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 AATF 0 genome.wustl.edu 37 17 35310466 35310466 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 35310466 35310466 C T SNP AATF ENST00000225402 human ensembl 74_37 +1 known silent c.564 p.D188 0.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 39 0 0.00 73 4 5.19 ABCB9 0 genome.wustl.edu 37 12 123424682 123424682 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 123424682 123424682 G A SNP ABCB9 ENST00000442028 human ensembl 74_37 -1 known silent c.1719 p.Y573 0.965 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 tier1 - - 24 0 0.00 41 12 22.64 ADRA2C 0 genome.wustl.edu 37 4 3768788 3768788 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 3768788 3768788 C T SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known missense c.455 p.S152L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 tier1 - - 29 0 0.00 68 11 13.92 AHSA1 0 genome.wustl.edu 37 14 77935532 77935532 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 77935532 77935532 G T SNP AHSA1 ENST00000216479 human ensembl 74_37 +1 known missense c.957 p.W319C 1.000 pfam_Activator_of_Hsp90_ATPase pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 tier1 - - 37 0 0.00 41 4 8.89 AKR1B10 0 genome.wustl.edu 37 7 134225941 134225941 + RNA SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 134225941 134225941 C G SNP AKR1B10 ENST00000496435 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AKR1B10 HGNC ENSG00000198074 tier1 - - 15 0 0.00 21 8 27.59 AMD1 0 genome.wustl.edu 37 6 111208746 111208746 + Nonsense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 111208746 111208746 C G SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known nonsense c.149 p.S50* 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 tier1 - - 50 0 0.00 47 8 14.55 ANKRD12 0 genome.wustl.edu 37 18 9279577 9279577 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 18 9279577 9279577 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.5938 p.R1980C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 52 0 0.00 79 16 16.84 ANKRD12 0 genome.wustl.edu 37 18 9281049 9281049 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 18 9281049 9281049 C A SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.6114 p.I2038 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 58 0 0.00 95 19 16.67 ANKRD17 0 genome.wustl.edu 37 4 73942757 73942757 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 73942757 73942757 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.7652 p.A2551V 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 tier1 - - 32 0 0.00 41 8 16.33 ANKRD52 0 genome.wustl.edu 37 12 56638565 56638565 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 56638565 56638565 C T SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.2593 p.A865T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 23 0 0.00 22 2 8.33 ANO8 0 genome.wustl.edu 37 19 17441288 17441288 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 17441288 17441288 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.1019 p.T340M 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 - - 25 0 0.00 42 9 17.65 ARCN1 0 genome.wustl.edu 37 11 118463457 118463457 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 118463457 118463457 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.1018 p.A340T 0.971 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 25 0 0.00 53 4 7.02 ARHGAP30 0 genome.wustl.edu 37 1 161022154 161022154 + Splice_Site SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 161022154 161022154 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known splice_site c.941-1 e9-1 1.000 - - - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 22 0 0.00 34 7 17.07 ARHGAP39 0 genome.wustl.edu 37 8 145772875 145772875 + Frame_Shift_Del DEL C C - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 145772875 145772875 C - DEL ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known frame_shift_del c.1595 p.S532fs 0.004 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 tier1 28 0 0.00 62 10 13.89 ARR3 0 genome.wustl.edu 37 X 69496298 69496298 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d X 69496298 69496298 C T SNP ARR3 ENST00000307959 human ensembl 74_37 +1 known missense c.361 p.P121S 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 16 0 0.00 34 4 10.53 ATM 0 genome.wustl.edu 37 11 108213982 108213982 + Missense_Mutation SNP G G C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 108213982 108213982 G C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8302 p.E2768Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 tier1 - - 55 0 0.00 112 12 9.68 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022859 99022859 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 99022859 99022859 C T SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known silent c.1443 p.K481 0.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 tier1 - - 45 0 0.00 66 14 17.50 ATP6AP1L 0 genome.wustl.edu 37 5 81679584 81679585 + RNA INS - - T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 81679584 81679585 - T INS ATP6AP1L ENST00000502523 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.002 - - - no_errors ATP6AP1L HGNC ENSG00000205464 tier1 8 0 0.00 11 3 21.43 BAI3 0 genome.wustl.edu 37 6 69723965 69723965 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 69723965 69723965 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1965 p.E655D 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 37 0 0.00 70 9 11.39 BAIAP3 0 genome.wustl.edu 37 16 1391337 1391337 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 16 1391337 1391337 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.683 p.S228L 0.981 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 19 0 0.00 26 2 7.14 BCL9L 0 genome.wustl.edu 37 11 118772250 118772250 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 118772250 118772250 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.2202 p.A734 0.002 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 23 0 0.00 35 10 22.22 C12orf56 0 genome.wustl.edu 37 12 64724796 64724796 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 64724796 64724796 G A SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known silent c.432 p.N144 0.948 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 tier1 - - 32 0 0.00 39 24 36.92 C15orf32 0 genome.wustl.edu 37 15 93015519 93015519 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 15 93015519 93015519 G A SNP C15orf32 ENST00000333334 human ensembl 74_37 +1 known silent c.141 p.A47 0.001 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 tier1 - - 34 0 0.00 45 14 23.73 C1QTNF6 0 genome.wustl.edu 37 22 37578336 37578336 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 22 37578336 37578336 G A SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known silent c.729 p.R243 0.996 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 tier1 - - 11 0 0.00 25 8 24.24 C1orf105 0 genome.wustl.edu 37 1 172425596 172425596 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 172425596 172425596 A C SNP C1orf105 ENST00000367727 human ensembl 74_37 +1 known missense c.240 p.Q80H 0.109 NULL NULL - no_errors C1orf105 HGNC ENSG00000180999 tier1 - - 42 0 0.00 43 7 14.00 C1orf115 0 genome.wustl.edu 37 1 220863885 220863885 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 220863885 220863885 G A SNP C1orf115 ENST00000294889 human ensembl 74_37 +1 known silent c.141 p.A47 0.000 NULL NULL - no_errors C1orf115 HGNC ENSG00000162817 tier1 - - 9 0 0.00 15 6 28.57 C1orf198 0 genome.wustl.edu 37 1 230979141 230979141 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 230979141 230979141 C T SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known missense c.886 p.D296N 0.132 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 tier1 - - 30 0 0.00 57 16 21.92 CADM2 0 genome.wustl.edu 37 3 85008694 85008694 + RNA SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 85008694 85008694 C T SNP CADM2 ENST00000485126 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CADM2 HGNC ENSG00000175161 tier1 - - 31 0 0.00 62 5 7.46 CARS 0 genome.wustl.edu 37 11 3022339 3022339 + RNA SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 3022339 3022339 C T SNP CARS ENST00000470221 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CARS HGNC ENSG00000110619 tier1 - - 45 0 0.00 47 4 7.84 CCDC144A 0 genome.wustl.edu 37 17 16630859 16630859 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 16630859 16630859 G T SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.1910 p.R637I 0.696 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 25 0 0.00 21 10 32.26 CCDC178 0 genome.wustl.edu 37 18 30795550 30795550 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 18 30795550 30795550 T A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2042 p.E681V 0.097 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 74 0 0.00 87 20 18.69 CDH12 0 genome.wustl.edu 37 5 22078696 22078696 + Silent SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 22078696 22078696 A C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.90 p.T30 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 rs147719621 - 55 0 0.00 64 24 27.27 CDH7 0 genome.wustl.edu 37 18 63548089 63548089 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 18 63548089 63548089 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.2317 p.A773T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 35 0 0.00 40 13 24.53 CELSR3 0 genome.wustl.edu 37 3 48689337 48689337 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 48689337 48689337 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.5896 p.Q1966K 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 39 0 0.00 52 3 5.45 CEP170 0 genome.wustl.edu 37 1 243290001 243290001 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 243290001 243290001 G T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4505 p.A1502D 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 tier1 - - 45 0 0.00 53 13 19.70 CEP350 0 genome.wustl.edu 37 1 179989371 179989371 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 179989371 179989371 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.2462 p.K821R 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 16 0 0.00 25 8 24.24 CHPF 0 genome.wustl.edu 37 2 220406468 220406468 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 220406468 220406468 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.758 p.R253H 1.000 NULL pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 tier1 - - 16 0 0.00 17 6 26.09 CLGN 0 genome.wustl.edu 37 4 141317266 141317266 + Silent SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 141317266 141317266 A G SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.978 p.N326 0.011 pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 tier1 - - 71 0 0.00 87 22 20.18 CNTNAP2 0 genome.wustl.edu 37 7 147926793 147926793 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 147926793 147926793 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.3303 p.D1101 0.016 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 26 0 0.00 31 3 8.82 COL20A1 0 genome.wustl.edu 37 20 61951542 61951542 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 20 61951542 61951542 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.3068 p.S1023L 0.988 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 14 0 0.00 25 4 13.79 COL5A2 0 genome.wustl.edu 37 2 189928716 189928716 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 189928716 189928716 A C SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.1760 p.L587R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 72 0 0.00 86 18 17.31 COL6A6 0 genome.wustl.edu 37 3 130368299 130368299 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 130368299 130368299 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.5626 p.A1876T 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 15 0 0.00 23 8 25.81 CRIM1 0 genome.wustl.edu 37 2 36744519 36744519 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 36744519 36744519 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.2040 p.H680 0.459 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 20 0 0.00 44 5 10.20 CRX 0 genome.wustl.edu 37 19 48342943 48342943 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 48342943 48342943 G A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.619 p.A207T 0.024 pfam_Otx_TF_C pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 tier1 - - 58 0 0.00 98 18 15.38 CSNK1D 0 genome.wustl.edu 37 17 80202455 80202455 + RNA SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 80202455 80202455 C A SNP CSNK1D ENST00000577578 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CSNK1D HGNC ENSG00000141551 tier1 - - 17 0 0.00 29 10 25.64 CTNNBL1 0 genome.wustl.edu 37 20 36500361 36500361 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 20 36500361 36500361 G A SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known silent c.1557 p.P519 0.116 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 tier1 rs146419783 - 21 0 0.00 22 7 24.14 CTNND1 0 genome.wustl.edu 37 11 57564430 57564430 + Frame_Shift_Del DEL A A - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 57564430 57564430 A - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.922 p.T308fs 0.989 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 30 0 0.00 60 9 13.04 CUL4A 0 genome.wustl.edu 37 13 113898809 113898809 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 113898809 113898809 C A SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known silent c.1314 p.I438 0.951 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 tier1 - - 33 0 0.00 40 6 13.04 CYFIP2 0 genome.wustl.edu 37 5 156721867 156721867 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 156721867 156721867 A C SNP CYFIP2 ENST00000347377 human ensembl 74_37 +1 known missense c.283 p.K95Q 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 50 0 0.00 84 7 7.69 CYP21A2 0 genome.wustl.edu 37 6 32008813 32008813 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 32008813 32008813 C T SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.1390 p.P464S 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 tier1 - - 43 0 0.00 61 11 15.28 DAGLB 0 genome.wustl.edu 37 7 6449537 6449537 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 6449537 6449537 G T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.1950 p.S650R 0.005 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 36 0 0.00 37 2 5.13 DBN1 0 genome.wustl.edu 37 5 176885030 176885030 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 176885030 176885030 T A SNP DBN1 ENST00000512501 human ensembl 74_37 -1 putative missense c.1001 p.D334V 0.010 NULL NULL - no_errors DBN1 HGNC ENSG00000113758 tier1 - - 29 0 0.00 46 20 30.30 DCUN1D5 0 genome.wustl.edu 37 11 102937291 102937291 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 102937291 102937291 T G SNP DCUN1D5 ENST00000260247 human ensembl 74_37 -1 known missense c.347 p.D116A 1.000 NULL pfam_PONY_dom - no_errors DCUN1D5 HGNC ENSG00000137692 tier1 - - 25 0 0.00 27 7 20.59 DFNB31 0 genome.wustl.edu 37 9 117166348 117166348 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 117166348 117166348 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.2246 p.T749M 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 20 0 0.00 15 2 11.76 DHRS3 0 genome.wustl.edu 37 1 12639425 12639425 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 12639425 12639425 T C SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known missense c.355 p.I119V 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 tier1 - - 45 0 0.00 60 17 22.08 DLC1 0 genome.wustl.edu 37 8 12957935 12957935 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 12957935 12957935 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1911 p.F637L 0.992 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 21 0 0.00 31 2 6.06 DNM1P47 0 genome.wustl.edu 37 15 102303909 102303909 + RNA SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 15 102303909 102303909 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 16 0 0.00 17 11 39.29 DNMBP 0 genome.wustl.edu 37 10 101716851 101716851 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 101716851 101716851 G A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.380 p.S127F 0.998 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 41 0 0.00 82 15 15.46 DOCK3 0 genome.wustl.edu 37 3 51101942 51101942 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 51101942 51101942 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.379 p.R127G 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 37 0 0.00 36 10 21.74 DOCK6 0 genome.wustl.edu 37 19 11333532 11333532 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 11333532 11333532 A G SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.3119 p.L1040P 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 31 0 0.00 34 4 10.53 DPF3 0 genome.wustl.edu 37 14 73190360 73190360 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 73190360 73190360 T G SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.671 p.K224T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 87 0 0.00 81 22 21.36 DSCAM 0 genome.wustl.edu 37 21 41423941 41423941 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 21 41423941 41423941 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5129 p.S1710L 0.992 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 35 0 0.00 54 8 12.70 DSCAML1 0 genome.wustl.edu 37 11 117376192 117376192 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 117376192 117376192 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.2219 p.R740Q 0.912 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 - - 14 0 0.00 16 7 30.43 DSPP 0 genome.wustl.edu 37 4 88535804 88535804 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 88535804 88535804 A G SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.1990 p.N664D 0.975 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 