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 ABCB11 0 genome.wustl.edu 37 2 169870832 169870832 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 169870832 169870832 C G SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.131 p.R44T 0.163 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 46 0 0.00 51 6 10.53 ABCG5 0 genome.wustl.edu 37 2 44065707 44065707 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 44065707 44065707 G A SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known silent c.112 p.L38 0.997 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 tier1 - - 60 0 0.00 54 7 11.48 ACAN 0 genome.wustl.edu 37 15 89398787 89398787 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 89398787 89398787 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2971 p.D991N 0.008 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_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 ACAN HGNC ENSG00000157766 tier1 - - 26 0 0.00 26 7 21.21 ACAT2 0 genome.wustl.edu 37 6 160196340 160196340 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 160196340 160196340 G A SNP ACAT2 ENST00000541436 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 tier1 - - 47 0 0.00 61 8 11.59 ACPP 0 genome.wustl.edu 37 3 132086565 132086565 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 132086565 132086565 G A SNP ACPP ENST00000351273 human ensembl 74_37 +1 known missense c.1156 p.A386T 0.451 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 44 0 0.00 62 4 6.06 ADAMTS15 0 genome.wustl.edu 37 11 130318901 130318901 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 130318901 130318901 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.33 p.F11 0.004 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 20 0 0.00 47 3 6.00 ADCY7 0 genome.wustl.edu 37 16 50345982 50345982 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 50345982 50345982 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.2484 p.K828 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 38 0 0.00 69 5 6.76 ADPGK 0 genome.wustl.edu 37 15 73048618 73048618 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 73048618 73048618 C G SNP ADPGK ENST00000311669 human ensembl 74_37 -1 known missense c.814 p.E272Q 1.000 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 tier1 - - 53 0 0.00 81 18 18.18 AHDC1 0 genome.wustl.edu 37 1 27877849 27877849 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 27877849 27877849 C G SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.778 p.E260Q 0.996 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 51 0 0.00 70 8 10.26 AHDC1 0 genome.wustl.edu 37 1 27878086 27878086 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 27878086 27878086 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.541 p.E181K 0.992 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 41 0 0.00 26 2 7.14 AIMP1 0 genome.wustl.edu 37 4 107246215 107246215 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 107246215 107246215 G C SNP AIMP1 ENST00000394701 human ensembl 74_37 +1 known missense c.121 p.E41Q 1.000 superfamily_t-SNARE pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_t-SNARE,pfscan_tRNA-bd_dom - no_errors AIMP1 HGNC ENSG00000164022 tier1 - - 30 0 0.00 24 6 19.35 AKAP8 0 genome.wustl.edu 37 19 15483682 15483682 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 15483682 15483682 G A SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.841 p.R281W 0.788 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 30 0 0.00 37 3 7.50 AMOT 0 genome.wustl.edu 37 X 112058657 112058657 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 112058657 112058657 G A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1321 p.L441F 1.000 superfamily_Prefoldin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 tier1 - - 29 0 0.00 62 9 12.68 APLP2 0 genome.wustl.edu 37 11 130011951 130011951 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 130011951 130011951 C G SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.2172 p.I724M 1.000 pfam_APP_amyloid_C pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 21 0 0.00 51 4 7.27 ATP10B 0 genome.wustl.edu 37 5 160114974 160114974 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 160114974 160114974 C G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.108 p.G36 0.000 NULL 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 ATP10B HGNC ENSG00000118322 tier1 - - 37 0 0.00 70 5 6.67 ATP6V1D 0 genome.wustl.edu 37 14 67819642 67819642 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 67819642 67819642 C G SNP ATP6V1D ENST00000216442 human ensembl 74_37 -1 known missense c.157 p.E53Q 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 tier1 - - 75 0 0.00 127 18 12.41 ATR 0 genome.wustl.edu 37 3 142224118 142224118 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 142224118 142224118 C G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.5059 p.D1687H 1.000 pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 30 0 0.00 38 4 9.52 B3GALT4 0 genome.wustl.edu 37 6 33246327 33246327 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 33246327 33246327 G C SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.1131 p.Q377H 0.054 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 41 0 0.00 40 3 6.98 BARX2 0 genome.wustl.edu 37 11 129306730 129306730 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 129306730 129306730 C G SNP BARX2 ENST00000281437 human ensembl 74_37 +1 known missense c.272 p.P91R 0.050 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 tier1 - - 51 0 0.00 53 5 8.62 BCAR1 0 genome.wustl.edu 37 16 75298373 75298373 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 75298373 75298373 G C SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.26 p.S9C 0.001 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 25 0 0.00 56 9 13.85 BEND2 0 genome.wustl.edu 37 X 18221839 18221839 + Missense_Mutation SNP A A C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 18221839 18221839 A C SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.689 p.F230C 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 27 0 0.00 68 14 17.07 BEND3 0 genome.wustl.edu 37 6 107391610 107391610 + Nonsense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 107391610 107391610 G C SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known nonsense c.785 p.S262* 0.982 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 47 0 0.00 74 9 10.84 BPGM 0 genome.wustl.edu 37 7 134346821 134346821 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 134346821 134346821 C G SNP BPGM ENST00000344924 human ensembl 74_37 +1 known missense c.562 p.H188D 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 tier1 - - 38 0 0.00 64 5 7.25 BRCA2 0 genome.wustl.edu 37 13 32954186 32954186 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 32954186 32954186 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9160 p.P3054S 0.000 pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 69 0 0.00 80 5 5.88 BRD1 0 genome.wustl.edu 37 22 50217944 50217944 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 50217944 50217944 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.22 p.H8Y 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 11 0 0.00 28 14 33.33 BRD9 0 genome.wustl.edu 37 5 876276 876276 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 876276 876276 G T SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known missense c.1323 p.D441E 0.804 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 23 0 0.00 22 2 8.33 BRWD3 0 genome.wustl.edu 37 X 80001094 80001094 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 80001094 80001094 C G SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.565 p.D189H 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 35 0 0.00 40 9 18.37 BTBD6 0 genome.wustl.edu 37 14 105716690 105716690 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 105716690 105716690 C A SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known missense c.1139 p.S380Y 0.996 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 tier1 - - 20 0 0.00 15 4 21.05 C17orf104 0 genome.wustl.edu 37 17 42743838 42743838 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 42743838 42743838 G A SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known missense c.559 p.D187N 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 23 0 0.00 40 4 9.09 C17orf77 0 genome.wustl.edu 37 17 72588749 72588749 + Silent SNP T T A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 72588749 72588749 T A SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known silent c.564 p.T188 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 tier1 - - 33 0 0.00 42 7 14.29 C17orf78 0 genome.wustl.edu 37 17 35746184 35746184 + Nonsense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 35746184 35746184 C T SNP C17orf78 ENST00000300618 human ensembl 74_37 +1 known nonsense c.637 p.Q213* 0.076 NULL NULL - no_errors C17orf78 HGNC ENSG00000167230 tier1 - - 34 0 0.00 43 12 21.82 C3orf55 0 genome.wustl.edu 37 3 157289013 157289013 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 157289013 157289013 C G SNP C3orf55 ENST00000449199 human ensembl 74_37 +1 known missense c.131 p.S44C 0.173 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 102 0 0.00 115 21 15.44 C7orf72 0 genome.wustl.edu 37 7 50198667 50198667 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 50198667 50198667 G T SNP C7orf72 ENST00000297001 human ensembl 74_37 +1 known missense c.1219 p.D407Y 0.038 NULL NULL - no_errors C7orf72 HGNC ENSG00000164500 tier1 - - 54 0 0.00 60 39 39.39 C8orf34 0 genome.wustl.edu 37 8 69434053 69434053 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 69434053 69434053 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.785 p.S262F 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 rs150489120 - 37 0 0.00 69 5 6.76 C9 0 genome.wustl.edu 37 5 39341298 39341298 + Nonsense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 39341298 39341298 G T SNP C9 ENST00000263408 human ensembl 74_37 -1 known nonsense c.426 p.C142* 1.000 superfamily_LDrepeatLR_classA_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 17 0 0.00 34 4 10.53 CACNA1A 0 genome.wustl.edu 37 19 13397432 13397432 + Silent SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 13397432 13397432 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.3438 p.V1146 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 28 0 0.00 28 5 15.15 CAND1 0 genome.wustl.edu 37 12 67691219 67691219 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 67691219 67691219 C T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.524 p.S175L 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 tier1 - - 38 0 0.00 85 5 5.56 CCDC50 0 genome.wustl.edu 37 3 191087747 191087747 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 191087747 191087747 G C SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.370 p.E124Q 1.000 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 tier1 - - 57 0 0.00 96 6 5.88 CCDC88A 0 genome.wustl.edu 37 2 55544775 55544775 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 55544775 55544775 G C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.3527 p.S1176C 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 31 0 0.00 27 3 10.00 CCIN 0 genome.wustl.edu 37 9 36169685 36169685 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 36169685 36169685 G T SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.186 