2 0 genome.wustl.edu 37 17 63533733 63533735 + In_Frame_Del DEL TGG TGG - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 63533733 63533735 TGG - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known in_frame_del c.1421_1419 p.H474in_frame_del 0.471:0.843:0.868 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 24 0 0.00 24 2 7.69 B3GNT6 0 genome.wustl.edu 37 11 76751188 76751188 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 76751188 76751188 C T SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.593 p.T198M 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 tier1 - - 42 0 0.00 38 4 9.52 BCL9L 0 genome.wustl.edu 37 11 118772974 118772974 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 118772974 118772974 G C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.1478 p.P493R 0.944 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 23 0 0.00 20 4 16.67 BDP1 0 genome.wustl.edu 37 5 70810788 70810788 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 70810788 70810788 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4488 p.M1496I 0.004 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 18 0 0.00 22 7 24.14 BMS1P8 0 genome.wustl.edu 37 16 33490487 33490487 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 33490487 33490487 C T SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 19 0 0.00 14 9 39.13 BOC 0 genome.wustl.edu 37 3 112998245 112998245 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 112998245 112998245 G T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.1966 p.A656S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 tier1 - - 30 0 0.00 28 4 12.50 BRI3 0 genome.wustl.edu 37 7 97921978 97921978 + Silent SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 97921978 97921978 G T SNP BRI3 ENST00000539286 human ensembl 74_37 +1 known silent c.273 p.T91 0.000 NULL pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 tier1 - - 30 0 0.00 52 4 7.14 C10orf82 0 genome.wustl.edu 37 10 118424288 118424288 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 118424288 118424288 G C SNP C10orf82 ENST00000588184 human ensembl 74_37 -1 known missense c.445 p.L149V 0.066 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 tier1 - - 38 0 0.00 45 11 19.64 C17orf112 0 genome.wustl.edu 37 17 51063835 51063835 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 51063835 51063835 C T SNP C17orf112 ENST00000441889 human ensembl 74_37 +1 putative silent c.79 p.L27 0.016 NULL NULL - no_errors C17orf112 HGNC ENSG00000227011 tier1 - - 32 0 0.00 29 18 38.30 C1orf65 0 genome.wustl.edu 37 1 223568089 223568089 + Silent SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 223568089 223568089 G C SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known silent c.1272 p.L424 0.001 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 tier1 - - 9 0 0.00 15 4 21.05 C4orf22 0 genome.wustl.edu 37 4 81504291 81504291 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 81504291 81504291 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.287 p.T96M 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 38 0 0.00 28 2 6.67 CACNA1C 0 genome.wustl.edu 37 12 2690840 2690840 + Silent SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 2690840 2690840 C G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1980 p.L660 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 71 0 0.00 46 28 37.84 CAMSAP1 0 genome.wustl.edu 37 9 138703425 138703425 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 138703425 138703425 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known silent c.4572 p.I1524 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 41 0 0.00 29 3 9.38 CAPN6 0 genome.wustl.edu 37 X 110489963 110489963 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 X 110489963 110489963 C T SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.1768 p.D590N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 9 0 0.00 8 3 27.27 CASP14 0 genome.wustl.edu 37 19 15164590 15164590 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 15164590 15164590 G T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.224 p.R75L 0.201 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 38 0 0.00 31 2 6.06 CATSPERD 0 genome.wustl.edu 37 19 5724873 5724873 + Silent SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 5724873 5724873 G C SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.126 p.G42 0.995 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 46 0 0.00 53 7 11.67 CCDC148 0 genome.wustl.edu 37 2 159107284 159107284 + Frame_Shift_Del DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 159107284 159107284 T - DEL CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_del c.1251 p.I418fs 0.032 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 tier1 26 0 0.00 23 2 8.00 CD247 0 genome.wustl.edu 37 1 167404209 167404210 + RNA INS - - T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 167404209 167404210 - T INS CD247 ENST00000483825 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CD247 HGNC ENSG00000198821 tier1 19 0 0.00 19 4 17.39 CDC73 0 genome.wustl.edu 37 1 193218912 193218912 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 193218912 193218912 G T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.1470 p.Q490H 1.000 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 56 0 0.00 66 4 5.71 CDH22 0 genome.wustl.edu 37 20 44815563 44815563 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 44815563 44815563 C A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.1447 p.A483S 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 38 0 0.00 30 2 6.25 CDH6 0 genome.wustl.edu 37 5 31323263 31323263 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 31323263 31323263 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.2221 p.E741K 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 33 0 0.00 22 9 29.03 CEACAM8 0 genome.wustl.edu 37 19 43087409 43087409 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 43087409 43087409 C T SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.1039 p.A347T 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 tier1 - - 38 0 0.00 35 4 10.26 CHD7 0 genome.wustl.edu 37 8 61777889 61777889 + Silent SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 61777889 61777889 C G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8391 p.P2797 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 18 0 0.00 11 6 35.29 CHPF2 0 genome.wustl.edu 37 7 150935679 150935679 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 150935679 150935679 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.2231 p.R744H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 24 0 0.00 22 3 12.00 CHRNB3 0 genome.wustl.edu 37 8 42587155 42587155 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 42587155 42587155 C A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.705 p.F235L 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 tier1 - - 60 0 0.00 280 24 7.82 CHST13 0 genome.wustl.edu 37 3 126261328 126261328 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 126261328 126261328 C T SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.933 p.I311 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 tier1 - - 23 0 0.00 41 6 12.77 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 60 0 0.00 30 2 6.25 CLK1 0 genome.wustl.edu 37 2 201719347 201719347 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 201719347 201719347 C G SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known missense c.1212 p.Q404H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK1 HGNC ENSG00000013441 tier1 - - 47 0 0.00 52 4 7.14 CLTCL1 0 genome.wustl.edu 37 22 19222152 19222152 + Silent SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 22 19222152 19222152 C A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.1047 p.L349 1.000 pfam_Clathrin_H-chain_linker_core,superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 30 0 0.00 47 4 7.84 COBL 0 genome.wustl.edu 37 7 51096641 51096641 + Nonsense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 51096641 51096641 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known nonsense c.2398 p.R800* 0.735 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 18 0 0.00 48 3 5.88 COL11A1 0 genome.wustl.edu 37 1 103440440 103440440 + Splice_Site SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 103440440 103440440 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known splice_site c.2791-1 e36-1 1.000 - - - no_errors COL11A1 HGNC ENSG00000060718 26 0 0.00 26 2 7.14 COL9A1 0 genome.wustl.edu 37 6 70978510 70978510 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 70978510 70978510 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.1284 p.M428I 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 13 0 0.00 27 4 12.90 COPE 0 genome.wustl.edu 37 19 19030112 19030112 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 19030112 19030112 C T SNP COPE ENST00000262812 human ensembl 74_37 -1 known missense c.46 p.V16I 0.981 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 57 0 0.00 66 5 7.04 CRISP1 0 genome.wustl.edu 37 6 49825077 49825077 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 49825077 49825077 C T SNP CRISP1 ENST00000335847 human ensembl 74_37 -1 known missense c.37 p.A13T 0.002 superfamily_CAP_domain pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 tier1 - - 27 0 0.00 31 6 16.22 CSHL1 0 genome.wustl.edu 37 17 61987321 61987321 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 61987321 61987321 C T SNP CSHL1 ENST00000561003 human ensembl 74_37 -1 novel silent c.423 p.G141 0.005 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core - no_errors CSHL1 HGNC ENSG00000204414 tier1 - - 104 0 0.00 110 14 11.29 CXADRP3 0 genome.wustl.edu 37 18 14478264 14478264 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 14478264 14478264 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.687 - - - no_errors CXADRP3 HGNC ENSG00000265766 42 0 0.00 62 4 6.06 CYP4Z1 0 genome.wustl.edu 37 1 47534433 47534433 + Missense_Mutation SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 47534433 47534433 A G SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.317 p.Q106R 0.447 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 - - 119 0 0.00 90 5 5.26 CYP4Z2P 0 genome.wustl.edu 37 1 47325354 47325354 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 47325354 47325354 G A SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors CYP4Z2P HGNC ENSG00000154198 38 0 0.00 40 3 6.98 DACT2 0 genome.wustl.edu 37 6 168709234 168709234 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 168709234 168709234 G A SNP DACT2 ENST00000366795 human ensembl 74_37 -1 known silent c.1203 p.G401 0.000 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 44 0 0.00 21 4 16.00 DDX58 0 genome.wustl.edu 37 9 32459470 32459470 + Nonsense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 32459470 32459470 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known nonsense c.2380 p.Q794* 0.141 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 96 0 0.00 59 194 76.38 DMKN 0 genome.wustl.edu 37 19 35994206 35994206 + RNA DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 35994206 35994206 T - DEL DMKN ENST00000474992 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DMKN HGNC ENSG00000161249 tier1 97 0 0.00 84 33 28.21 DNAH3 0 genome.wustl.edu 37 16 21139069 21139069 + Nonsense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 21139069 21139069 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.1147 p.Q383* 0.030 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 56 0 0.00 39 9 18.37 DNAH9 0 genome.wustl.edu 37 17 11622754 11622754 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 11622754 11622754 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5656 p.A1886T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 45 0 0.00 26 2 7.14 DNAJB8 0 genome.wustl.edu 37 3 128181534 128181534 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 128181534 128181534 G A SNP DNAJB8 ENST00000319153 human ensembl 74_37 -1 known silent c.555 p.S185 0.997 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB8 HGNC ENSG00000179407 tier1 - - 38 0 0.00 61 10 14.08 DNAJC15 0 genome.wustl.edu 37 13 43659934 43659934 + Silent SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 13 43659934 43659934 A G SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known silent c.342 p.T114 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 tier1 - - 24 0 0.00 18 4 18.18 DPY19L2P2 0 genome.wustl.edu 37 7 102920598 102920598 + RNA SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 102920598 102920598 A G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.504 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 tier1 - - 43 0 0.00 29 9 23.68 DSC3 0 genome.wustl.edu 37 18 28604445 28604445 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 28604445 28604445 C T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.645 p.A215 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,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 DSC3 HGNC ENSG00000134762 22 0 0.00 26 2 7.14 EFCAB6 0 genome.wustl.edu 37 22 44178174 44178174 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 22 44178174 44178174 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.25 p.D9N 0.001 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 57 0 0.00 49 16 24.62 EHBP1 0 genome.wustl.edu 37 2 63220713 63220713 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 63220713 63220713 C T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.2995 p.R999C 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 11 0 0.00 14 2 12.50 ELAVL2 0 genome.wustl.edu 37 9 23731092 23731092 + Nonsense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 23731092 23731092 G T SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known nonsense c.261 p.Y87* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 66 0 0.00 31 4 11.43 ENSG00000215993 0 genome.wustl.edu 37 12 43685366 43685366 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 43685366 43685366 C T SNP ENSG00000215993 ENST00000401174 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC079603.1 Clone_based_ensembl_gene ENSG00000215993 tier1 - - 81 0 0.00 44 33 42.86 ENSG00000222031 0 genome.wustl.edu 37 2 151857851 151857851 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 151857851 151857851 G A SNP ENSG00000222031 ENST00000409243 human ensembl 74_37 -1 putative silent c.267 p.P89 0.001 NULL NULL - no_errors AC023469.1 Clone_based_vega_gene ENSG00000222031 tier1 - - 92 0 0.00 70 15 17.65 ENSG00000231817 0 genome.wustl.edu 37 13 47040077 47040077 + RNA SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 13 47040077 47040077 A G SNP ENSG00000231817 ENST00000594153 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 rs7319803 - 13 0 0.00 8 15 65.22 ENSG00000231817 0 genome.wustl.edu 37 13 47040087 47040087 + RNA SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 13 47040087 47040087 C A SNP ENSG00000231817 ENST00000594153 human ensembl 74_37 -1 known rna NULL NULL 0.060 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 rs74755458 - 13 0 0.00 7 14 66.67 ENSG00000245156 0 genome.wustl.edu 37 11 66039507 66039507 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 66039507 66039507 G A SNP ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 tier1 - - 9 0 0.00 10 4 28.57 ENSG00000261238 0 genome.wustl.edu 37 16 51183171 51183171 + RNA DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 51183171 51183171 T - DEL ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 9 0 0.00 9 4 30.77 ENSG00000266527 0 genome.wustl.edu 37 17 26206315 26206315 + RNA SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 26206315 26206315 A G SNP ENSG00000266527 ENST00000581901 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-138P22.1 Clone_based_vega_gene ENSG00000266527 tier1 - - 10 0 0.00 8 4 33.33 ENSG00000270726 0 genome.wustl.edu 37 X 155252801 155252801 