rs200105658 - 81 0 0.00 98 9 8.41 DSPP 0 genome.wustl.edu 37 4 88535806 88535806 + Missense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 88535806 88535806 C G SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.1992 p.N664K 0.986 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 81 0 0.00 97 9 8.49 DYNC1H1 0 genome.wustl.edu 37 14 102449489 102449489 + Silent SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 102449489 102449489 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.1095 p.R365 1.000 pfam_Dynein_heavy_dom-1 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 - - 39 0 0.00 66 4 5.71 DZIP3 0 genome.wustl.edu 37 3 108394694 108394694 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 108394694 108394694 G T SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2755 p.V919F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 tier1 - - 47 0 0.00 52 4 7.14 EIF2B5 0 genome.wustl.edu 37 3 183862446 183862446 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 183862446 183862446 G T SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.2057 p.S686I 0.956 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 tier1 - - 36 0 0.00 62 4 6.06 EIF4E2 0 genome.wustl.edu 37 2 233438618 233438618 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 233438618 233438618 G A SNP EIF4E2 ENST00000459714 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors EIF4E2 HGNC ENSG00000135930 tier1 - - 9 0 0.00 13 4 23.53 ENAM 0 genome.wustl.edu 37 4 71509221 71509221 + Nonsense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 71509221 71509221 C G SNP ENAM ENST00000396073 human ensembl 74_37 +1 known nonsense c.2078 p.S693* 0.057 NULL NULL - no_errors ENAM HGNC ENSG00000132464 47 0 0.00 53 3 5.26 ENSA 0 genome.wustl.edu 37 1 150600027 150600027 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 150600027 150600027 T A SNP ENSA ENST00000369009 human ensembl 74_37 -1 known missense c.99 p.E33D 1.000 NULL pfam_Endosulphine - no_errors ENSA HGNC ENSG00000143420 tier1 - - 62 0 0.00 73 4 5.19 ENSG00000225411 0 genome.wustl.edu 37 9 68400387 68400387 + RNA DEL C C - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 68400387 68400387 C - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.103 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 13 0 0.00 4 2 33.33 ENSG00000258851 0 genome.wustl.edu 37 14 104028196 104028197 + RNA INS - - A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 104028196 104028197 - A INS ENSG00000258851 ENST00000556332 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 tier1 22 0 0.00 30 3 9.09 ENTPD6 0 genome.wustl.edu 37 20 25198195 25198195 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 20 25198195 25198195 A G SNP ENTPD6 ENST00000376652 human ensembl 74_37 +1 known missense c.856 p.T286A 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 tier1 - - 42 0 0.00 117 20 14.60 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 30 0 0.00 33 20 37.74 ERBB4 0 genome.wustl.edu 37 2 212566891 212566891 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 212566891 212566891 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1290 p.S430R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 28 0 0.00 46 14 23.33 EVC2 0 genome.wustl.edu 37 4 5620242 5620242 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 5620242 5620242 A G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2669 p.V890A 0.966 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 23 0 0.00 43 13 23.21 FAM187B 0 genome.wustl.edu 37 19 35719355 35719355 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 35719355 35719355 C T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.229 p.E77K 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 tier1 - - 31 0 0.00 37 10 21.28 FAM47A 0 genome.wustl.edu 37 X 34148743 34148743 + Silent SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d X 34148743 34148743 A G SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.1653 p.R551 0.001 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 59 0 0.00 53 27 33.75 FAM65A 0 genome.wustl.edu 37 16 67575373 67575373 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 16 67575373 67575373 G A SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.902 p.G301D 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 tier1 - - 49 0 0.00 48 4 7.55 FBXO45 0 genome.wustl.edu 37 3 196304479 196304479 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 196304479 196304479 A C SNP FBXO45 ENST00000311630 human ensembl 74_37 +1 known missense c.474 p.E158D 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom - no_errors FBXO45 HGNC ENSG00000174013 tier1 - - 40 0 0.00 28 21 42.86 FGF4 0 genome.wustl.edu 37 11 69589540 69589540 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 69589540 69589540 C T SNP FGF4 ENST00000168712 human ensembl 74_37 -1 known missense c.313 p.G105S 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF4 HGNC ENSG00000075388 8 0 0.00 15 5 25.00 FGFBP1 0 genome.wustl.edu 37 4 15937951 15937951 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 15937951 15937951 G A SNP FGFBP1 ENST00000259988 human ensembl 74_37 -1 known missense c.305 p.S102L 0.000 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 tier1 - - 40 0 0.00 67 16 19.28 FLJ31813 0 genome.wustl.edu 37 10 51818911 51818911 + RNA SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 51818911 51818911 T C SNP FLJ31813 ENST00000456967 human ensembl 74_37 -1 known rna NULL NULL 0.091 - - - no_errors RP11-324H6.5 Clone_based_vega_gene ENSG00000235618 71 0 0.00 102 12 10.43 FMN2 0 genome.wustl.edu 37 1 240370345 240370345 + Frame_Shift_Del DEL C C - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 240370345 240370345 C - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.2233 p.Q745fs 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 21 0 0.00 33 9 21.43 FMN2 0 genome.wustl.edu 37 1 240371125 240371125 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 240371125 240371125 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3013 p.G1005R 0.997 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 45 0 0.00 43 16 26.23 FMO4 0 genome.wustl.edu 37 1 171293316 171293316 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 171293316 171293316 G A SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.361 p.E121K 0.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 tier1 rs142319717 - 33 0 0.00 65 17 20.73 FOXP1 0 genome.wustl.edu 37 3 71064750 71064750 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 71064750 71064750 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.924 p.C308 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 47 0 0.00 65 4 5.80 FRMD6 0 genome.wustl.edu 37 14 52188702 52188702 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 52188702 52188702 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1396 p.E466K 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 - - 29 0 0.00 48 8 14.29 FRS2 0 genome.wustl.edu 37 12 69967832 69967832 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 69967832 69967832 C A SNP FRS2 ENST00000299293 human ensembl 74_37 +1 known missense c.624 p.N208K 0.012 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 tier1 - - 40 0 0.00 38 4 9.52 FSTL1 0 genome.wustl.edu 37 3 120128473 120128473 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 120128473 120128473 C T SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.368 p.R123H 0.988 NULL pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 tier1 - - 27 0 0.00 30 8 21.05 FUCA1 0 genome.wustl.edu 37 1 24172588 24172588 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 24172588 24172588 G A SNP FUCA1 ENST00000374479 human ensembl 74_37 -1 known silent c.1236 p.S412 0.024 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 FUCA1 HGNC ENSG00000179163 tier1 - - 62 0 0.00 61 9 12.86 GALNT14 0 genome.wustl.edu 37 2 31133876 31133876 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 31133876 31133876 C A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.1550 p.C517F 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 28 0 0.00 36 10 21.74 GALNT16 0 genome.wustl.edu 37 14 69787458 69787458 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 69787458 69787458 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.208 p.E70K 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 tier1 - - 31 0 0.00 68 4 5.56 GALNT2 0 genome.wustl.edu 37 1 230203084 230203084 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 230203084 230203084 C T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known silent c.57 p.I19 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 11 0 0.00 7 3 30.00 GIGYF2 0 genome.wustl.edu 37 2 233651893 233651893 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 233651893 233651893 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.632 p.S211L 0.743 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 36 0 0.00 43 10 18.87 GNG4 0 genome.wustl.edu 37 1 235715520 235715520 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 235715520 235715520 C T SNP GNG4 ENST00000366597 human ensembl 74_37 -1 known silent c.117 p.A39 0.