p.M62I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 tier1 - - 24 0 0.00 38 5 11.63 CD55 0 genome.wustl.edu 37 1 207499005 207499005 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 207499005 207499005 C G SNP CD55 ENST00000314754 human ensembl 74_37 +1 known missense c.517 p.Q173E 0.043 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 tier1 - - 48 0 0.00 96 8 7.69 CDC37L1 0 genome.wustl.edu 37 9 4697838 4697838 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 4697838 4697838 G C SNP CDC37L1 ENST00000381854 human ensembl 74_37 +1 known missense c.706 p.D236H 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 tier1 - - 70 0 0.00 88 13 12.75 CDH18 0 genome.wustl.edu 37 5 19473394 19473394 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 19473394 19473394 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.2314 p.P772T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 50 0 0.00 58 21 26.58 CDH23 0 genome.wustl.edu 37 10 73499506 73499506 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 73499506 73499506 G C SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4480 p.E1494Q 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 44 0 0.00 54 9 14.29 CDK10 0 genome.wustl.edu 37 16 89755673 89755673 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 89755673 89755673 G A SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known missense c.101 p.R34Q 1.000 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 CDK10 HGNC ENSG00000185324 tier1 - - 63 0 0.00 111 7 5.93 CDKN1A 0 genome.wustl.edu 37 6 36652282 36652282 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 36652282 36652282 G C SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.506 p.G169A 0.197 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 26 0 0.00 41 3 6.82 CEP290 0 genome.wustl.edu 37 12 88481593 88481593 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 88481593 88481593 G C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.4164 p.I1388M 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 48 0 0.00 51 9 15.00 CFHR4 0 genome.wustl.edu 37 1 196876605 196876605 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 196876605 196876605 G T SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.773 p.W258L 0.984 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 22 0 0.00 45 5 10.00 CHAF1B 0 genome.wustl.edu 37 21 37775142 37775142 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 21 37775142 37775142 C T SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known silent c.750 p.L250 0.978 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 tier1 - - 53 0 0.00 74 9 10.84 CHGB 0 genome.wustl.edu 37 20 5904375 5904375 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 5904375 5904375 C G SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1585 p.L529V 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 tier1 - - 14 0 0.00 16 7 30.43 CHML 0 genome.wustl.edu 37 1 241798714 241798714 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 241798714 241798714 G C SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.355 p.L119V 0.093 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 tier1 - - 19 0 0.00 25 5 16.67 CHST12 0 genome.wustl.edu 37 7 2472467 2472467 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 2472467 2472467 G A SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known missense c.193 p.D65N 0.001 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 tier1 - - 65 0 0.00 130 12 8.45 CLPTM1 0 genome.wustl.edu 37 19 45476365 45476365 + Silent SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 45476365 45476365 C A SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.207 p.I69 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 tier1 - - 36 0 0.00 41 10 19.61 CLTCL1 0 genome.wustl.edu 37 22 19241719 19241719 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 19241719 19241719 C G SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.282 p.E94D 1.000 superfamily_Clathrin_H-chain_propeller_N,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 - - 39 0 0.00 60 11 15.49 COBLL1 0 genome.wustl.edu 37 2 165561596 165561596 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 165561596 165561596 C G SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.1214 p.R405T 0.001 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 - - 24 0 0.00 45 8 15.09 COL4A4 0 genome.wustl.edu 37 2 227896937 227896937 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 227896937 227896937 C G SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.3633 p.E1211D 0.734 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 22 0 0.00 29 4 12.12 COL4A6 0 genome.wustl.edu 37 X 107400267 107400267 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 107400267 107400267 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.5039 p.R1680Q 0.967 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 19 0 0.00 29 11 27.50 COPA 0 genome.wustl.edu 37 1 160268910 160268910 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 160268910 160268910 G C SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1839 p.I613M 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 45 0 0.00 84 5 5.62 COPA 0 genome.wustl.edu 37 1 160276271 160276271 + Missense_Mutation SNP T T A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 160276271 160276271 T A SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1315 p.N439Y 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 28 0 0.00 42 3 6.67 CRCP 0 genome.wustl.edu 37 7 65617257 65617257 + Silent SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 65617257 65617257 C A SNP CRCP ENST00000395326 human ensembl 74_37 +1 known silent c.360 p.V120 0.998 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 23 0 0.00 31 4 11.43 CRCP 0 genome.wustl.edu 37 7 65617267 65617267 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 65617267 65617267 C T SNP CRCP ENST00000395326 human ensembl 74_37 +1 known silent c.370 p.L124 1.000 superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 22 0 0.00 32 3 8.57 CSF2RB 0 genome.wustl.edu 37 22 37326490 37326490 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 37326490 37326490 G A SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known silent c.792 p.V264 0.994 pirsf_IL3_rcpt_beta,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 51 0 0.00 61 18 22.78 CSMD1 0 genome.wustl.edu 37 8 3889611 3889611 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 3889611 3889611 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.426 p.S142R 0.979 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 21 0 0.00 21 5 19.23 CXCL1 0 genome.wustl.edu 37 4 74735691 74735691 + Missense_Mutation SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 74735691 74735691 A G SNP CXCL1 ENST00000395761 human ensembl 74_37 +1 known missense c.293 p.E98G 0.003 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL1 HGNC ENSG00000163739 28 0 0.00 37 2 5.13 CYB5R2 0 genome.wustl.edu 37 11 7690913 7690913 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 7690913 7690913 C T SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known silent c.201 p.R67 0.981 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 tier1 - - 49 0 0.00 74 4 5.13 DBX2 0 genome.wustl.edu 37 12 45410229 45410229 + Nonsense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 45410229 45410229 G C SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known nonsense c.860 p.S287* 0.672 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 tier1 - - 60 0 0.00 70 12 14.63 DCC 0 genome.wustl.edu 37 18 50976874 50976874 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 18 50976874 50976874 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3234 p.P1078 0.974 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 65 0 0.00 92 19 17.12 DCLK1 0 genome.wustl.edu 37 13 36362275 36362275 + RNA SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 36362275 36362275 G A SNP DCLK1 ENST00000477664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 63 0 0.00 87 10 10.31 DDX19A 0 genome.wustl.edu 37 16 70390094 70390094 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 70390094 70390094 G A SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known silent c.237 p.L79 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 tier1 - - 47 0 0.00 67 4 5.63 DDX39A 0 genome.wustl.edu 37 19 14522410 14522410 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 14522410 14522410 C A SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known missense c.337 p.V113L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 tier1 - - 76 0 0.00 91 8 8.08 DDX3X 0 genome.wustl.edu 37 X 41206955 41206955 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 41206955 41206955 G C SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.1972 p.D658H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 16 0 0.00 15 6 28.57 DEFB129 0 genome.wustl.edu 37 20 210168 210168 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 210168 210168 C A SNP DEFB129 ENST00000246105 human ensembl 74_37 +1 known missense c.308 p.P103H 0.000 NULL NULL - no_errors DEFB129 HGNC ENSG00000125903 22 0 0.00 38 2 5.00 DHTKD1 0 genome.wustl.edu 37 10 12126748 12126748 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 12126748 12126748 C G SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.520 p.Q174E 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 38 0 0.00 46 4 8.00 DIAPH2 0 genome.wustl.edu 37 X 96502803 96502803 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 96502803 96502803 G C SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.2809 p.E937Q 0.957 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 53 0 0.00 68 15 18.07 DIDO1 0 genome.wustl.edu 37 20 61510742 61510742 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 61510742 61510742 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6566 p.R2189Q 0.781 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 70 0 0.00 91 9 9.00 DNAAF1 0 genome.wustl.edu 37 16 84199429 84199429 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 84199429 84199429 G A SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.904 p.E302K 1.