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 X 155252801 155252801 G A SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 107 0 0.00 60 4 6.25 ERP44 0 genome.wustl.edu 37 9 102744932 102744932 + Frame_Shift_Del DEL A A - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 102744932 102744932 A - DEL ERP44 ENST00000262455 human ensembl 74_37 -1 known frame_shift_del c.1183 p.Y395fs 1.000 NULL pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold - no_errors ERP44 HGNC ENSG00000023318 tier1 26 0 0.00 20 14 41.18 ESRRG 0 genome.wustl.edu 37 1 216896593 216896593 + Nonsense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 216896593 216896593 C A SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known nonsense c.49 p.E17* 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 tier1 - - 34 0 0.00 25 13 34.21 FAM135A 0 genome.wustl.edu 37 6 71245981 71245981 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 71245981 71245981 G T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3984 p.L1328F 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 47 0 0.00 72 4 5.26 FBXW4 0 genome.wustl.edu 37 10 103386257 103386257 + RNA DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 103386257 103386257 T - DEL FBXW4 ENST00000470093 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors FBXW4 HGNC ENSG00000107829 tier1 24 0 0.00 12 2 14.29 FMO3 0 genome.wustl.edu 37 1 171086308 171086308 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 171086308 171086308 G T SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1325 p.G442V 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 24 0 0.00 36 2 5.26 FSCN3 0 genome.wustl.edu 37 7 127238588 127238589 + Frame_Shift_Ins INS - - G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 127238588 127238589 - G INS FSCN3 ENST00000265825 human ensembl 74_37 +1 known frame_shift_ins c.1060_1061 p.R356fs 0.039:0.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 tier1 23 0 0.00 28 2 6.67 FSIP2 0 genome.wustl.edu 37 2 186671724 186671724 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 186671724 186671724 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.17958 p.M5986I 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 21 0 0.00 31 6 16.22 GBP1P1 0 genome.wustl.edu 37 1 89885842 89885842 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 89885842 89885842 C T SNP GBP1P1 ENST00000513638 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GBP1P1 HGNC ENSG00000225492 tier1 - - 53 0 0.00 30 9 23.08 GCC2 0 genome.wustl.edu 37 2 109092295 109092295 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 109092295 109092295 G A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.3049 p.E1017K 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 31 0 0.00 31 5 13.89 GLI3 0 genome.wustl.edu 37 7 42018223 42018223 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 42018223 42018223 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1622 p.T541M 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 47 0 0.00 44 4 8.33 GLOD4 0 genome.wustl.edu 37 17 679087 679087 + Nonsense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 679087 679087 C A SNP GLOD4 ENST00000301328 human ensembl 74_37 -1 known nonsense c.379 p.E127* 0.997 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 48 0 0.00 54 3 5.26 GOLGA8I 0 genome.wustl.edu 37 15 23257105 23257105 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 23257105 23257105 G A SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known silent c.96 p.A32 0.127 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 tier1 rs200507088 - 39 0 0.00 7 3 30.00 GREB1 0 genome.wustl.edu 37 2 11742612 11742612 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 11742612 11742612 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.2610 p.L870 0.890 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 86 0 0.00 94 20 17.39 GRIA4 0 genome.wustl.edu 37 11 105804513 105804513 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 105804513 105804513 C G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.2112 p.F704L 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 38 0 0.00 22 4 15.38 GRIP1 0 genome.wustl.edu 37 12 66932939 66932939 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 66932939 66932939 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.337 p.R113C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 53 0 0.00 96 7 6.80 HAUS6 0 genome.wustl.edu 37 9 19096745 19096745 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 19096745 19096745 G T SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.151 p.R51S 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 70 0 0.00 37 2 5.13 HBB 0 genome.wustl.edu 37 11 5248189 5248189 + Silent SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 5248189 5248189 C A SNP HBB ENST00000335295 human ensembl 74_37 -1 known silent c.63 p.V21 0.004 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBB HGNC ENSG00000244734 tier1 - - 46 0 0.00 38 11 22.45 HDGF 0 genome.wustl.edu 37 1 156714052 156714052 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 156714052 156714052 C T SNP HDGF ENST00000368206 human ensembl 74_37 -1 known missense c.440 p.G147D 1.000 NULL pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 tier1 - - 48 0 0.00 44 4 8.33 HELLS 0 genome.wustl.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 96331163 96331163 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.454 p.N154fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 tier1 55 0 0.00 36 3 7.69 HEMGN 0 genome.wustl.edu 37 9 100693387 100693387 + Missense_Mutation SNP A A T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 100693387 100693387 A T SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known missense c.290 p.V97E 0.000 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 36 0 0.00 42 4 5.63 HIST1H3G 0 genome.wustl.edu 37 6 26271561 26271561 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 26271561 26271561 G A SNP HIST1H3G ENST00000305910 human ensembl 74_37 -1 known missense c.52 p.R18C 0.998 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 tier1 - - 59 0 0.00 46 15 24.59 HK2 0 genome.wustl.edu 37 2 75115128 75115128 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 75115128 75115128 C T SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2318 p.S773L 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 tier1 - - 34 0 0.00 19 15 44.12 HMGN1 0 genome.wustl.edu 37 21 40720242 40720242 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 21 40720242 40720242 C T SNP HMGN1 ENST00000380749 human ensembl 74_37 -1 known silent c.102 p.A34 0.759 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN1 HGNC ENSG00000205581 tier1 - - 31 0 0.00 9 13 59.09 HSP90AA1 0 genome.wustl.edu 37 14 102552699 102552699 + Nonsense_Mutation SNP T T A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 102552699 102552699 T A SNP HSP90AA1 ENST00000557234 human ensembl 74_37 -1 known nonsense c.172 p.R58* 1.000 NULL NULL - no_errors HSP90AA1 HGNC ENSG00000080824 tier1 - - 22 0 0.00 19 13 40.62 HTT 0 genome.wustl.edu 37 4 3134324 3134324 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 3134324 3134324 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.2272 p.D758N 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 37 0 0.00 19 5 20.83 IFT122 0 genome.wustl.edu 37 3 129195640 129195641 + Frame_Shift_Ins INS - - A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 129195640 129195641 - A INS IFT122 ENST00000296266 human ensembl 74_37 +1 known frame_shift_ins c.1296_1297 p.V433fs 1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 tier1 21 0 0.00 24 2 7.69 IGSF8 0 genome.wustl.edu 37 1 160062078 160062078 + Missense_Mutation SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 160062078 160062078 T C SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.1720 p.M574V 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 tier1 - - 26 0 0.00 19 14 42.42 INF2 0 genome.wustl.edu 37 14 105185166 105185166 