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG4 HGNC ENSG00000168243 tier1 - - 28 0 0.00 30 7 18.92 GON4L 0 genome.wustl.edu 37 1 155753818 155753818 + Silent SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 155753818 155753818 T C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.1851 p.V617 0.973 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 rs150709993 - 88 0 0.00 166 10 5.68 GON4L 0 genome.wustl.edu 37 1 155753823 155753823 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 155753823 155753823 A G SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.1846 p.C616R 0.972 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 87 0 0.00 167 10 5.65 GPR115 0 genome.wustl.edu 37 6 47682565 47682565 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 47682565 47682565 C A SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known silent c.1755 p.I585 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 58 0 0.00 72 4 5.26 GPR26 0 genome.wustl.edu 37 10 125426161 125426161 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 125426161 125426161 C T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.238 p.R80C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 10 0 0.00 13 3 18.75 GPT 0 genome.wustl.edu 37 8 145730717 145730717 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 145730717 145730717 C T SNP GPT ENST00000394955 human ensembl 74_37 +1 known missense c.584 p.T195M 0.011 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 tier1 - - 13 0 0.00 40 6 13.04 GRM5 0 genome.wustl.edu 37 11 88242134 88242134 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 88242134 88242134 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.3265 p.V1089I 0.229 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 38 0 0.00 37 11 22.92 GTF3C4 0 genome.wustl.edu 37 9 135553982 135553982 + Nonsense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 135553982 135553982 C T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known nonsense c.976 p.R326* 0.999 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 26 0 0.00 37 2 5.13 HAO2 0 genome.wustl.edu 37 1 119935261 119935261 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 119935261 119935261 A C SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.990 p.E330D 0.998 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 tier1 - - 33 0 0.00 54 12 18.18 HDAC10 0 genome.wustl.edu 37 22 50685358 50685358 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 22 50685358 50685358 G A SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.000 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 26 0 0.00 34 2 5.56 HHIPL1 0 genome.wustl.edu 37 14 100135215 100135215 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 100135215 100135215 G T SNP HHIPL1 ENST00000357223 human ensembl 74_37 +1 known missense c.1777 p.V593L 0.012 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH - no_errors HHIPL1 HGNC ENSG00000182218 tier1 - - 27 0 0.00 44 5 10.20 HIST1H2BK 0 genome.wustl.edu 37 6 27114372 27114372 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 27114372 27114372 T C SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known missense c.206 p.D69G 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 tier1 - - 151 0 0.00 135 24 14.91 HLA-DPB1 0 genome.wustl.edu 37 6 33048784 33048784 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 33048784 33048784 G A SNP HLA-DPB1 ENST00000478189 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-DPB1 HGNC ENSG00000223865 tier1 - - 33 0 0.00 49 13 20.97 HTRA4 0 genome.wustl.edu 37 8 38840061 38840061 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 38840061 38840061 T A SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.1159 p.S387T 0.997 superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 46 0 0.00 57 4 6.56 ICA1 0 genome.wustl.edu 37 7 8178478 8178478 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 8178478 8178478 T C SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known missense c.1139 p.E380G 0.986 pfam_Islet_autoAg_Ica1_C pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 tier1 - - 48 0 0.00 60 4 6.25 IFT172 0 genome.wustl.edu 37 2 27679395 27679395 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 27679395 27679395 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.3354 p.D1118 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 31 0 0.00 70 4 5.41 IGSF3 0 genome.wustl.edu 37 1 117120149 117120149 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 117120149 117120149 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3430 p.A1144T 0.753 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 64 0 0.00 58 11 15.94 IMPG2 0 genome.wustl.edu 37 3 100962490 100962490 + Silent SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 100962490 100962490 A C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.2685 p.T895 0.000 smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 33 0 0.00 46 14 23.33 INF2 0 genome.wustl.edu 37 14 105179229 105179229 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 105179229 105179229 A C SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2675 p.E892A 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 63 0 0.00 103 12 10.43 KCNH8 0 genome.wustl.edu 37 3 19479757 19479757 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 19479757 19479757 T G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1279 p.F427V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 49 0 0.00 51 13 20.31 KIAA1211 0 genome.wustl.edu 37 4 57164502 57164502 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 57164502 57164502 T G SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.107 p.V36G 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 53 0 0.00 53 12 18.46 KIAA1731 0 genome.wustl.edu 37 11 93431665 93431665 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 93431665 93431665 G T SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.3587 p.R1196I 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 23 0 0.00 21 11 34.38 KIDINS220 0 genome.wustl.edu 37 2 8871835 8871835 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 8871835 8871835 T C SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4331 p.D1444G 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 69 0 0.00 95 5 5.00 KRTAP10-7 0 genome.wustl.edu 37 21 46020630 46020630 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 21 46020630 46020630 T A SNP KRTAP10-7 ENST00000380102 human ensembl 74_37 +1 known missense c.109 p.C37S 0.976 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 tier1 - - 122 0 0.00 139 20 12.58 LARS 0 genome.wustl.edu 37 5 145493695 145493695 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 145493695 145493695 C T SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.3505 p.D1169N 1.000 NULL pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 tier1 - - 50 0 0.00 48 23 32.39 LCT 0 genome.wustl.edu 37 2 136566100 136566100 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 136566100 136566100 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.3817 p.E1273K 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 61 0 0.00 59 21 25.93 LINC00610 0 genome.wustl.edu 37 11 36293071 36293071 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 36293071 36293071 G A SNP LINC00610 ENST00000355500 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors LINC00610 HGNC ENSG00000196559 tier1 - - 35 0 0.00 26 11 29.73 LIPM 0 genome.wustl.edu 37 10 90562792 90562792 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 90562792 90562792 A G SNP LIPM ENST00000404743 human ensembl 74_37 +1 known missense c.139 p.M47V 1.000 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPM HGNC ENSG00000173239 55 0 0.00 75 4 5.06 LOC101927806 0 genome.wustl.edu 37 1 17198898 17198898 + RNA SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 17198898 17198898 C T SNP LOC101927806 ENST00000438002 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors U1 RFAM ENSG00000228549 tier1 - - 11 0 0.00 17 5 22.73 LOC101929329 0 genome.wustl.edu 37 20 9495608 9495608 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 20 9495608 9495608 G A SNP LOC101929329 ENST00000443469 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1119D9.4 Clone_based_vega_gene ENSG00000225988 tier1 - - 44 0 0.00 40 4 9.09 LOC220729 0 genome.wustl.edu 37 3 197349143 197349143 + RNA SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 197349143 197349143 T C SNP LOC220729 ENST00000414207 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 tier1 rs202141824 - 50 0 0.00 83 10 10.75 LOC285556 0 genome.wustl.edu 37 4 100572888 100572888 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 100572888 100572888 C T SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.2918 p.R973Q 0.979 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 12 0 0.00 32 9 21.95 LPA 0 genome.wustl.edu 37 6 160999556 160999556 