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 tier1 - - 48 0 0.00 44 10 18.52 DNAH12 0 genome.wustl.edu 37 3 57399535 57399535 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 57399535 57399535 C T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known silent c.5901 p.L1967 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 24 0 0.00 23 3 11.54 DNAH14 0 genome.wustl.edu 37 1 225576110 225576110 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 225576110 225576110 G A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known silent c.12801 p.L4267 0.199 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 38 0 0.00 74 10 11.63 DNAH17 0 genome.wustl.edu 37 17 76423160 76423160 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 76423160 76423160 C G SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.12687 p.E4229D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 29 0 0.00 42 9 17.65 DNAH7 0 genome.wustl.edu 37 2 196912149 196912149 + Missense_Mutation SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 196912149 196912149 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.325 p.T109A 0.846 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 52 0 0.00 72 13 15.29 DOCK9 0 genome.wustl.edu 37 13 99538803 99538803 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 99538803 99538803 G C SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.2122 p.P708A 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 tier1 - - 26 0 0.00 24 5 17.24 DSCAML1 0 genome.wustl.edu 37 11 117302357 117302357 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 117302357 117302357 G C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5447 p.S1816C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 58 0 0.00 61 8 11.43 DST 0 genome.wustl.edu 37 6 56324949 56324949 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 56324949 56324949 C G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.22970 p.R7657T 0.995 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 40 0 0.00 39 6 13.33 DYNC1H1 0 genome.wustl.edu 37 14 102499768 102499768 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 102499768 102499768 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.10360 p.L3454 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 27 0 0.00 27 6 18.18 ELFN2 0 genome.wustl.edu 37 22 37770925 37770925 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 37770925 37770925 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.650 p.S217L 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 126 0 0.00 169 30 15.08 EME1 0 genome.wustl.edu 37 17 48452978 48452978 + Missense_Mutation SNP A A C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 48452978 48452978 A C SNP EME1 ENST00000393271 human ensembl 74_37 +1 known missense c.409 p.K137Q 0.140 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 36 0 0.00 49 5 9.26 ENSG00000161103 0 genome.wustl.edu 37 22 18839191 18839191 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 18839191 18839191 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 9 0 0.00 7 7 50.00 ENSG00000214915 0 genome.wustl.edu 37 X 150684403 150684403 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 150684403 150684403 G C SNP ENSG00000214915 ENST00000454307 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XX-FW80269A6.1 Clone_based_vega_gene ENSG00000214915 tier1 - - 50 0 0.00 76 7 8.43 ENSG00000224631 0 genome.wustl.edu 37 16 61089574 61089574 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 61089574 61089574 C T SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 22 0 0.00 37 8 17.78 ENSG00000247228 0 genome.wustl.edu 37 16 70190311 70190311 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 70190311 70190311 C T SNP ENSG00000247228 ENST00000566989 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-296I10.3 Clone_based_vega_gene ENSG00000247228 tier1 - - 56 0 0.00 72 6 7.69 ENSG00000257761 0 genome.wustl.edu 37 12 71976149 71976149 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 71976149 71976149 C T SNP ENSG00000257761 ENST00000546601 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-186F10.2 Clone_based_vega_gene ENSG00000257761 tier1 - - 18 0 0.00 27 5 15.62 ENSG00000260772 0 genome.wustl.edu 37 16 69737362 69737362 + RNA SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 69737362 69737362 G T SNP ENSG00000260772 ENST00000561622 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors RP11-311C24.1 Clone_based_vega_gene ENSG00000260772 tier1 - - 75 0 0.00 75 35 31.82 ENSG00000268412 0 genome.wustl.edu 37 2 26251217 26251217 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 26251217 26251217 C G SNP ENSG00000268412 ENST00000599234 human ensembl 74_37 -1 novel missense c.265 p.E89Q 0.003 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors AC013449.1 Clone_based_ensembl_gene ENSG00000268412 tier1 - - 53 0 0.00 33 5 13.16 ENSG00000273398 0 genome.wustl.edu 37 2 68384711 68384711 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 68384711 68384711 G C SNP ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known missense c.878 p.A293G 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 tier1 - - 61 0 0.00 76 5 6.17 EPHA3 0 genome.wustl.edu 37 3 89445061 89445061 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 89445061 89445061 G A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1381 p.E461K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 26 0 0.00 39 3 7.14 EPM2AIP1 0 genome.wustl.edu 37 3 37033360 37033360 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 37033360 37033360 G C SNP EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known silent c.1209 p.V403 0.109 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 23 0 0.00 30 3 9.09 EVA1C 0 genome.wustl.edu 37 21 33887364 33887364 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 21 33887364 33887364 C T SNP EVA1C ENST00000300255 human ensembl 74_37 +1 known missense c.1190 p.S397L 0.982 NULL pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom - no_errors EVA1C HGNC ENSG00000166979 22 0 0.00 19 3 13.64 FAM208B 0 genome.wustl.edu 37 10 5784127 5784127 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 5784127 5784127 C G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2395 p.L799V 1.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 41 0 0.00 54 4 6.90 FAM71A 0 genome.wustl.edu 37 1 212798703 212798703 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 212798703 212798703 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.484 p.D162N 0.965 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 28 0 0.00 58 5 7.94 FAM71C 0 genome.wustl.edu 37 12 100043170 100043170 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 100043170 100043170 G A SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known silent c.720 p.E240 0.006 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 tier1 - - 30 0 0.00 51 7 12.07 FAM71D 0 genome.wustl.edu 37 14 67669818 67669818 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 67669818 67669818 G C SNP FAM71D ENST00000311864 human ensembl 74_37 +1 known missense c.167 p.R56T 0.999 NULL pfam_DUF3699 - no_errors FAM71D HGNC ENSG00000172717 tier1 - - 55 0 0.00 58 8 12.12 FAM9B 0 genome.wustl.edu 37 X 8997386 8997386 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 8997386 8997386 C G SNP FAM9B ENST00000327220 human ensembl 74_37 -1 known missense c.355 p.E119Q 0.002 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 tier1 - - 43 0 0.00 65 10 13.33 FOXI3 0 genome.wustl.edu 37 2 88748296 88748296 + RNA SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 88748296 88748296 A G SNP FOXI3 ENST00000398142 human ensembl 74_37 -1 known rna NULL NULL 0.392 - - - no_errors FOXI3 HGNC ENSG00000214336 tier1 - - 26 0 0.00 33 5 13.16 FPGT 0 genome.wustl.edu 37 1 74670407 74670407 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 74670407 74670407 C T SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.715 p.R239C 1.000 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 19 0 0.00 25 2 7.41 FRMD6 0 genome.wustl.edu 37 14 52187044 52187044 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 52187044 52187044 C T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known silent c.1296 p.S432 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 tier1 - - 30 0 0.00 40 8 16.67 FUCA2 0 genome.wustl.edu 37 6 143825347 143825347 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 143825347 143825347 G T SNP FUCA2 ENST00000002165 human ensembl 74_37 -1 known missense c.455 p.A152D 0.966 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 18 0 0.00 33 2 5.71 FUK 0 genome.wustl.edu 37 16 70513177 70513177 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 70513177 70513177 G C SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.3042 p.M1014I 1.000 pfam_GHMP_kinase_C_dom pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 47 0 0.00 70 6 7.89 GCN1L1 0 genome.wustl.edu 37 12 120591024 120591024 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 120591024 120591024 G C SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4055 p.S1352C 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 28 0 0.00 35 3 7.89 GDAP1L1 0 genome.wustl.edu 37 20 42908227 42908227 + Nonsense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 42908227 42908227 C G SNP GDAP1L1 ENST00000447658 human ensembl 74_37 +1 known nonsense c.290 p.S97* 0.879 superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 tier1 - - 47 0 0.00 47 9 16.07 GINS2 0 genome.wustl.edu 37 16 85711917 85711917 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 85711917 85711917 G A SNP GINS2 ENST00000253462 human ensembl 74_37 -1 known silent c.459 p.I153 1.000 pfam_GINS_complex,pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 tier1 - - 45 0 0.00 62 8 11.43 GJA9 0 genome.wustl.edu 37 1 39340430 39340430 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 39340430 39340430 G A SNP GJA9 ENST00000357771 human ensembl 74_37 -1 known silent c.1341 p.F447 0.004 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 tier1 - - 36 0 0.00 56 8 12.50 GLIPR1L1 0 genome.wustl.edu 37 12 75728517 75728517 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 75728517 75728517 G A SNP GLIPR1L1 ENST00000378695 human ensembl 74_37 +1 known silent c.9 p.L3 0.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC ENSG00000173401 tier1 - - 58 0 0.00 90 14 13.46 GPBP1L1 0 genome.wustl.edu 37 1 46099807 46099807 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 46099807 46099807 C G SNP GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known silent c.846 p.V282 0.998 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 53 0 0.00 67 4 5.63 GPR26 0 genome.wustl.edu 37 10 125447475 125447475 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 125447475 125447475 C G SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.813 p.I271M 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 tier1 - - 34 0 0.00 29 6 17.14 GREB1L 0 genome.wustl.edu 37 18 19029503 19029503 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 18 19029503 19029503 G C SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.1426 p.E476Q 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 34 0 0.00 28 6 17.65 HAS2 0 genome.wustl.edu 37 8 122626975 122626975 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 122626975 122626975 G T SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.1033 p.L345I 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 tier1 - - 67 0 0.00 130 8 5.80 HERC2P3 0 genome.wustl.edu 37 15 20644361 20644361 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 20644361 20644361 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 74 0 0.00 92 6 6.12 HIST1H2BK 0 genome.wustl.edu 37 6 27114569 27114569 + Silent SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 27114569 27114569 T C SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known silent c.9 p.E3 0.083 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 56 0 0.00 95 8 7.77 HMCN1 0 genome.wustl.edu 37 1 185902877 185902877 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 185902877 185902877 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1749 p.F583L 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 77 0 0.00 139 17 10.90 HMCN1 0 genome.wustl.edu 37 1 185902924 185902924 + Nonsense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 185902924 185902924 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.1796 p.S599* 0.006 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 75 0 0.00 153 11 6.71 HSD11B2 0 genome.wustl.edu 37 16 67469707 67469707 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 67469707 67469707 G A SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known missense c.442 p.V148M 0.208 