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 105185166 105185166 C T SNP INF2 ENST00000481338 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors INF2 HGNC ENSG00000203485 tier1 - - 75 0 0.00 90 5 5.26 INHBA 0 genome.wustl.edu 37 7 41730069 41730069 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 41730069 41730069 C T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.460 p.E154K 0.955 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 20 0 0.00 14 9 39.13 ITGA8 0 genome.wustl.edu 37 10 15655758 15655758 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 15655758 15655758 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1454 p.P485Q 0.995 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 27 0 0.00 38 2 5.00 JAM3 0 genome.wustl.edu 37 11 134014150 134014150 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 134014150 134014150 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.406 p.R136C 0.995 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 tier1 - - 46 0 0.00 27 12 30.77 KIAA0430 0 genome.wustl.edu 37 16 15719495 15719495 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 15719495 15719495 G T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.1687 p.R563S 1.000 pfam_Limkain_b1_cons_dom,smart_RRM_dom pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 57 0 0.00 71 4 5.26 KIAA1407 0 genome.wustl.edu 37 3 113697807 113697807 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 113697807 113697807 C T SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known silent c.2358 p.T786 0.508 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 66 0 0.00 40 3 6.98 KIAA1468 0 genome.wustl.edu 37 18 59947599 59947599 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 59947599 59947599 C A SNP KIAA1468 ENST00000398130 human ensembl 74_37 +1 known missense c.2974 p.L992I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 - - 55 0 0.00 59 4 6.35 KIF11 0 genome.wustl.edu 37 10 94373192 94373192 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 94373192 94373192 G T SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known missense c.848 p.R283L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 tier1 - - 68 0 0.00 72 5 6.49 KIR2DL1 0 genome.wustl.edu 37 19 55286739 55286739 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 55286739 55286739 G A SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.493 p.E165K 0.002 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 tier1 - - 106 0 0.00 128 31 19.50 KLHDC4 0 genome.wustl.edu 37 16 87790005 87790005 + Frame_Shift_Del DEL T T - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 87790005 87790005 T - DEL KLHDC4 ENST00000270583 human ensembl 74_37 -1 known frame_shift_del c.270 p.T91fs 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 tier1 18 0 0.00 25 2 7.41 LEPR 0 genome.wustl.edu 37 1 66067198 66067198 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 66067198 66067198 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.1118 p.A373V 1.000 pfam_IgC2-like_lig-bd,pfscan_Ig-like_dom pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 55 0 0.00 14 28 66.67 LEPRE1 0 genome.wustl.edu 37 1 43218270 43218270 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 43218270 43218270 G A SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.1411 p.R471W 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 tier1 rs147230023 - 27 0 0.00 23 3 11.54 LNPEP 0 genome.wustl.edu 37 5 96341827 96341827 + Silent SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 96341827 96341827 G T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.1836 p.L612 0.998 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 51 0 0.00 43 4 8.51 LOC100134259 0 genome.wustl.edu 37 2 47083029 47083032 + RNA DEL TATG TATG - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 TATG TATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 47083029 47083032 TATG - DEL LOC100134259 ENST00000495449 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.001:0.001:0.000 - - - no_errors AC016722.2 Clone_based_vega_gene ENSG00000239332 tier1 11 0 0.00 16 9 36.00 LOC101927746 0 genome.wustl.edu 37 7 100953991 100953991 + RNA SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 100953991 100953991 C A SNP LOC101927746 ENST00000419422 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors RP11-132A1.4 Clone_based_vega_gene ENSG00000232445 tier1 - - 44 0 0.00 39 4 9.30 LOC388906 0 genome.wustl.edu 37 22 42670129 42670129 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 22 42670129 42670129 C T SNP LOC388906 ENST00000332965 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors Z83851.3 Clone_based_vega_gene ENSG00000182057 tier1 - - 24 0 0.00 33 6 15.00 LRP10 0 genome.wustl.edu 37 14 23345472 23345472 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 23345472 23345472 C A SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1315 p.R439S 1.000 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 tier1 - - 11 0 0.00 19 4 17.39 LRP2 0 genome.wustl.edu 37 2 170096091 170096091 + Missense_Mutation SNP A A T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 170096091 170096091 A T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4240 p.S1414T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 40 0 0.00 19 40 67.80 LRRC14B 0 genome.wustl.edu 37 5 191776 191776 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 191776 191776 C T SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel silent c.123 p.S41 1.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 tier1 - - 40 0 0.00 56 4 6.67 LRRC37A3 0 genome.wustl.edu 37 17 62893154 62893154 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 62893154 62893154 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.222 p.A74 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 48 0 0.00 77 6 7.23 LUC7L 0 genome.wustl.edu 37 16 240027 240027 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 240027 240027 C T SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.914 p.R305H 1.000 NULL pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 62 0 0.00 53 4 7.02 LZTS2 0 genome.wustl.edu 37 10 102763412 102763412 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 102763412 102763412 C A SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.557 p.P186H 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 33 0 0.00 33 2 5.71 MAP3K8 0 genome.wustl.edu 37 10 30749675 30749675 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 30749675 30749675 C T SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.1314 p.L438 0.153 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 11 0 0.00 17 3 15.00 MAPK8 0 genome.wustl.edu 37 10 49628338 49628338 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 49628338 49628338 C T SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known silent c.591 p.I197 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 31 0 0.00 35 3 7.89 MATR3 0 genome.wustl.edu 37 5 138661312 138661312 + Nonsense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 138661312 138661312 G T SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known nonsense c.2332 p.E778* 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 tier1 - - 23 0 0.00 14 3 17.65 MDN1 0 genome.wustl.edu 37 6 90398430 90398430 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 90398430 90398430 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.11121 p.V3707 0.326 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 21 0 0.00 11 7 38.89 MDN1 0 genome.wustl.edu 37 6 90453354 90453354 + Missense_Mutation SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 90453354 90453354 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4258 p.M1420V 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 50 0 0.00 28 2 6.67 MED14 0 genome.wustl.edu 37 X 40513746 40513746 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 X 40513746 40513746 G A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known silent c.4161 p.I1387 0.999 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 18 0 0.00 23 8 25.81 MED25 0 genome.wustl.edu 37 19 50334095 50334095 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 50334095 50334095 C A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.1052 p.A351D 0.994 pfam_Mediator_Med25_SD1 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 12 0 0.00 15 4 21.05 MEPE 0 genome.wustl.edu 37 4 88767807 88767807 + RNA DEL A A - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 88767807 88767807 A - DEL MEPE ENST00000508016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC ENSG00000152595 tier1 28 0 0.00 20 2 9.09 MFAP1 0 genome.wustl.edu 37 15 44105232 44105233 + Frame_Shift_Ins INS - - TTCC TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 44105232 44105233 - TTCC INS MFAP1 ENST00000267812 human ensembl 74_37 -1 known frame_shift_ins c.840_839 p.V281fs 1.000:1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 tier1 64 0 0.00 44 21 32.31 MGAM 0 genome.wustl.edu 37 7 141778736 141778736 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 7 141778736 141778736 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.5775 p.A1925 0.