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 160999556 160999556 T A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4470 p.Q1490H 0.154 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 49 0 0.00 50 3 5.66 LRIT1 0 genome.wustl.edu 37 10 85997164 85997164 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 85997164 85997164 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.401 p.R134Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 9 0 0.00 16 7 30.43 LRRC71 0 genome.wustl.edu 37 1 156902288 156902288 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 156902288 156902288 C T SNP LRRC71 ENST00000337428 human ensembl 74_37 +1 known missense c.1514 p.A505V 0.952 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 tier1 - - 41 0 0.00 43 11 20.37 LRRK2 0 genome.wustl.edu 37 12 40722188 40722188 + Missense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 40722188 40722188 C G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5683 p.R1895G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 48 0 0.00 34 2 5.56 LYSMD3 0 genome.wustl.edu 37 5 89815283 89815284 + Frame_Shift_Del DEL CT CT - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 89815283 89815284 CT - DEL LYSMD3 ENST00000315948 human ensembl 74_37 -1 known frame_shift_del c.274_273 p.R91fs 1.000:0.998 pfam_LysM_dom,smart_LysM_dom pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 tier1 25 0 0.00 39 12 23.53 MAML3 0 genome.wustl.edu 37 4 140811099 140811099 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 140811099 140811099 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1491 p.Q497 0.995 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 29 0 0.00 54 3 5.26 MAP1B 0 genome.wustl.edu 37 5 71482491 71482491 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 71482491 71482491 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.420 p.T140 0.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 43 0 0.00 47 4 7.84 MAPK9 0 genome.wustl.edu 37 5 179668157 179668157 + Splice_Site SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 179668157 179668157 T C SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known splice_site c.872-2 e8-2 1.000 - - - no_errors MAPK9 HGNC ENSG00000050748 22 0 0.00 37 2 5.13 MBD4 0 genome.wustl.edu 37 3 129155548 129155548 + Frame_Shift_Del DEL T T - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 129155548 129155548 T - DEL MBD4 ENST00000249910 human ensembl 74_37 -1 known frame_shift_del c.939 p.E314fs 0.059 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 tier1 33 0 0.00 34 4 10.53 MDFIC 0 genome.wustl.edu 37 7 114582414 114582414 + Missense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 114582414 114582414 C G SNP MDFIC ENST00000393486 human ensembl 74_37 +1 known missense c.179 p.S60C 0.988 NULL NULL - no_errors MDFIC HGNC ENSG00000135272 tier1 - - 52 0 0.00 65 16 19.75 MED12L 0 genome.wustl.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 150877786 150877786 C - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_del c.1005 p.G338fs 0.269 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 41 0 0.00 44 3 6.38 MED24 0 genome.wustl.edu 37 17 38189432 38189432 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 38189432 38189432 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.699 p.A233 0.001 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 tier1 - - 30 0 0.00 43 41 48.81 METTL9 0 genome.wustl.edu 37 16 21623996 21623996 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 16 21623996 21623996 G A SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.196 p.E66K 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 tier1 - - 49 0 0.00 44 16 26.67 MGAT4C 0 genome.wustl.edu 37 12 86373909 86373909 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 86373909 86373909 G T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.682 p.R228S 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 33 0 0.00 30 2 6.25 MGC21881 0 genome.wustl.edu 37 9 66553833 66553833 + RNA SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 66553833 66553833 A C SNP MGC21881 ENST00000305709 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 tier1 - - 195 0 0.00 265 19 6.69 MOG 0 genome.wustl.edu 37 6 29638954 29638954 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 29638954 29638954 C A SNP MOG ENST00000376917 human ensembl 74_37 +1 known missense c.736 p.P246T 1.000 pirsf_Myelin-oligodendrocyte_glycop pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 tier1 - - 44 0 0.00 67 23 25.56 MOSPD2 0 genome.wustl.edu 37 X 14933839 14933839 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d X 14933839 14933839 G T SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.1139 p.S380I 1.000 pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 50 0 0.00 61 4 6.15 MRPL4 0 genome.wustl.edu 37 19 10367465 10367465 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 10367465 10367465 C A SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known silent c.409 p.R137 0.998 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 tier1 - - 61 0 0.00 59 25 29.76 MRPS14 0 genome.wustl.edu 37 1 174983880 174983880 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 174983880 174983880 C A SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.312 p.W104C 1.000 pfam_Ribosomal_S14 pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 tier1 - - 36 0 0.00 69 9 11.54 MUC16 0 genome.wustl.edu 37 19 8961961 8961961 + Nonsense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 8961961 8961961 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.43416 p.C14472* 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 38 0 0.00 38 2 5.00 MYBPC1 0 genome.wustl.edu 37 12 102061599 102061599 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 102061599 102061599 C T SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.2446 p.R816C 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 32 0 0.00 31 3 8.82 MYCBP2 0 genome.wustl.edu 37 13 77738652 77738652 + Missense_Mutation SNP A A T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 77738652 77738652 A T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.6484 p.L2162I 0.997 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 59 0 0.00 69 5 6.76 MYOM3 0 genome.wustl.edu 37 1 24421447 24421447 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 24421447 24421447 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.827 p.S276L 0.622 pfam_Ig_I-set,pfscan_Ig-like_dom 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 MYOM3 HGNC ENSG00000142661 tier1 - - 35 0 0.00 48 11 18.64 MYPN 0 genome.wustl.edu 37 10 69882003 69882003 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 69882003 69882003 C T SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.808 p.R270W 0.988 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 20 0 0.00 48 3 5.88 NAIP 0 genome.wustl.edu 37 5 70308438 70308438 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 70308438 70308438 A G SNP NAIP ENST00000194097 human ensembl 74_37 -1 known missense c.305 p.L102P 0.708 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 tier1 - - 52 0 0.00 72 5 6.49 NALCN 0 genome.wustl.edu 37 13 101714386 101714386 + Silent SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 101714386 101714386 T A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.4689 p.I1563 0.853 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 34 0 0.00 43 9 17.31 NBEA 0 genome.wustl.edu 37 13 35751188 35751188 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 35751188 35751188 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4610 p.L1537P 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 57 0 0.00 77 19 19.39 NCBP1 0 genome.wustl.edu 37 9 100416157 100416157 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 100416157 100416157 G A SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known silent c.1137 p.L379 0.967 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 tier1 - - 45 0 0.00 69 4 5.41 NCCRP1 0 genome.wustl.edu 37 19 39691112 39691112 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 39691112 39691112 C A SNP NCCRP1 ENST00000339852 human ensembl 74_37 +1 known silent c.675 p.G225 0.012 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 tier1 - - 34 0 0.00 81 14 14.74 NOTCH3 0 genome.wustl.edu 37 19 15298067 15298067 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 15298067 15298067 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.1689 p.I563 0.984 pirsf_Notch,pfam_EG-like_dom,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_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,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_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 30 0 0.00 53 11 17.19 NPTXR 0 genome.wustl.edu 37 22 39218704 39218704 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 22 39218704 39218704 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known silent c.1413 p.N471 0.997 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 27 0 0.00 19 3 13.64 NRXN1 0 genome.wustl.edu 