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 tier1 - - 17 0 0.00 27 9 25.00 HSPA2 0 genome.wustl.edu 37 14 65009364 65009364 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 65009364 65009364 G A SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1797 p.Q599 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 15 0 0.00 31 4 11.43 HTR3A 0 genome.wustl.edu 37 11 113856798 113856798 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 113856798 113856798 C T SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known silent c.624 p.V208 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 tier1 - - 56 0 0.00 77 9 10.47 ICAM5 0 genome.wustl.edu 37 19 10401883 10401883 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 10401883 10401883 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.218 p.R73Q 0.994 pfam_ICAM_N pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 24 0 0.00 30 3 9.09 IFI27L2 0 genome.wustl.edu 37 14 94594153 94594153 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 94594153 94594153 C G SNP IFI27L2 ENST00000238609 human ensembl 74_37 -1 known missense c.376 p.E126Q 0.726 NULL pfam_IFI6/IFI27 - no_errors IFI27L2 HGNC ENSG00000119632 tier1 - - 121 0 0.00 200 17 7.83 INTS2 0 genome.wustl.edu 37 17 59949628 59949628 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 59949628 59949628 G C SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2800 p.Q934E 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 46 0 0.00 60 10 14.29 IPP 0 genome.wustl.edu 37 1 46193360 46193360 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 46193360 46193360 G A SNP IPP ENST00000396478 human ensembl 74_37 -1 known nonsense c.991 p.Q331* 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 tier1 - - 58 0 0.00 63 9 12.50 IPPK 0 genome.wustl.edu 37 9 95414874 95414874 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 95414874 95414874 C G SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.273 p.K91N 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 53 0 0.00 51 3 5.56 ITGA8 0 genome.wustl.edu 37 10 15688954 15688954 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 15688954 15688954 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.1098 p.V366 0.001 smart_Int_alpha_beta-p 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 tier1 - - 61 0 0.00 75 12 13.79 KALRN 0 genome.wustl.edu 37 3 124132352 124132352 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 124132352 124132352 G C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.2376 p.L792F 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 31 0 0.00 42 6 12.50 KANSL2 0 genome.wustl.edu 37 12 49065687 49065687 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 49065687 49065687 G C SNP KANSL2 ENST00000420613 human ensembl 74_37 -1 known missense c.604 p.R202G 1.000 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 tier1 - - 54 0 0.00 65 5 7.14 KCTD16 0 genome.wustl.edu 37 5 143586365 143586365 + Missense_Mutation SNP A A C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 143586365 143586365 A C SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.88 p.N30H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 13 0 0.00 34 3 8.11 KCTD4 0 genome.wustl.edu 37 13 45768277 45768277 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 45768277 45768277 G A SNP KCTD4 ENST00000379108 human ensembl 74_37 -1 known silent c.426 p.F142 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 tier1 - - 33 0 0.00 46 4 8.00 KERA 0 genome.wustl.edu 37 12 91449383 91449383 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 91449383 91449383 C T SNP KERA ENST00000266719 human ensembl 74_37 -1 known missense c.676 p.E226K 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 tier1 - - 48 0 0.00 63 5 7.35 KHDRBS2 0 genome.wustl.edu 37 6 62688035 62688035 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 62688035 62688035 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.419 p.P140Q 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 32 0 0.00 40 3 6.98 KLHL20 0 genome.wustl.edu 37 1 173744844 173744844 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 173744844 173744844 G C SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known missense c.1501 p.G501R 0.992 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 tier1 - - 38 0 0.00 75 8 9.64 KMT2A 0 genome.wustl.edu 37 11 118375063 118375063 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 118375063 118375063 C G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.8447 p.S2816C 0.979 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 36 0 0.00 41 4 8.89 KMT2C 0 genome.wustl.edu 37 7 151859780 151859780 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 151859780 151859780 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.10882 p.D3628N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 37 0 0.00 56 14 20.00 KRT28 0 genome.wustl.edu 37 17 38948703 38948703 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 38948703 38948703 C G SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.1371 p.K457N 0.962 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 tier1 - - 48 0 0.00 65 5 7.14 KRT9 0 genome.wustl.edu 37 17 39723652 39723652 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 39723652 39723652 C T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.1745 p.S582N 0.996 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 tier1 - - 101 0 0.00 176 25 12.44 LAMA4 0 genome.wustl.edu 37 6 112443245 112443245 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 112443245 112443245 C G SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.4447 p.E1483Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 51 0 0.00 76 10 11.63 LAMA4 0 genome.wustl.edu 37 6 112496650 112496650 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 112496650 112496650 C T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1222 p.E408K 0.008 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 23 0 0.00 40 4 9.09 LHFPL5 0 genome.wustl.edu 37 6 35782462 35782462 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 35782462 35782462 C G SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.552 p.L184 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 68 0 0.00 71 5 6.58 LINC00617 0 genome.wustl.edu 37 14 96389122 96389122 + RNA SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 96389122 96389122 G T SNP LINC00617 ENST00000503525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00617 HGNC ENSG00000250366 54 0 0.00 75 4 5.06 LINC00905 0 genome.wustl.edu 37 19 16146762 16146762 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 16146762 16146762 G C SNP LINC00905 ENST00000588117 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00905 HGNC ENSG00000167459 tier1 - - 26 0 0.00 35 6 14.63 LOC100289283 0 genome.wustl.edu 37 16 29821856 29821856 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 29821856 29821856 C T SNP LOC100289283 ENST00000569981 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 tier1 - - 58 0 0.00 75 13 14.77 LOC100506060 0 genome.wustl.edu 37 16 70267382 70267382 + RNA SNP T T A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 70267382 70267382 T A SNP LOC100506060 ENST00000568855 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 134 0 0.00 176 55 23.81 LOC100653515 0 genome.wustl.edu 37 17 76888114 76888114 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 76888114 76888114 G A SNP LOC100653515 ENST00000322630 human ensembl 74_37 -1 putative nonsense c.472 p.R158* 0.000 NULL NULL - no_errors DDC8 Uniprot_gn ENSG00000178404 tier1 - - 26 0 0.00 32 6 15.79 LOC202181 0 genome.wustl.edu 37 5 177099140 177099140 + RNA SNP T T A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 177099140 177099140 T A SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 tier1 - - 8 0 0.00 4 6 60.00 LOC285556 0 genome.wustl.edu 37 4 100574460 100574460 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 100574460 100574460 C T SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.1346 p.S449N 0.385 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 47 0 0.00 52 7 11.86 LOC441666 0 genome.wustl.edu 37 10 42832735 42832735 + RNA SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 42832735 42832735 C G SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 37 0 0.00 32 8 20.00 LOC729224 0 genome.wustl.edu 37 2 202979699 202979699 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 202979699 202979699 G C SNP LOC729224 ENST00000409819 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors AC079354.3 Clone_based_vega_gene ENSG00000222035 tier1 - - 54 0 0.00 72 7 8.86 LRP1B 0 genome.wustl.edu 37 2 141143523 141143523 + Silent SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 141143523 141143523 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10470 p.P3490 0.994 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 36 0 0.00 34 12 26.09 LRRTM4 0 genome.wustl.edu 37 2 77746526 77746526 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 77746526 77746526 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.472 p.R158W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 44 0 0.00 39 4 9.30 LRTM2 0 genome.wustl.edu 37 12 1936680 1936680 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 1936680 1936680 G C SNP LRTM2 ENST00000544489 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 50 0 0.00 46 6 11.32 LSM14B 0 genome.wustl.edu 37 20 60701373 60701373 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 60701373 60701373 C T SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known missense c.305 p.S102F 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 tier1 - - 49 0 0.00 57 8 12.31 LZTS2 0 genome.wustl.edu 37 10 102762382 102762382 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 102762382 102762382 G C SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known silent c.87 p.V29 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 tier1 - - 65 0 0.00 61 18 22.50 MAD2L2 0 genome.wustl.edu 37 1 11735184 11735184 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 11735184 11735184 G A SNP MAD2L2 ENST00000376669 human ensembl 74_37 -1 known silent c.588 p.D196 1.000 superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L2 HGNC ENSG00000116670 37 0 0.00 32 3 8.57 MAP3K11 0 genome.wustl.edu 37 11 65373507 65373507 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 65373507 65373507 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.1649 p.R550Q 0.014 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 38 0 0.00 53 10 15.87 MAP3K6 0 genome.wustl.edu 37 1 27685071 27685071 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 27685071 27685071 G A SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.2615 p.P872L 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,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 69 0 0.00 72 4 5.26 MDN1 0 genome.wustl.edu 37 6 90402667 90402667 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 90402667 90402667 G C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.10082 p.S3361C 0.921 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 - - 41 0 0.00 26 5 16.13 ME1 0 genome.wustl.edu 37 6 83947511 83947511 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 83947511 83947511 C G SNP ME1 ENST00000369705 human ensembl 74_37 -1 known missense c.951 p.L317F 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 tier1 - - 37 0 0.00 63 7 10.00 MEA1 0 genome.wustl.edu 37 6 42980987 42980987 