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 88 0 0.00 54 34 38.64 MLLT4 0 genome.wustl.edu 37 6 168363200 168363200 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 168363200 168363200 C A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4900 p.R1634S 0.999 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 41 0 0.00 36 3 7.69 MMP26 0 genome.wustl.edu 37 11 5009484 5009484 + Missense_Mutation SNP T T G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 5009484 5009484 T G SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.43 p.C15G 0.198 NULL pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 tier1 - - 52 0 0.00 32 28 46.67 MMS19 0 genome.wustl.edu 37 10 99218606 99218606 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 99218606 99218606 C T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.3016 p.D1006N 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 33 0 0.00 26 13 33.33 MON2 0 genome.wustl.edu 37 12 62902072 62902072 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 62902072 62902072 G A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.796 p.E266K 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 45 0 0.00 77 16 17.20 MPG 0 genome.wustl.edu 37 16 135510 135510 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 135510 135510 G A SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.631 p.D211N 1.000 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 tier1 - - 56 0 0.00 55 13 19.12 MRPL19 0 genome.wustl.edu 37 2 75881943 75881943 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 75881943 75881943 G A SNP MRPL19 ENST00000393909 human ensembl 74_37 +1 known missense c.557 p.S186N 0.996 pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 - no_errors MRPL19 HGNC ENSG00000115364 tier1 - - 42 0 0.00 40 4 9.09 MRPL4 0 genome.wustl.edu 37 19 10370426 10370426 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 10370426 10370426 C T SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known silent c.873 p.S291 0.311 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 tier1 rs147343809 - 43 0 0.00 31 17 34.69 MRPL50 0 genome.wustl.edu 37 9 104160850 104160850 + Missense_Mutation SNP T T A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 104160850 104160850 T A SNP MRPL50 ENST00000374865 human ensembl 74_37 -1 known missense c.25 p.I9F 0.000 NULL pfam_Ribosomal_L50_mt - no_errors MRPL50 HGNC ENSG00000136897 tier1 - - 37 0 0.00 31 13 29.55 MVP 0 genome.wustl.edu 37 16 29859260 29859260 + Nonsense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 29859260 29859260 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known nonsense c.2632 p.Q878* 0.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 48 0 0.00 50 4 7.41 MYB 0 genome.wustl.edu 37 6 135515008 135515008 + Missense_Mutation SNP A A C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 135515008 135515008 A C SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.795 p.L265F 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 67 0 0.00 40 16 28.57 MYO1D 0 genome.wustl.edu 37 17 30821801 30821801 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 30821801 30821801 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.2997 p.F999 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 33 0 0.00 55 5 8.33 MYO5C 0 genome.wustl.edu 37 15 52513403 52513403 + Missense_Mutation SNP T T G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 52513403 52513403 T G SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3677 p.Q1226P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 59 0 0.00 57 20 25.97 NBPF4 0 genome.wustl.edu 37 1 108769358 108769358 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 108769358 108769358 C T SNP NBPF4 ENST00000415641 human ensembl 74_37 -1 known silent c.1818 p.P606 0.000 NULL pfam_NBPF_dom - no_errors NBPF4 HGNC ENSG00000196427 tier1 - - 17 0 0.00 4 2 33.33 NOTCH4 0 genome.wustl.edu 37 6 32187428 32187428 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 32187428 32187428 C A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1451 p.C484F 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_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 69 0 0.00 48 3 5.88 NPHS1 0 genome.wustl.edu 37 19 36339270 36339270 + Silent SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 36339270 36339270 G T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.1200 p.S400 0.972 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 25 0 0.00 38 2 5.00 NUF2 0 genome.wustl.edu 37 1 163310159 163310159 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 163310159 163310159 G T SNP NUF2 ENST00000497990 human ensembl 74_37 +1 known missense c.608 p.C203F 0.246 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 tier1 - - 53 0 0.00 60 4 6.25 NUP107 0 genome.wustl.edu 37 12 69109443 69109443 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 69109443 69109443 G A SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.1006 p.D336N 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 59 0 0.00 195 103 34.56 OR4C16 0 genome.wustl.edu 37 11 55339864 55339864 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 55339864 55339864 G C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.261 p.K87N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 53 0 0.00 48 16 25.00 OR4K2 0 genome.wustl.edu 37 14 20345270 20345270 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 20345270 20345270 C T SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known silent c.844 p.L282 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 37 0 0.00 33 3 8.33 OSBPL1A 0 genome.wustl.edu 37 18 21897350 21897350 + Frame_Shift_Del DEL A A - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 21897350 21897350 A - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.747 p.F249fs 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 31 0 0.00 31 2 6.06 OSMR 0 genome.wustl.edu 37 5 38885478 38885478 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 38885478 38885478 C A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.731 p.S244Y 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 37 0 0.00 32 2 5.88 OVGP1 0 genome.wustl.edu 37 1 111957458 111957458 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 111957458 111957458 C T SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known silent c.1665 p.E555 0.015 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 tier1 - - 39 0 0.00 29 7 19.44 PCDH9 0 genome.wustl.edu 37 13 66878818 66878818 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 13 66878818 66878818 G T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3683 p.A1228D 0.990 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 29 0 0.00 25 6 19.35 PCDHA3 0 genome.wustl.edu 37 5 140181370 140181371 + Frame_Shift_Ins INS - - A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 140181370 140181371 - A INS PCDHA3 ENST00000522353 human ensembl 74_37 +1 known frame_shift_ins c.588_589 p.N198fs 0.860:0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 20 0 0.00 22 3 12.00 PCDHA5 0 genome.wustl.edu 37 5 140203783 140203783 + Missense_Mutation SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 140203783 140203783 T C SNP PCDHA5 ENST00000378126 human ensembl 74_37 +1 known missense c.2423 p.L808P 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 10 0 0.00 15 2 11.76 PDE3A 0 genome.wustl.