37 2 50758384 50758384 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 50758384 50758384 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.2304 p.V768 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 40 0 0.00 58 15 20.55 OR2G2 0 genome.wustl.edu 37 1 247752385 247752385 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 247752385 247752385 G T SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.724 p.G242W 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 140 0 0.00 183 62 25.10 OR2T4 0 genome.wustl.edu 37 1 248525012 248525012 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 248525012 248525012 T G SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.130 p.F44V 0.985 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 90 0 0.00 105 23 17.97 OR51F1 0 genome.wustl.edu 37 11 4790702 4790702 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 4790702 4790702 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.467 p.L156P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 15 0 0.00 16 7 30.43 OR5D18 0 genome.wustl.edu 37 11 55588015 55588015 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 55588015 55588015 G A SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.910 p.E304K 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 24 0 0.00 16 6 27.27 OR8I2 0 genome.wustl.edu 37 11 55861280 55861280 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 55861280 55861280 T G SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.497 p.L166W 0.256 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 32 0 0.00 44 3 6.38 P2RX7 0 genome.wustl.edu 37 12 121598715 121598715 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 121598715 121598715 G A SNP P2RX7 ENST00000546057 human ensembl 74_37 +1 known missense c.374 p.R125H 0.974 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 45 0 0.00 70 4 5.33 PAPOLA 0 genome.wustl.edu 37 14 97018947 97018947 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 97018947 97018947 G A SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known missense c.1652 p.G551D 1.000 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 tier1 - - 44 0 0.00 60 4 6.25 PBRM1 0 genome.wustl.edu 37 3 52712580 52712580 + Nonsense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 52712580 52712580 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known nonsense c.172 p.R58* 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 28 0 0.00 40 14 25.93 PCDH15 0 genome.wustl.edu 37 10 55626442 55626442 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 55626442 55626442 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3677 p.D1226V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 42 0 0.00 45 14 23.73 PCDH17 0 genome.wustl.edu 37 13 58208511 58208511 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 58208511 58208511 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1831 p.R611C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 8 0 0.00 27 2 6.90 PCDHA13 0 genome.wustl.edu 37 5 140264177 140264177 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 140264177 140264177 G T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2324 p.S775I 0.107 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 42 0 0.00 60 5 7.69 PCDHGC5 0 genome.wustl.edu 37 5 140870262 140870262 + Silent SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 140870262 140870262 T C SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known silent c.1455 p.D485 0.526 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 27 0 0.00 36 9 19.57 PCSK6 0 genome.wustl.edu 37 15 101866616 101866616 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 15 101866616 101866616 C T SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.2143 p.V715I 0.115 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 tier1 - - 50 0 0.00 43 4 8.51 PDE9A 0 genome.wustl.edu 37 21 44188496 44188496 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 21 44188496 44188496 G A SNP PDE9A ENST00000466472 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 17 0 0.00 17 6 26.09 PER3 0 genome.wustl.edu 37 1 7890053 7890053 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 7890053 7890053 G A SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.3019 p.A1007T 0.080 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 rs1776342 - 36 0 0.00 66 7 9.59 PGM1 0 genome.wustl.edu 37 1 64101965 64101965 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 64101965 64101965 G A SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known missense c.988 p.V330I 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 tier1 - - 42 0 0.00 42 13 23.64 PIEZO2 0 genome.wustl.edu 37 18 10731435 10731435 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 18 10731435 10731435 G A SNP PIEZO2 ENST00000580640 human ensembl 74_37 -1 novel missense c.4900 p.R1634W 0.026 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 74 0 0.00 149 11 6.88 PIGO 0 genome.wustl.edu 37 9 35091374 35091374 + Missense_Mutation SNP A A T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 35091374 35091374 A T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.2510 p.V837D 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 23 0 0.00 44 4 8.33 PLCL2 0 genome.wustl.edu 37 3 17052198 17052198 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 17052198 17052198 T A SNP PLCL2 ENST00000418129 human ensembl 74_37 +1 known missense c.982 p.S328T 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 tier1 - - 37 0 0.00 66 4 5.71 PLEC 0 genome.wustl.edu 37 8 144994276 144994276 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 144994276 144994276 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10124 p.P3375L 0.014 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 17 0 0.00 46 7 13.21 PLEKHG4B 0 genome.wustl.edu 37 5 162001 162001 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 162001 162001 C A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1523 p.A508D 0.706 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 37 0 0.00 41 8 16.33 PLXNA4 0 genome.wustl.edu 37 7 131872279 131872279 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 131872279 131872279 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2944 p.G982R 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT 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 PLXNA4 HGNC ENSG00000221866 29 0 0.00 57 3 5.00 PON3 0 genome.wustl.edu 37 7 94991762 94991762 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 94991762 94991762 T A SNP PON3 ENST00000265627 human ensembl 74_37 -1 known missense c.818 p.D273V 1.000 pfam_SGL,prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 tier1 - - 22 0 0.00 37 16 30.19 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224819 10224819 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 10224819 10224819 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.1790 p.A597V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 tier1 - - 9 0 0.00 12 5 29.41 PPIB 0 genome.wustl.edu 37 15 64455069 64455069 + Silent SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 15 64455069 64455069 C G SNP PPIB ENST00000300026 human ensembl 74_37 -1 known silent c.117 p.G39 0.969 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 tier1 - - 113 0 0.00 116 43 27.04 PPP1R3A 0 genome.wustl.edu 37 7 113519496 113519496 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 113519496 113519496 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1651 p.S551R 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 47 0 0.00 55 13 19.12 PPP6R1 0 genome.wustl.edu 37 19 55751414 55751414 + Frame_Shift_Del DEL T T - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 55751414 55751414 T - DEL PPP6R1 ENST00000412770 human ensembl 74_37 -1 known frame_shift_del c.1430 p.N477fs 0.097 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 tier1 41 0 0.00 63 24 27.59 PRKAA2 0 genome.wustl.edu 37 1 57173343 57173343 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 57173343 57173343 T G SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1616 p.F539C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 41 0 0.00 57 14 19.72 PRKDC 0 genome.wustl.edu 37 8 48694817 48694817 + Splice_Site SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 48694817 48694817 T G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known splice_site c.11394-2 e81-2 1.000 - - - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 44 0 0.00 56 16 22.22 PRPF8 0 genome.wustl.edu 37 17 1582137 1582137 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 1582137 1582137 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.1638 p.L546 0.994 pfam_PROCN,superfamily_Histone-fold pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 10 0 0.00 26 2 7.14 PRRT4 0 genome.wustl.edu 37 7 127990928 127990928 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 127990928 127990928 G A SNP PRRT4 ENST00000446477 human ensembl 74_37 -1 known silent c.2682 p.S894 0.947 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 19 