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 42980987 42980987 C G SNP MEA1 ENST00000244711 human ensembl 74_37 -1 known missense c.169 p.E57Q 1.000 pfam_MEA1 pfam_MEA1 - no_errors MEA1 HGNC ENSG00000124733 tier1 - - 66 0 0.00 76 12 13.64 MED13L 0 genome.wustl.edu 37 12 116434866 116434866 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 116434866 116434866 G C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.2739 p.F913L 0.969 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 39 0 0.00 55 4 6.78 MIA3 0 genome.wustl.edu 37 1 222826624 222826624 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 222826624 222826624 G C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.4264 p.E1422Q 0.155 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 41 0 0.00 72 6 7.69 MRAS 0 genome.wustl.edu 37 3 138121105 138121105 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 138121105 138121105 C T SNP MRAS ENST00000289104 human ensembl 74_37 +1 known silent c.621 p.I207 0.741 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 tier1 - - 41 0 0.00 54 14 20.59 MROH9 0 genome.wustl.edu 37 1 170959080 170959080 + Silent SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 170959080 170959080 T C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known silent c.964 p.L322 0.006 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 55 0 0.00 97 7 6.73 MSH3 0 genome.wustl.edu 37 5 79950579 79950579 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 79950579 79950579 C G SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known silent c.33 p.L11 0.000 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 30 0 0.00 26 3 10.34 MTMR8 0 genome.wustl.edu 37 X 63445264 63445264 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 63445264 63445264 C A SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.1392 p.L464F 0.957 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 tier1 - - 16 0 0.00 21 11 34.38 MUC16 0 genome.wustl.edu 37 19 9084625 9084625 + Nonsense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 9084625 9084625 G C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.7190 p.S2397* 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 54 0 0.00 84 12 12.50 MYBL1 0 genome.wustl.edu 37 8 67485683 67485683 + Nonsense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 67485683 67485683 G T SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known nonsense c.1529 p.S510* 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 tier1 - - 61 0 0.00 87 5 5.43 MYH13 0 genome.wustl.edu 37 17 10206759 10206759 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 10206759 10206759 C G SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.5523 p.L1841 0.819 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 65 0 0.00 98 10 9.26 MYH14 0 genome.wustl.edu 37 19 50720965 50720965 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 50720965 50720965 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.499 p.R167C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 35 0 0.00 41 4 8.89 MYH4 0 genome.wustl.edu 37 17 10354724 10354724 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 10354724 10354724 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3784 p.E1262K 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 58 0 0.00 75 10 11.63 MYO9A 0 genome.wustl.edu 37 15 72244100 72244100 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 72244100 72244100 C G SNP MYO9A ENST00000566885 human ensembl 74_37 -1 putative missense c.1105 p.D369H 0.009 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,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 MYO9A HGNC ENSG00000066933 tier1 - - 61 0 0.00 89 10 10.10 MYT1L 0 genome.wustl.edu 37 2 1795777 1795777 + Missense_Mutation SNP A A T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 1795777 1795777 A T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3423 p.D1141E 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 23 0 0.00 15 5 25.00 NAV3 0 genome.wustl.edu 37 12 78569186 78569186 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 78569186 78569186 G C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5082 p.K1694N 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 96 0 0.00 107 10 8.55 NDUFB7 0 genome.wustl.edu 37 19 14677011 14677011 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 14677011 14677011 C T SNP NDUFB7 ENST00000215565 human ensembl 74_37 -1 known silent c.348 p.E116 0.002 NULL pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 tier1 - - 53 0 0.00 70 6 7.89 NIPBL 0 genome.wustl.edu 37 5 36975895 36975895 + Missense_Mutation SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 36975895 36975895 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.886 p.I296V 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 28 0 0.00 42 7 14.29 NOL10 0 genome.wustl.edu 37 2 10799328 10799328 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 10799328 10799328 C G SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.726 p.L242F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 tier1 - - 41 0 0.00 60 8 11.76 NOTCH1 0 genome.wustl.edu 37 9 139404376 139404377 + Frame_Shift_Ins INS - - A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 139404376 139404377 - A INS NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_ins c.2778_2777 p.N927fs 0.907:0.900 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,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,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 58 0 0.00 53 16 23.19 NOTCH2 0 genome.wustl.edu 37 1 120484162 120484162 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 120484162 120484162 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.2968 p.E990K 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_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,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_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 68 0 0.00 111 10 8.26 NPAS3 0 genome.wustl.edu 37 14 34029384 34029384 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 34029384 34029384 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 50 0 0.00 80 13 13.98 NRCAM 0 genome.wustl.edu 37 7 107789071 107789071 + RNA SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 107789071 107789071 C G SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.641 - - - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 46 0 0.00 48 9 15.79 NTRK3 0 genome.wustl.edu 37 15 88474392 88474392 + RNA SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 88474392 88474392 C G SNP NTRK3 ENST00000559680 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 86 0 0.00 133 11 7.64 OR4C15 0 genome.wustl.edu 37 11 55321806 55321806 + Silent SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 55321806 55321806 A G SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.24 p.A8 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 36 0 0.00 60 9 13.04 OR4C15 0 genome.wustl.edu 37 11 55321807 55321807 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 55321807 55321807 C A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.25 p.L9I 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 37 0 0.00 60 9 13.04 OR4C5 0 genome.wustl.edu 37 11 48387907 48387907 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 48387907 48387907 G A SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known silent c.111 p.G37 0.989 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 - - 40 0 0.00 70 7 9.09 OR5AK2 0 genome.wustl.edu 37 11 56756448 56756448 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 56756448 56756448 G A SNP OR5AK2 ENST00000326855 human ensembl 74_37 +1 known silent c.60 p.Q20 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AK2 HGNC ENSG00000181273 tier1 - - 100 0 0.00 147 14 8.70 OSBPL6 0 genome.wustl.edu 37 2 179197727 179197727 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 179197727 179197727 G C SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.553 p.E185Q 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 36 0 0.00 45 3 6.25 OTP 0 genome.wustl.edu 37 5 76932724 76932724 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 76932724 76932724 G A SNP OTP ENST00000306422 human ensembl 74_37 -1 known silent c.369 p.F123 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 tier1 - - 98 0 0.00 101 7 6.48 OTUD1 0 genome.wustl.edu 37 10 23729743 23729743 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 23729743 23729743 C G SNP OTUD1 ENST00000376495 human ensembl 74_37 +1 known missense c.1357 p.Q453E 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD1 HGNC ENSG00000165312 30 0 0.00 36 3 7.50 OXA1L 0 genome.wustl.edu 37 14 23235862 23235862 + Silent SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 23235862 23235862 T C SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known silent c.132 p.G44 0.000 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 tier1 - - 35 0 0.00 54 8 12.90 P2RY4 0 genome.wustl.edu 37 X 69478523 69478523 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 69478523 69478523 G A SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.952 p.R318C 0.023 prints_P2Y4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 tier1 - - 40 0 0.00 44 22 33.33 PAPD5 0 genome.wustl.edu 37 16 50261847 50261847 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 50261847 50261847 C T SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known missense c.1853 p.S618F 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 54 0 0.00 87 27 23.68 PCCA 0 genome.wustl.edu 37 13 100861714 100861714 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 100861714 100861714 C G SNP PCCA ENST00000376285 human ensembl 74_37 +1 known silent c.597 p.V199 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 tier1 - - 28 0 0.00 48 4 7.69 PCDHA2 0 genome.wustl.edu 37 5 140174599 140174599 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 140174599 140174599 C G SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.50 p.S17W 0.968 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 39 0 0.00 54 8 12.90 PCDHB1 0 genome.wustl.edu 37 5 140431453 140431453 + Missense_Mutation SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 140431453 140431453 T C SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.398 p.F133S 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 32 0 0.00 25 6 19.35 PCDHB6 0 genome.wustl.edu 37 5 140530592 140530592 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 140530592 140530592 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.754 p.E252K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 34 0 0.00 37 9 19.57 PCED1A 0 genome.wustl.edu 37 20 2818908 2818908 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 2818908 2818908 C A SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.811 p.V271L 0.991 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 tier1 - - 44 0 0.00 74 8 9.76 PCIF1 0 genome.wustl.edu 37 20 44567713 44567713 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 44567713 44567713 G C SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known missense c.75 p.Q25H 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 tier1 - - 48 0 0.00 67 8 10.67 PDLIM3 0 genome.wustl.edu 37 4 186456520 186456520 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 186456520 186456520 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known silent c.69 p.F23 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 46 0 