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 20523043 20523043 G A SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.825 p.L275 0.011 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 12 0 0.00 20 4 16.67 PENK 0 genome.wustl.edu 37 8 57358447 57358447 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 57358447 57358447 C T SNP PENK ENST00000314922 human ensembl 74_37 -1 known silent c.66 p.V22 0.000 pfam_Opioid_neupept,prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 tier1 rs149051933 - 29 0 0.00 12 11 47.83 PES1 0 genome.wustl.edu 37 22 30973103 30973103 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 22 30973103 30973103 G T SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.1697 p.A566E 0.998 NULL pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 tier1 - - 45 0 0.00 75 4 5.06 PGR 0 genome.wustl.edu 37 11 100922294 100922294 + Nonsense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 100922294 100922294 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known nonsense c.2218 p.R740* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 13 0 0.00 4 9 69.23 PHF13 0 genome.wustl.edu 37 1 6681626 6681626 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 6681626 6681626 C T SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known missense c.832 p.R278W 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 51 0 0.00 30 2 6.25 PIGQ 0 genome.wustl.edu 37 16 633575 633575 + Missense_Mutation SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 633575 633575 T C SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.2224 p.S742P 0.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 34 0 0.00 46 4 8.00 PLAG1 0 genome.wustl.edu 37 8 57079116 57079116 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 57079116 57079116 C G SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1189 p.D397H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 tier1 - - 34 0 0.00 20 23 53.49 PLCE1 0 genome.wustl.edu 37 10 96005983 96005983 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 96005983 96005983 C A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.2701 p.P901T 0.910 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 25 0 0.00 46 4 8.00 PLD5 0 genome.wustl.edu 37 1 242687455 242687455 + Missense_Mutation SNP T T G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 242687455 242687455 T G SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.124 p.S42R 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 83 0 0.00 61 40 39.22 PLEKHH2 0 genome.wustl.edu 37 2 43971084 43971084 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 43971084 43971084 C T SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.3511 p.P1171S 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 13 0 0.00 17 4 19.05 PLXDC2 0 genome.wustl.edu 37 10 20568869 20568869 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 20568869 20568869 G A SNP PLXDC2 ENST00000377238 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PLXDC2 HGNC ENSG00000120594 tier1 - - 18 0 0.00 11 8 42.11 PPARGC1A 0 genome.wustl.edu 37 4 23815983 23815983 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 23815983 23815983 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.1123 p.R375W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 16 0 0.00 15 2 11.76 PPFIA2 0 genome.wustl.edu 37 12 81760937 81760937 + Missense_Mutation SNP G G C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 81760937 81760937 G C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.1495 p.Q499E 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 99 0 0.00 27 57 67.06 PPIP5K2 0 genome.wustl.edu 37 5 102465376 102465376 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 102465376 102465376 C T SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.83 p.A28V 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 tier1 - - 24 0 0.00 8 3 27.27 PPM1K 0 genome.wustl.edu 37 4 89198310 89198310 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 89198310 89198310 G T SNP PPM1K ENST00000608933 human ensembl 74_37 -1 known missense c.526 p.R176S 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 55 0 0.00 30 3 9.09 PRC1 0 genome.wustl.edu 37 15 91525181 91525181 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 91525181 91525181 C G SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known missense c.298 p.E100Q 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 tier1 - - 40 0 0.00 49 11 18.33 PRR12 0 genome.wustl.edu 37 19 50102744 50102744 + Silent SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 50102744 50102744 C G SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.3894 p.L1298 0.858 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 49 0 0.00 57 21 26.92 PSD3 0 genome.wustl.edu 37 8 18490287 18490287 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 18490287 18490287 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.2252 p.S751L 0.980 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 tier1 - - 57 0 0.00 23 9 28.12 PSMG1 0 genome.wustl.edu 37 21 40551903 40551904 + Frame_Shift_Del DEL AG AG - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 21 40551903 40551904 AG - DEL PSMG1 ENST00000331573 human ensembl 74_37 -1 known frame_shift_del c.403_402 p.C135fs 0.986:0.079 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 25 0 0.00 24 2 7.69 PTPRD 0 genome.wustl.edu 37 9 8484252 8484252 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 8484252 8484252 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3280 p.G1094R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 61 0 0.00 34 19 35.85 RALGAPA2 0 genome.wustl.edu 37 20 20563841 20563841 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 20563841 20563841 C A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.2560 p.G854C 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 49 0 0.00 35 12 25.53 RAP1GAP 0 genome.wustl.edu 37 1 21934815 21934815 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 21934815 21934815 G T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1379 p.T460K 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 30 0 0.00 34 2 5.56 RBMY1A1 0 genome.wustl.edu 37 Y 23702662 23702662 + Splice_Site SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 Y 23702662 23702662 G A SNP RBMY1A1 ENST00000303902 human ensembl 74_37 +1 known splice_site c.391+1 e3+1 0.474 - - - no_errors RBMY1A1 HGNC ENSG00000234414 tier1 - - 298 0 0.00 127 17 11.81 RSU1 0 genome.wustl.edu 37 10 16796955 16796955 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 16796955 16796955 G A SNP RSU1 ENST00000345264 human ensembl 74_37 -1 known silent c.315 p.F105 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors RSU1 HGNC ENSG00000148484 tier1 - - 69 0 0.00 58 12 16.90 RUFY3 0 genome.wustl.edu 37 4 71634361 71634361 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 71634361 71634361 G A SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.859 p.E287K 1.000 pfscan_Run pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 tier1 - - 71 0 0.00 25 20 44.44 RYR2 0 genome.wustl.edu 37 1 237991692 237991692 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 237991692 237991692 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.14620 p.D4874Y 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 48 0 0.00 42 4 8.70 SCAP 0 genome.wustl.edu 37 3 47462508 47462508 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 47462508 47462508 G A SNP SCAP ENST00000320017 human ensembl 74_37 -1 