0 0.00 36 4 10.00 PTPN3 0 genome.wustl.edu 37 9 112153417 112153417 + Splice_Site SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 112153417 112153417 C T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known splice_site c.2106+1 e20+1 1.000 - - - no_errors PTPN3 HGNC ENSG00000070159 33 0 0.00 57 3 5.00 PXDN 0 genome.wustl.edu 37 2 1683977 1683977 + Missense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 1683977 1683977 C G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.718 p.E240Q 1.000 smart_Cys-rich_flank_reg_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 12 0 0.00 15 3 16.67 RAB32 0 genome.wustl.edu 37 6 146870763 146870763 + Silent SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 146870763 146870763 T G SNP RAB32 ENST00000367495 human ensembl 74_37 +1 known silent c.414 p.A138 0.959 pfam_Small_GTPase,pfam_MIRO-like,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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB32 HGNC ENSG00000118508 tier1 - - 42 0 0.00 39 13 25.00 RGS4 0 genome.wustl.edu 37 1 163042211 163042211 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 163042211 163042211 G T SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.362 p.G121V 0.874 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 tier1 - - 37 0 0.00 43 13 23.21 RPA1 0 genome.wustl.edu 37 17 1792008 1792008 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 1792008 1792008 C T SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known missense c.1414 p.R472C 1.000 pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 tier1 rs139432886 - 40 0 0.00 35 17 32.69 RTN3 0 genome.wustl.edu 37 11 63520048 63520048 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 63520048 63520048 G A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known silent c.2808 p.V936 0.997 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 34 0 0.00 56 4 6.67 SAMD4B 0 genome.wustl.edu 37 19 39860506 39860506 + Silent SNP A A T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 39860506 39860506 A T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known silent c.408 p.T136 0.024 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 50 0 0.00 70 4 5.41 SEC23A 0 genome.wustl.edu 37 14 39555000 39555001 + Frame_Shift_Ins INS - - T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 39555000 39555001 - T INS SEC23A ENST00000307712 human ensembl 74_37 -1 known frame_shift_ins c.794_793 p.G265fs 1.000:1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 68 0 0.00 70 8 10.26 SEPT2 0 genome.wustl.edu 37 2 242282453 242282453 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 242282453 242282453 C T SNP SEPT2 ENST00000360051 human ensembl 74_37 +1 known missense c.641 p.P214L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 tier1 - - 34 0 0.00 29 3 9.38 SERPINA12 0 genome.wustl.edu 37 14 94964377 94964377 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 94964377 94964377 T A SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.358 p.I120F 0.005 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 tier1 - - 43 0 0.00 48 10 17.24 SFRP4 0 genome.wustl.edu 37 7 37955709 37955709 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 37955709 37955709 G A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.431 p.T144M 0.987 superfamily_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 tier1 - - 31 0 0.00 60 18 23.08 SIPA1L1 0 genome.wustl.edu 37 14 72137868 72137868 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 72137868 72137868 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2288 p.S763F 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 61 0 0.00 69 11 13.75 SIPA1L2 0 genome.wustl.edu 37 1 232615466 232615466 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 232615466 232615466 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.1992 p.T664 0.014 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 62 0 0.00 67 18 21.18 SLC27A6 0 genome.wustl.edu 37 5 128351577 128351577 + Splice_Site SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 128351577 128351577 G T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known splice_site c.970-1 e5-1 1.000 - - - no_errors SLC27A6 HGNC ENSG00000113396 28 0 0.00 48 4 7.69 SLC2A14 0 genome.wustl.edu 37 12 7966969 7966969 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 7966969 7966969 G A SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known silent c.1506 p.D502 0.001 NULL pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 tier1 rs143806494 - 38 0 0.00 30 23 43.40 SLC44A4 0 genome.wustl.edu 37 6 31838676 31838676 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 6 31838676 31838676 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.850 p.R284W 0.983 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 32 0 0.00 41 3 6.82 SLC4A3 0 genome.wustl.edu 37 2 220501482 220501482 + Silent SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 220501482 220501482 G T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.2502 p.L834 0.965 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 51 0 0.00 73 4 5.19 SLC4A7 0 genome.wustl.edu 37 3 27436095 27436095 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 27436095 27436095 A C SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.3031 p.F1011V 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 - - 58 0 0.00 76 13 14.61 SLC6A11 0 genome.wustl.edu 37 3 10861207 10861207 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 3 10861207 10861207 T C SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.314 p.F105S 1.000 pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 - - 83 0 0.00 107 24 18.32 SLC7A9 0 genome.wustl.edu 37 19 33355051 33355051 + Silent SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 33355051 33355051 G T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.429 p.G143 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 34 0 0.00 43 11 20.37 SP8 0 genome.wustl.edu 37 7 20824098 20824098 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 7 20824098 20824098 G A SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.1338 p.S446 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 - - 19 0 0.00 24 10 29.41 SPATA1 0 genome.wustl.edu 37 1 84982041 84982041 + RNA SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 84982041 84982041 A C SNP SPATA1 ENST00000370638 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors SPATA1 HGNC ENSG00000122432 tier1 - - 75 0 0.00 89 17 16.04 SPG20 0 genome.wustl.edu 37 13 36888568 36888568 + RNA SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 36888568 36888568 A G SNP SPG20 ENST00000482146 human ensembl 74_37 -1 known rna NULL NULL 0.477 - - - no_errors SPG20 HGNC ENSG00000133104 tier1 - - 29 0 0.00 34 8 19.05 SPIRE2 0 genome.wustl.edu 37 16 89925576 89925576 + Nonsense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 16 89925576 89925576 G T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known nonsense c.1276 p.E426* 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 tier1 - - 72 0 0.00 59 4 6.35 SPTA1 0 genome.wustl.edu 37 1 158654912 158654912 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 158654912 158654912 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.250 p.P84T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 55 0 0.00 59 14 19.18 SPTAN1 0 genome.wustl.edu 37 9 131388793 131388793 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 131388793 131388793 C T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.6403 p.R2135C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 36 0 0.00 50 4 7.41 SPTBN4 0 genome.wustl.edu 37 19 41062986 41062986 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 41062986 41062986 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.5347 p.R1783W 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 70 0 0.00 115 10 8.00 SUPT5H 0 genome.wustl.edu 37 19 39955492 39955492 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 39955492 39955492 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.679 p.V227M 1.000 pfam_TF_Spt5_NGN-domain,smart_Transcrpt_antiterm_NusG_N_dom,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 26 0 0.00 40 12 23.08 SVEP1 0 genome.wustl.edu 37 9 113168908 113168908 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 113168908 113168908 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.8972 p.S2991Y 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 19 0 0.00 18 5 21.74 SYT3 0 genome.wustl.edu 37 19 51135871 51135871 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 51135871 51135871 G T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.346 p.H116N 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 20 0 0.00 38 9 19.15 TAF1B 0 genome.wustl.