0.00 50 7 12.28 PDS5B 0 genome.wustl.edu 37 13 33330027 33330027 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 33330027 33330027 C G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2989 p.H997D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 36 0 0.00 26 7 21.21 PDXK 0 genome.wustl.edu 37 21 45152385 45152385 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 21 45152385 45152385 G C SNP PDXK ENST00000327574 human ensembl 74_37 +1 putative missense c.127 p.E43Q 0.060 NULL NULL - no_errors PDXK HGNC ENSG00000160209 tier1 - - 67 0 0.00 53 11 17.19 PEAK1 0 genome.wustl.edu 37 15 77407012 77407012 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 77407012 77407012 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4727 p.R1576H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 39 0 0.00 54 11 16.92 PHLDB3 0 genome.wustl.edu 37 19 43983562 43983562 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 43983562 43983562 C G SNP PHLDB3 ENST00000292140 human ensembl 74_37 -1 known missense c.1669 p.D557H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 tier1 - - 59 0 0.00 77 10 11.49 PIKFYVE 0 genome.wustl.edu 37 2 209182630 209182630 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 209182630 209182630 G T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.2047 p.G683C 1.000 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 60 0 0.00 76 4 5.00 PLBD1 0 genome.wustl.edu 37 12 14664608 14664608 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 14664608 14664608 G A SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known silent c.882 p.S294 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 35 0 0.00 61 8 11.59 PLCG1 0 genome.wustl.edu 37 20 39788339 39788339 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 39788339 39788339 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.311 p.S104L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 43 0 0.00 73 4 5.19 PLEC 0 genome.wustl.edu 37 8 144996792 144996792 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 144996792 144996792 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.7716 p.E2572 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 21 0 0.00 51 13 20.31 PLEKHA6 0 genome.wustl.edu 37 1 204228389 204228389 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 204228389 204228389 C T SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.1004 p.R335Q 0.863 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 - - 25 0 0.00 33 5 13.16 PLEKHM2 0 genome.wustl.edu 37 1 16043265 16043265 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 16043265 16043265 C G SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.231 p.I77M 0.995 pfam_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 32 0 0.00 41 4 8.70 PLXNA2 0 genome.wustl.edu 37 1 208390941 208390941 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 208390941 208390941 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.327 p.L109 0.965 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 57 0 0.00 97 11 10.19 PLXND1 0 genome.wustl.edu 37 3 129324787 129324787 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 129324787 129324787 G T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.696 p.F232L 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 22 0 0.00 18 3 14.29 PNPLA6 0 genome.wustl.edu 37 19 7600729 7600729 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 7600729 7600729 G C SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.82 p.E28Q 0.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 56 0 0.00 57 4 6.56 PODN 0 genome.wustl.edu 37 1 53544495 53544495 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 53544495 53544495 C T SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.1457 p.S486L 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 tier1 - - 54 0 0.00 63 7 10.00 POLG 0 genome.wustl.edu 37 15 89876828 89876830 + In_Frame_Del DEL TGC TGC - TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 89876828 89876830 TGC - DEL POLG ENST00000268124 human ensembl 74_37 -1 known in_frame_del c.158_156 p.Q55in_frame_del 0.005:0.011:0.014 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 23 0 0.00 31 4 11.43 POLR3A 0 genome.wustl.edu 37 10 79784318 79784318 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 79784318 79784318 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.634 p.G212R 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 37 0 0.00 40 10 20.00 PPIP5K2 0 genome.wustl.edu 37 5 102488444 102488444 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 102488444 102488444 C A SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.1121 p.S374Y 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 tier1 - - 51 0 0.00 50 10 16.67 PRDM15 0 genome.wustl.edu 37 21 43221625 43221625 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 21 43221625 43221625 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.4299 p.P1433 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 67 0 0.00 67 5 6.94 PROSER1 0 genome.wustl.edu 37 13 39591640 39591640 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 13 39591640 39591640 G C SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.772 p.Q258E 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 42 0 0.00 50 5 9.09 PRR26 0 genome.wustl.edu 37 10 697123 697123 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 697123 697123 G A SNP PRR26 ENST00000441152 human ensembl 74_37 +1 known missense c.616 p.V206I 0.001 NULL NULL - no_errors PRR26 HGNC ENSG00000180525 22 0 0.00 25 3 10.71 PSMD11 0 genome.wustl.edu 37 17 30806325 30806325 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 30806325 30806325 G T SNP PSMD11 ENST00000261712 human ensembl 74_37 +1 known missense c.969 p.L323F 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 tier1 - - 44 0 0.00 73 4 5.19 PSMG3 0 genome.wustl.edu 37 7 1608892 1608892 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 1608892 1608892 G A SNP PSMG3 ENST00000252329 human ensembl 74_37 -1 known silent c.84 p.F28 1.000 NULL pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC ENSG00000157778 19 0 0.00 55 8 12.70 PTBP1 0 genome.wustl.edu 37 19 806462 806462 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 806462 806462 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.382 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 - - 52 0 0.00 59 7 10.61 PTCD3 0 genome.wustl.edu 37 2 86361473 86361473 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 86361473 86361473 C T SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known silent c.1602 p.L534 0.999 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 tier1 - - 52 0 0.00 68 4 5.56 PTPRT 0 genome.wustl.edu 37 20 41306583 41306583 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 41306583 41306583 C G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1076 p.R359P 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 45 0 0.00 83 6 6.74 RECK 0 genome.wustl.edu 37 9 36112352 36112352 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 36112352 36112352 G A SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.1939 p.G647R 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 tier1 - - 65 0 0.00 62 24 27.91 REG1A 0 genome.wustl.edu 37 2 79349978 79349978 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 79349978 79349978 G A SNP REG1A ENST00000233735 human ensembl 74_37 +1 known nonsense c.333 p.W111* 0.962 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 tier1 - - 31 0 0.00 41 5 10.87 RFPL2 0 genome.wustl.edu 37 22 32587193 32587193 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 32587193 32587193 G C SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.703 p.R235G 0.059 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 tier1 - - 109 0 0.00 174 12 6.45 RFX2 0 genome.wustl.edu 37 19 6190810 6190811 + RNA DEL AT AT - TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 6190810 6190811 AT - DEL RFX2 ENST00000587700 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RFX2 HGNC ENSG00000087903 tier1 8 0 0.00 8 7 46.67 RGL3 0 genome.wustl.edu 37 19 11510589 11510589 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 11510589 11510589 C G SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1706 p.R569T 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 tier1 - - 27 0 0.00 33 6 15.38 RILP 0 genome.wustl.edu 37 17 1551189 1551189 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 1551189 1551189 C T SNP RILP ENST00000301336 human ensembl 74_37 -1 known missense c.884 p.R295Q 0.966 pfam_RILP pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC ENSG00000167705 tier1 - - 31 0 0.00 38 4 9.52 RNF41 0 genome.wustl.edu 37 12 56600447 56600447 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 56600447 56600447 C T SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known silent c.738 p.L246 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 49 0 0.00 74 4 5.13 RPE65 0 genome.wustl.edu 37 1 68910473 68910473 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 68910473 68910473 C A SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.339 p.K113N 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 22 0 0.00 31 4 11.43 RRP15 0 genome.wustl.edu 37 1 218480911 218480911 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 218480911 218480911 G A SNP RRP15 ENST00000366932 human ensembl 74_37 +1 known silent c.642 p.L214 0.295 pfam_DUF1665 pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 tier1 - - 46 0 0.00 90 11 10.89 RTKN 0 genome.wustl.edu 37 2 74657797 74657797 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 74657797 74657797 C G SNP RTKN ENST00000272430 human ensembl 74_37 -1 known missense c.319 p.D107H 0.996 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 tier1 - - 60 0 0.00 72 7 8.86 RUSC2 0 genome.wustl.edu 37 9 35547582 35547582 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 35547582 35547582 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.1064 p.S355F 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 24 0 0.00 31 13 29.55 RYR2 0 genome.wustl.edu 37 1 237895425 237895425 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 237895425 237895425 G C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11009 p.S3670T 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 - - 36 0 0.00 55 9 14.06 RYR3 0 genome.wustl.edu 37 15 34078107 34078107 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 34078107 34078107 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.9513 p.L3171 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 33 0 0.00 43 7 14.00 SAMD4A 0 genome.wustl.edu 37 14 55203862 55203862 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 55203862 55203862 G C SNP SAMD4A ENST00000392067 human ensembl 74_37 +1 known missense c.836 p.R279T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 tier1 - - 55 0 0.00 88 11 11.11 SCAF8 0 genome.wustl.edu 37 6 155153402 155153402 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 155153402 155153402 C A SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.2887 p.L963M 0.996 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 33 0 0.00 58 4 6.45 SCG2 0 genome.wustl.edu 37 2 224463090 224463090 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 224463090 224463090 G A SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.911 p.S304L 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 41 0 0.00 51 9 15.00 SCML2 0 genome.wustl.edu 37 X 18275038 18275038 