known missense c.472 p.L158F 1.000 NULL NULL - no_errors SCAP HGNC ENSG00000114650 tier1 - - 17 0 0.00 11 5 31.25 SDF2 0 genome.wustl.edu 37 17 26988906 26988906 + RNA SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 26988906 26988906 C G SNP SDF2 ENST00000585428 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDF2 HGNC ENSG00000132581 tier1 - - 26 0 0.00 13 8 38.10 SEC22B 0 genome.wustl.edu 37 1 145116193 145116193 + RNA DEL G G - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 145116193 145116193 G - DEL SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 30 0 0.00 43 8 15.69 SEMA4B 0 genome.wustl.edu 37 15 90771613 90771613 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 90771613 90771613 G A SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.2252 p.G751E 0.997 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 tier1 - - 24 0 0.00 23 15 39.47 SERPINB13 0 genome.wustl.edu 37 18 61264278 61264278 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 61264278 61264278 C G SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.857 p.P286R 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 tier1 - - 50 0 0.00 30 22 42.31 SETD1B 0 genome.wustl.edu 37 12 122247572 122247572 + Missense_Mutation SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 122247572 122247572 T C SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known missense c.721 p.S241P 0.942 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 36 0 0.00 27 4 12.90 SI 0 genome.wustl.edu 37 3 164786915 164786915 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 164786915 164786915 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.324 p.F108 0.226 pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 52 0 0.00 82 11 11.83 SKIDA1 0 genome.wustl.edu 37 10 21805721 21805723 + In_Frame_Del DEL TGG TGG - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 21805721 21805723 TGG - DEL SKIDA1 ENST00000449193 human ensembl 74_37 -1 known in_frame_del c.1031_1029 p.H347in_frame_del 1.000:1.000:1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 tier1 59 0 0.00 57 7 10.94 SLAIN2 0 genome.wustl.edu 37 4 48384732 48384732 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 48384732 48384732 C A SNP SLAIN2 ENST00000264313 human ensembl 74_37 +1 known missense c.1010 p.P337H 1.000 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 tier1 - - 35 0 0.00 12 3 20.00 SLC10A5 0 genome.wustl.edu 37 8 82606673 82606673 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 82606673 82606673 G A SNP SLC10A5 ENST00000518568 human ensembl 74_37 -1 known missense c.535 p.L179F 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 tier1 - - 15 0 0.00 13 5 27.78 SLC23A2 0 genome.wustl.edu 37 20 4913292 4913292 + RNA SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 4913292 4913292 C T SNP SLC23A2 ENST00000468355 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC23A2 HGNC ENSG00000089057 tier1 - - 9 0 0.00 8 5 38.46 SLC25A44 0 genome.wustl.edu 37 1 156180847 156180848 + RNA INS - - TG TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 1 156180847 156180848 - TG INS SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.081:0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 17 0 0.00 20 2 9.09 SLC46A2 0 genome.wustl.edu 37 9 115651961 115651961 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 115651961 115651961 C T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known missense c.1001 p.S334N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 22 0 0.00 45 4 8.16 SLC4A11 0 genome.wustl.edu 37 20 3211194 3211194 + Frame_Shift_Del DEL A A - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 3211194 3211194 A - DEL SLC4A11 ENST00000380059 human ensembl 74_37 -1 known frame_shift_del c.1511 p.F504fs 1.000 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 tier1 17 0 0.00 20 2 9.09 SMOC1 0 genome.wustl.edu 37 14 70477552 70477552 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 70477552 70477552 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.746 p.P249L 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 31 0 0.00 44 3 6.38 SNAI1 0 genome.wustl.edu 37 20 48600834 48600834 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 20 48600834 48600834 G A SNP SNAI1 ENST00000244050 human ensembl 74_37 +1 known missense c.556 p.G186R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 tier1 - - 34 0 0.00 23 5 17.86 SNORD115-1 0 genome.wustl.edu 37 15 25415878 25415878 + RNA SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 25415878 25415878 G A SNP SNORD115-1 ENST00000364961 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNORD115-1 HGNC ENSG00000201831 tier1 - - 57 0 0.00 41 9 18.00 SOS1 0 genome.wustl.edu 37 2 39249845 39249845 + Missense_Mutation SNP T T A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 39249845 39249845 T A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.1724 p.Y575F 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 39 0 0.00 49 3 5.77 SPICE1 0 genome.wustl.edu 37 3 113187975 113187975 + Nonsense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 113187975 113187975 G T SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known nonsense c.722 p.S241* 0.023 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 tier1 - - 51 0 0.00 27 10 27.03 SPOPL 0 genome.wustl.edu 37 2 139326574 139326574 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 139326574 139326574 C A SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.1103 p.A368E 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 42 0 0.00 34 2 5.56 SPTY2D1 0 genome.wustl.edu 37 11 18637589 18637589 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 18637589 18637589 G T SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.232 p.H78N 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 53 0 0.00 47 4 7.84 SRGAP1 0 genome.wustl.edu 37 12 64456779 64456779 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 64456779 64456779 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.884 p.R295K 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 tier1 - - 58 0 0.00 65 13 16.67 TANC1 0 genome.wustl.edu 37 2 160087164 160087165 + Frame_Shift_Ins INS - - GC TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 160087164 160087165 - GC INS TANC1 ENST00000263635 human ensembl 74_37 +1 known frame_shift_ins c.5227_5228 p.W1744fs 0.129:0.681 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 25 0 0.00 27 4 12.90 TBCCD1 0 genome.wustl.edu 37 3 186281915 186281915 + Silent SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 186281915 186281915 G T SNP TBCCD1 ENST00000338733 human ensembl 74_37 -1 known silent c.204 p.A68 0.528 NULL pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 27 0 0.00 73 4 5.19 TENM2 0 genome.wustl.edu 37 5 167675195 167675195 + Frame_Shift_Del DEL C C - TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 167675195 167675195 C - DEL TENM2 ENST00000518659 human ensembl 74_37 +1 known frame_shift_del c.7251 p.L2419fs 1.000 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 28 0 0.00 27 3 10.00 TET2 0 genome.wustl.edu 37 4 106157695 106157695 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 4 106157695 106157695 C A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.2596 p.Q866K 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 22 0 0.00 12 2 14.29 TET3 0 genome.wustl.edu 37 2 74327953 74327953 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 74327953 74327953 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.3633 p.P1211 0.780 NULL NULL - no_errors TET3 HGNC ENSG00000187605 20 0 0.00 32 4 11.11 TFAP2B 0 genome.wustl.edu 37 6 50805745 50805745 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 50805745 50805745 G T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.906 p.L302F 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 40 0 0.00 42 4 8.51 TMEM249 0 genome.wustl.edu 37 8 145578374 145578374 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 8 145578374 145578374 G A SNP TMEM249 