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 18275038 18275038 C G SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known missense c.1386 p.L462F 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 14 0 0.00 27 3 10.00 SEC61A1 0 genome.wustl.edu 37 3 127786785 127786785 + RNA SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 127786785 127786785 C T SNP SEC61A1 ENST00000498837 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 45 0 0.00 63 9 12.50 SEMA4G 0 genome.wustl.edu 37 10 102739898 102739898 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 102739898 102739898 G T SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known missense c.1148 p.R383L 0.995 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 27 0 0.00 35 2 5.41 SEMG2 0 genome.wustl.edu 37 20 43850642 43850642 + Silent SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 43850642 43850642 T C SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known silent c.369 p.F123 0.001 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 tier1 - - 40 0 0.00 50 12 19.35 SERPINA4 0 genome.wustl.edu 37 14 95033361 95033361 + Missense_Mutation SNP T T A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 95033361 95033361 T A SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.704 p.V235D 0.970 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 tier1 - - 77 0 0.00 116 13 10.08 SETBP1 0 genome.wustl.edu 37 18 42532279 42532279 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 18 42532279 42532279 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2974 p.H992Y 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 59 0 0.00 56 6 9.68 SETD2 0 genome.wustl.edu 37 3 47122509 47122509 + RNA SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 47122509 47122509 G T SNP SETD2 ENST00000492397 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 38 0 0.00 68 4 5.56 SETDB1 0 genome.wustl.edu 37 1 150923931 150923931 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 150923931 150923931 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.2304 p.K768 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 62 0 0.00 95 15 13.64 SIPA1L1 0 genome.wustl.edu 37 14 72055797 72055797 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 72055797 72055797 G C SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1208 p.G403A 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 50 0 0.00 95 11 10.19 SLC13A4 0 genome.wustl.edu 37 7 135386446 135386446 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 135386446 135386446 C G SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.693 p.K231N 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 179 0 0.00 181 30 14.15 SLC16A2 0 genome.wustl.edu 37 X 73749129 73749129 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 73749129 73749129 C G SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1474 p.L492V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 - - 34 0 0.00 55 5 8.33 SLC25A51 0 genome.wustl.edu 37 9 37888332 37888332 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 37888332 37888332 C T SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known silent c.216 p.L72 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 tier1 - - 68 0 0.00 78 32 29.09 SLC44A4 0 genome.wustl.edu 37 6 31833354 31833354 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 31833354 31833354 C G SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1607 p.C536S 0.999 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 39 0 0.00 36 5 11.90 SLC6A13 0 genome.wustl.edu 37 12 330676 330676 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 12 330676 330676 G T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.1552 p.L518M 0.995 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 61 0 0.00 64 4 5.88 SLC9A4 0 genome.wustl.edu 37 2 103141509 103141509 + Silent SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 103141509 103141509 C G SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.1845 p.L615 0.038 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 39 0 0.00 65 7 9.72 SLC9A5 0 genome.wustl.edu 37 16 67292260 67292260 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 67292260 67292260 G A SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.1536 p.L512 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 - - 36 0 0.00 62 10 13.89 SLCO2A1 0 genome.wustl.edu 37 3 133664007 133664007 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 133664007 133664007 C G SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known missense c.1393 p.E465Q 1.000 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 tier1 - - 41 0 0.00 49 8 14.04 SMG1 0 genome.wustl.edu 37 16 18823362 18823362 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 18823362 18823362 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.10712 p.S3571L 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 47 0 0.00 96 15 13.51 SMIM4 0 genome.wustl.edu 37 3 52613043 52613043 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 3 52613043 52613043 C T SNP SMIM4 ENST00000476842 human ensembl 74_37 +1 putative missense c.161 p.S54L 0.000 NULL NULL - no_errors SMIM4 HGNC ENSG00000168273 tier1 - - 31 0 0.00 26 4 13.33 SNAPIN 0 genome.wustl.edu 37 1 153631615 153631615 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 153631615 153631615 G C SNP SNAPIN ENST00000368685 human ensembl 74_37 +1 known missense c.145 p.E49Q 1.000 pirsf_Snapin pirsf_Snapin - no_errors SNAPIN HGNC ENSG00000143553 tier1 - - 51 0 0.00 78 10 11.36 SNHG12 0 genome.wustl.edu 37 1 28907438 28907438 + RNA SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 28907438 28907438 A G SNP SNHG12 ENST00000384342 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNHG12 HGNC ENSG00000197989 tier1 - - 47 0 0.00 52 6 10.34 SNORA72 0 genome.wustl.edu 37 8 99054836 99054837 + RNA INS - - AAAA TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 99054836 99054837 - AAAA INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 22 0 0.00 34 6 15.00 SOGA2 0 genome.wustl.edu 37 18 8813075 8813075 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 18 8813075 8813075 G C SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.2703 p.L901 0.998 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 16 0 0.00 25 2 7.41 SP100 0 genome.wustl.edu 37 2 231307706 231307706 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 231307706 231307706 C G SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.162 p.F54L 0.000 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 53 0 0.00 60 4 6.25 SPAG17 0 genome.wustl.edu 37 1 118596628 118596628 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 118596628 118596628 G C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.2811 p.L937 0.998 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 54 0 0.00 90 5 5.26 SPAG9 0 genome.wustl.edu 37 17 49197792 49197792 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 49197792 49197792 C G SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.226 p.E76Q 1.000 pfam_JNK/Rab-associated_protein-1_N pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 49 0 0.00 62 4 6.06 SPATA3 0 genome.wustl.edu 37 2 231865090 231865090 + Missense_Mutation SNP T T C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 231865090 231865090 T C SNP SPATA3 ENST00000424440 human ensembl 74_37 +1 known missense c.311 p.I104T 0.002 NULL NULL - no_errors SPATA3 HGNC ENSG00000173699 44 0 0.00 50 3 5.66 SRSF7 0 genome.wustl.edu 37 2 38973295 38973295 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 38973295 38973295 G C SNP SRSF7 ENST00000313117 human ensembl 74_37 -1 known missense c.653 p.P218R 1.000 NULL pfam_RRM_dom,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors SRSF7 HGNC ENSG00000115875 tier1 - - 46 0 0.00 49 7 12.50 STARD3NL 0 genome.wustl.edu 37 7 38259194 38259194 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 38259194 38259194 G C SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known missense c.582 p.E194D 1.000 pfam_MENTAL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 tier1 - - 73 0 0.00 120 19 13.67 STK31 0 genome.wustl.edu 37 7 23826213 23826213 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 23826213 23826213 C G SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.2361 p.D787E 0.955 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 tier1 - - 56 0 0.00 64 36 35.64 STX17 0 genome.wustl.edu 37 9 102713413 102713413 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 9 102713413 102713413 G A SNP STX17 ENST00000259400 human ensembl 74_37 +1 known silent c.261 p.L87 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 tier1 - - 39 0 0.00 59 14 19.18 SYNE1 0 genome.wustl.edu 37 6 152644662 152644662 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 152644662 152644662 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15868 p.E5290Q 0.990 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 27 0 0.00 38 6 13.64 SYNE2 0 genome.wustl.edu 37 14 64457753 64457753 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 64457753 64457753 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2566 p.E856K 0.998 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 29 0 0.00 40 9 18.37 SYNE2 0 genome.wustl.edu 37 14 64469753 64469753 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 64469753 64469753 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.4102 p.H1368Y 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 15 0 0.00 25 3 10.71 TAF4 0 genome.wustl.edu 37 20 60578929 60578929 + Silent SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 60578929 60578929 G T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known silent c.2229 p.I743 0.998 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 tier1 - - 53 0 0.00 63 4 5.97 TBC1D19 0 genome.wustl.edu 37 4 26744169 26744169 + Nonsense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 26744169 26744169 C T SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known nonsense c.1267 p.Q423* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 tier1 - - 53 0 0.00 50 12 19.35 TBC1D29 0 genome.wustl.edu 37 17 28887700 28887700 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 28887700 28887700 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.144 p.M48I 0.997 superfamily_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 - - 86 0 0.00 82 9 9.89 TBP 0 genome.wustl.edu 37 6 170871004 170871004 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 170871004 170871004 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.180 p.Q60 0.991 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 45 0 0.00 75 12 13.79 TCTE1 0 genome.wustl.edu 37 6 44250020 44250020 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 44250020 44250020 C G SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.1123 p.E375Q 0.999 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 tier1 - - 31 0 0.00 60 4 6.25 TDP1 0 genome.wustl.edu 37 14 90446926 90446926 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 90446926 90446926 C T SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known silent c.834 p.V278 1.000 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 tier1 - - 63 0 0.00 91 10 9.90 TEX2 0 genome.wustl.edu 37 17 62290620 62290620 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 62290620 62290620 C A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.958 p.A320S 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 22 0 0.00 33 3 8.11 TGFB3 0 genome.wustl.edu 37 14 76447096 76447096 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 14 76447096 76447096 G C SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.141 p.I47M 1.000 pirsf_TGF-beta,pfam_TGF-b_N pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 tier1 - - 70 0 0.00 100 19 15.97 TIAM1 0 genome.wustl.edu 37 21 32638328 32638328 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 21 32638328 32638328 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known nonsense c.961 p.Q321* 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 64 0 0.00 106 6 5.36 TMEM105 0 genome.wustl.edu 37 17 79288254 79288254 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 79288254 79288254 G C SNP TMEM105 ENST00000332900 human ensembl 74_37 -1 known silent c.9 p.L3 0.014 NULL NULL - no_errors TMEM105 HGNC ENSG00000185332 tier1 - - 51 0 0.00 73 14 16.09 TMEM173 0 genome.wustl.edu 37 5 138860385 138860385 + Silent SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 138860385 138860385 C A SNP TMEM173 ENST00000330794 human ensembl 74_37 -1 known silent c.510 p.L170 0.999 NULL NULL - no_errors TMEM173 HGNC ENSG00000184584 31 0 0.00 17 3 15.00 TMEM209 0 genome.wustl.edu 37 7 129832592 129832592 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 129832592 129832592 C G SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known missense c.645 p.L215F 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 - - 74 0 0.00 70 17 19.54 TMEM71 0 genome.wustl.edu 37 8 133759306 133759306 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 8 133759306 133759306 G C SNP TMEM71 ENST00000377901 human ensembl 74_37 -1 known silent c.369 p.L123 0.004 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 tier1 - - 67 0 0.00 78 9 10.34 TNFRSF1B 0 genome.wustl.edu 37 1 12251047 12251047 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 12251047 12251047 C T SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known missense c.212 p.S71L 0.068 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 tier1 - - 32 0 0.00 58 7 10.77 TNRC18 0 genome.wustl.edu 37 7 5396810 5396810 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 5396810 5396810 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4931 p.S1644L 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 50 0 0.00 94 12 11.32 TOM1L2 0 genome.wustl.edu 37 17 17788081 17788081 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 17788081 17788081 G A SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.368 p.A123V 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 46 0 0.00 63 4 5.97 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934574 - 38 0 0.00 38 14 26.92 TRIM22 0 genome.wustl.edu 37 11 5717813 5717813 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 5717813 5717813 G A SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known nonsense c.351 p.W117* 0.320 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 tier1 - - 15 0 0.00 15 4 21.05 TRIM7 0 genome.wustl.edu 37 5 180622300 180622300 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 5 180622300 180622300 C G SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.1402 p.E468Q 0.997 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 18 0 0.00 40 3 6.98 TRMT2A 0 genome.wustl.edu 37 22 20104018 20104018 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 22 20104018 20104018 C T SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known missense c.142 p.G48R 0.000 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 57 0 0.00 70 4 5.41 TSSC2 0 genome.wustl.edu 37 11 3424843 3424843 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 3424843 3424843 G C SNP TSSC2 ENST00000533775 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TSSC2 HGNC ENSG00000223756 tier1 - - 75 0 0.00 74 5 6.33 TTC21B 0 genome.wustl.edu 37 2 166788351 166788351 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 166788351 166788351 C G SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.811 p.E271Q 0.975 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 69 0 0.00 90 12 11.76 TTC30B 0 genome.wustl.edu 37 2 178417447 178417447 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 178417447 178417447 G A SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known silent c.45 p.T15 0.059 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 tier1 - - 53 0 0.00 39 12 23.53 TTN 0 genome.wustl.edu 37 2 179399355 179399355 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 179399355 179399355 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.94283 p.T31428K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_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 - - 79 0 0.00 82 9 9.89 TYR 0 genome.wustl.edu 37 11 88911211 88911211 + Silent SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 88911211 88911211 G C SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.90 p.L30 0.955 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 32 0 0.00 35 2 5.41 UBE3C 0 genome.wustl.edu 37 7 156963014 156963014 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 156963014 156963014 G T SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.212 p.S71I 1.000 pfscan_IQ_motif_EF-hand-BS pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 32 0 0.00 55 4 6.78 UNC5C 0 genome.wustl.edu 37 4 96222865 96222865 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 4 96222865 96222865 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.382 p.R128C 0.997 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 35 0 0.00 36 4 10.00 UPF1 0 genome.wustl.edu 37 19 18972827 18972827 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 18972827 18972827 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.2499 p.E833 0.998 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 tier1 - - 24 0 0.00 38 10 20.83 UPF1 0 genome.wustl.edu 37 19 18972858 18972858 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 18972858 18972858 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.2530 p.E844K 0.998 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 tier1 - - 23 0 0.00 44 7 13.73 USP35 0 genome.wustl.edu 37 11 77907300 77907300 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 77907300 77907300 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.9 p.K3 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 32 0 0.00 60 4 6.25 USP50 0 genome.wustl.edu 37 15 50792993 50792993 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 15 50792993 50792993 G A SNP USP50 ENST00000532404 human ensembl 74_37 -1 known silent c.978 p.F326 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 tier1 - - 34 0 0.00 61 5 7.58 VPS13D 0 genome.wustl.edu 37 1 12304375 12304375 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 12304375 12304375 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.248 p.S83F 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 27 0 0.00 50 12 19.35 WDFY4 0 genome.wustl.edu 37 10 50186394 50186394 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 50186394 50186394 G A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.9332 p.R3111Q 0.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 35 0 0.00 23 4 14.81 WDR64 0 genome.wustl.edu 37 1 241943353 241943353 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 1 241943353 241943353 C T SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2554 p.H852Y 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 tier1 - - 38 0 0.00 59 5 7.81 WISP2 0 genome.wustl.edu 37 20 43353384 43353384 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 43353384 43353384 G C SNP WISP2 ENST00000190983 human ensembl 74_37 +1 known missense c.283 p.E95Q 0.239 NULL pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 tier1 - - 73 0 0.00 120 13 9.77 XIRP2 0 genome.wustl.edu 37 2 168101829 168101829 + Silent SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 2 168101829 168101829 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.3927 p.V1309 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 62 0 0.00 61 9 12.86 XIST 0 genome.wustl.edu 37 X 73065478 73065478 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 73065478 73065478 G C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 27 0 0.00 43 5 10.42 YAP1 0 genome.wustl.edu 37 11 102094417 102094417 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 102094417 102094417 C G SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known missense c.1097 p.S366C 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 tier1 - - 57 0 0.00 77 16 17.20 YWHAB 0 genome.wustl.edu 37 20 43533668 43533668 + Missense_Mutation SNP A A G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 20 43533668 43533668 A G SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known missense c.484 p.M162V 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAB HGNC ENSG00000166913 tier1 - - 26 0 0.00 31 21 40.38 ZMYM3 0 genome.wustl.edu 37 X 70471431 70471431 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 X 70471431 70471431 C T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.688 p.A230T 0.881 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 18 0 0.00 20 20 50.00 ZNF143 0 genome.wustl.edu 37 11 9522726 9522728 + In_Frame_Del DEL AGG AGG - TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 11 9522726 9522728 AGG - DEL ZNF143 ENST00000396602 human ensembl 74_37 +1 known in_frame_del c.1056_1058 p.G353in_frame_del 0.999:1.000:1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 tier1 34 0 0.00 68 9 11.69 ZNF213 0 genome.wustl.edu 37 16 3190882 3190882 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 16 3190882 3190882 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.914 p.R305Q 0.875 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 tier1 - - 10 0 0.00 15 5 23.81 ZNF311 0 genome.wustl.edu 37 6 28963076 28963076 + Nonsense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 6 28963076 28963076 G C SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known nonsense c.1703 p.S568* 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 tier1 - - 32 0 0.00 58 11 15.94 ZNF438 0 genome.wustl.edu 37 10 31138696 31138696 + Missense_Mutation SNP C C G TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 31138696 31138696 C G SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.638 p.S213T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 tier1 - - 85 0 0.00 88 8 8.33 ZNF518A 0 genome.wustl.edu 37 10 97918367 97918367 + RNA SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 10 97918367 97918367 G C SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 19 0 0.00 38 8 17.39 ZNF585B 0 genome.wustl.edu 37 19 37680968 37680968 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 37680968 37680968 G C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.157 p.R53G 0.882 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 58 0 0.00 112 6 5.04 ZNF700 0 genome.wustl.edu 37 19 12059541 12059541 + Silent SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 19 12059541 12059541 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.702 p.F234 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 tier1 - - 39 0 0.00 66 5 7.04 ZNF804B 0 genome.wustl.edu 37 7 88963860 88963860 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d490dc67-08e6-4d8e-b641-c405b20d86e1 98880f6a-bdae-4313-8eff-525d22ab97a5 7 88963860 88963860 G C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1564 p.D522H 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 38 0 0.00 27 4 12.90