ENST00000398633 human ensembl 74_37 -1 known silent c.54 p.F18 0.716 NULL NULL - no_errors TMEM249 HGNC ENSG00000214597 tier1 - - 36 0 0.00 24 14 36.84 TNKS1BP1 0 genome.wustl.edu 37 11 57077682 57077682 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 11 57077682 57077682 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2503 p.R835W 0.189 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 22 0 0.00 24 3 11.11 TNKS2 0 genome.wustl.edu 37 10 93604699 93604699 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 10 93604699 93604699 G T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.2083 p.A695S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 47 0 0.00 64 4 5.88 TOX3 0 genome.wustl.edu 37 16 52484196 52484196 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 52484196 52484196 G T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.671 p.A224D 0.996 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 17 0 0.00 15 4 21.05 TP53 0 genome.wustl.edu 37 17 7578553 7578553 + Missense_Mutation SNP T T G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 17 7578553 7578553 T G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.377 p.Y126S 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 - - 31 0 0.00 6 7 53.85 TSHR 0 genome.wustl.edu 37 14 81609998 81609998 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 81609998 81609998 G A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.1596 p.K532 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 tier1 - - 30 0 0.00 27 12 30.77 TTN 0 genome.wustl.edu 37 2 179399177 179399177 + Silent SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 179399177 179399177 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.94461 p.V31487 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 19 0 0.00 19 7 26.92 TTN 0 genome.wustl.edu 37 2 179459077 179459077 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 179459077 179459077 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50440 p.E16814K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 44 0 0.00 59 12 16.90 TTN 0 genome.wustl.edu 37 2 179393123 179393123 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 179393123 179393123 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.99551 p.R33184H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 15 0 0.00 36 2 5.26 TXNRD1 0 genome.wustl.edu 37 12 104682792 104682792 + Missense_Mutation SNP A A T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 104682792 104682792 A T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.388 p.I130L 0.062 superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 36 0 0.00 9 17 65.38 TYMS 0 genome.wustl.edu 37 18 671442 671442 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 18 671442 671442 G A SNP TYMS ENST00000323274 human ensembl 74_37 +1 known silent c.795 p.L265 0.938 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 tier1 - - 71 0 0.00 76 7 8.43 UBE2G2 0 genome.wustl.edu 37 21 46207977 46207977 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 21 46207977 46207977 G T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known missense c.77 p.A26E 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 tier1 - - 40 0 0.00 36 4 10.00 UNC13C 0 genome.wustl.edu 37 15 54308000 54308000 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 15 54308000 54308000 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2900 p.R967I 0.998 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 32 0 0.00 21 2 8.70 VARS2 0 genome.wustl.edu 37 6 30888139 30888139 + Silent SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 6 30888139 30888139 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known silent c.1413 p.K471 0.812 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase 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_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 tier1 - - 17 0 0.00 13 6 31.58 VCAN 0 genome.wustl.edu 37 5 82837230 82837230 + Missense_Mutation SNP A A G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 82837230 82837230 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.8408 p.N2803S 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 27 0 0.00 22 17 43.59 WBP4 0 genome.wustl.edu 37 13 41654920 41654920 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 13 41654920 41654920 G A SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known missense c.895 p.E299K 1.000 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 tier1 - - 42 0 0.00 32 4 11.11 WDR33 0 genome.wustl.edu 37 2 128520663 128520663 + Missense_Mutation SNP G G A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 128520663 128520663 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 21 0 0.00 27 4 12.90 XPOT 0 genome.wustl.edu 37 12 64823865 64823865 + Nonsense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 12 64823865 64823865 C T SNP XPOT ENST00000332707 human ensembl 74_37 +1 known nonsense c.1774 p.Q592* 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 - - 45 0 0.00 125 14 10.00 YEATS2 0 genome.wustl.edu 37 3 183495460 183495460 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 3 183495460 183495460 C T SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.2708 p.S903F 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 27 0 0.00 51 3 5.56 YWHAQ 0 genome.wustl.edu 37 2 9725328 9725328 + RNA SNP T T C TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 9725328 9725328 T C SNP YWHAQ ENST00000474715 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors YWHAQ HGNC ENSG00000134308 tier1 - - 28 0 0.00 38 20 34.48 ZFYVE1 0 genome.wustl.edu 37 14 73436427 73436427 + Silent SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 14 73436427 73436427 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known silent c.2361 p.P787 0.964 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 54 0 0.00 54 4 6.90 ZFYVE16 0 genome.wustl.edu 37 5 79733702 79733702 + Nonsense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 79733702 79733702 C T SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known nonsense c.1198 p.Q400* 0.016 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 tier1 - - 21 0 0.00 34 11 24.44 ZFYVE16 0 genome.wustl.edu 37 5 79733788 79733788 + Missense_Mutation SNP C C G TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 5 79733788 79733788 C G SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.1284 p.F428L 0.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 tier1 - - 18 0 0.00 36 9 20.00 ZNF462 0 genome.wustl.edu 37 9 109686919 109686919 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 9 109686919 109686919 C A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.726 p.N242K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 17 0 0.00 23 24 51.06 ZNF469 0 genome.wustl.edu 37 16 88505440 88505440 + Silent SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 16 88505440 88505440 C A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known silent c.11478 p.P3826 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 24 0 0.00 39 9 18.75 ZNF534 0 genome.wustl.edu 37 19 52941771 52941771 + Missense_Mutation SNP C C T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 19 52941771 52941771 C T SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.1097 p.P366L 0.706 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 ZNF534 HGNC ENSG00000198633 tier1 - - 21 0 0.00 21 23 52.27 ZNF638 0 genome.wustl.edu 37 2 71635285 71635285 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 71635285 71635285 C A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.3169 p.Q1057K 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 45 0 0.00 38 4 9.52 ZNF804A 0 genome.wustl.edu 37 2 185803049 185803049 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db39105a-4a30-4485-a1d9-4b0b0f055efa 25fe2333-04a2-4bd5-9f40-108703ff4e45 2 185803049 185803049 G T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2926 p.A976S 0.998 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 24 0 0.00 20 5 20.00