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 9989570 9989571 - A INS TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.N65fs 0.992:0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 13 0 0.00 15 5 25.00 TBC1D31 0 genome.wustl.edu 37 8 124140521 124140521 + Frame_Shift_Del DEL T T - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 124140521 124140521 T - DEL TBC1D31 ENST00000287380 human ensembl 74_37 +1 known frame_shift_del c.1885 p.H632fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 tier1 27 0 0.00 52 3 5.45 TBCD 0 genome.wustl.edu 37 17 80861311 80861311 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 80861311 80861311 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.1761 p.L587 0.171 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 39 0 0.00 65 5 7.14 TCHH 0 genome.wustl.edu 37 1 152086555 152086556 + Frame_Shift_Ins INS - - T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 152086555 152086556 - T INS TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 27 0 0.00 44 3 6.38 TCHH 0 genome.wustl.edu 37 1 152082484 152082484 + Missense_Mutation SNP G G T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 152082484 152082484 G T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3209 p.T1070K 0.035 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 79 0 0.00 137 8 5.52 TESPA1 0 genome.wustl.edu 37 12 55359872 55359872 + Silent SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 12 55359872 55359872 G A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known silent c.411 p.S137 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 38 0 0.00 50 4 7.27 TMEM64 0 genome.wustl.edu 37 8 91715677 91715677 + RNA SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 91715677 91715677 G A SNP TMEM64 ENST00000521211 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM64 HGNC ENSG00000180694 tier1 - - 38 0 0.00 41 15 26.32 TONSL 0 genome.wustl.edu 37 8 145664111 145664113 + In_Frame_Del DEL GTC GTC - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 8 145664111 145664113 GTC - DEL TONSL ENST00000409379 human ensembl 74_37 -1 known in_frame_del c.1488_1486 p.D496in_frame_del 0.000:0.412:0.438 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 83 0 0.00 102 13 11.30 TP53 0 genome.wustl.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 7577559 7577559 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.722 p.S241F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934573 - 36 0 0.00 31 11 26.19 TPP2 0 genome.wustl.edu 37 13 103326806 103326806 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 13 103326806 103326806 A G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.3506 p.E1169G 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 tier1 - - 59 0 0.00 69 4 5.41 TRIM16L 0 genome.wustl.edu 37 17 18630877 18630877 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 18630877 18630877 T A SNP TRIM16L ENST00000395902 human ensembl 74_37 +1 known missense c.169 p.F57I 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIM16L HGNC ENSG00000108448 tier1 - - 92 0 0.00 100 8 7.34 TRIM64B 0 genome.wustl.edu 37 11 89603859 89603859 + Missense_Mutation SNP A A C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 11 89603859 89603859 A C SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.1280 p.L427R 0.224 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,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 TRIM64B HGNC ENSG00000189253 tier1 - - 139 0 0.00 238 45 15.90 TRIML2 0 genome.wustl.edu 37 4 189026085 189026085 + Missense_Mutation SNP T T G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 4 189026085 189026085 T G SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.41 p.K14T 0.866 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 35 0 0.00 54 11 16.92 TSN 0 genome.wustl.edu 37 2 122522720 122522720 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 122522720 122522720 C A SNP TSN ENST00000389682 human ensembl 74_37 +1 known missense c.464 p.S155Y 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 32 0 0.00 71 4 5.33 UBXN4 0 genome.wustl.edu 37 2 136513152 136513152 + Silent SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 136513152 136513152 T C SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known silent c.399 p.T133 0.964 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 47 0 0.00 58 4 6.35 USH2A 0 genome.wustl.edu 37 1 216017824 216017824 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 216017824 216017824 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9070 p.L3024F 0.972 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 29 0 0.00 37 3 7.50 VAV1 0 genome.wustl.edu 37 19 6832176 6832178 + In_Frame_Del DEL GAA GAA - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 6832176 6832178 GAA - DEL VAV1 ENST00000602142 human ensembl 74_37 +1 known in_frame_del c.1473_1475 p.K494in_frame_del 1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 40 0 0.00 49 10 16.95 VCAN 0 genome.wustl.edu 37 5 82817036 82817036 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 5 82817036 82817036 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2911 p.H971N 0.888 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 20 0 0.00 27 6 18.18 VRTN 0 genome.wustl.edu 37 14 74825015 74825015 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 74825015 74825015 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.1529 p.R510H 0.004 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 tier1 - - 79 0 0.00 108 28 20.59 XPNPEP1 0 genome.wustl.edu 37 10 111651336 111651337 + RNA INS - - T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 10 111651336 111651337 - T INS XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 8 0 0.00 20 4 16.67 XPNPEP2 0 genome.wustl.edu 37 X 128888456 128888456 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d X 128888456 128888456 C T SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known silent c.1116 p.D372 0.359 superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 tier1 - - 32 0 0.00 32 23 41.82 YLPM1 0 genome.wustl.edu 37 14 75247267 75247267 + Nonsense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 14 75247267 75247267 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known nonsense c.1270 p.Q424* 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 69 0 0.00 57 4 6.56 YY1AP1 0 genome.wustl.edu 37 1 155649228 155649228 + Missense_Mutation SNP C C G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 155649228 155649228 C G SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.511 p.A171P 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 61 0 0.00 95 15 13.64 YY1AP1 0 genome.wustl.edu 37 1 155649229 155649229 + Missense_Mutation SNP T T A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 155649229 155649229 T A SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.510 p.Q170H 0.998 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 61 0 0.00 96 15 13.51 YY1AP1 0 genome.wustl.edu 37 1 155649230 155649230 + Missense_Mutation SNP T T C TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 1 155649230 155649230 T C SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.509 p.Q170R 0.993 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 59 0 0.00 96 15 13.51 ZFX 0 genome.wustl.edu 37 X 24228809 24228809 + Silent SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d X 24228809 24228809 C T SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1851 p.C617 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 19 0 0.00 22 14 38.89 ZNF221 0 genome.wustl.edu 37 19 44470960 44470960 + Nonsense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 44470960 44470960 C T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known nonsense c.1306 p.R436* 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 ZNF221 HGNC ENSG00000159905 tier1 rs148293806 - 48 0 0.00 42 13 23.64 ZNF222 0 genome.wustl.edu 37 19 44536593 44536593 + Missense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 44536593 44536593 C T SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known missense c.886 p.P296S 0.999 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 ZNF222 HGNC ENSG00000159885 46 0 0.00 43 3 6.52 ZNF286A 0 genome.wustl.edu 37 17 15604684 15604685 + RNA INS - - G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 15604684 15604685 - G INS ZNF286A ENST00000580136 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors ZNF286A Uniprot_gn ENSG00000187607 tier1 15 0 0.00 5 4 44.44 ZNF335 0 genome.wustl.edu 37 20 44600814 44600814 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 20 44600814 44600814 A G SNP ZNF335 ENST00000426788 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 53 0 0.00 53 14 20.90 ZNF347 0 genome.wustl.edu 37 19 53644505 53644505 + Missense_Mutation SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 53644505 53644505 A G SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1579 p.S527P 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 tier1 - - 87 0 0.00 124 12 8.82 ZNF483 0 genome.wustl.edu 37 9 114303978 114303978 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 9 114303978 114303978 G A SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.763 p.D255N 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZNF483 HGNC ENSG00000173258 tier1 - - 20 0 0.00 40 8 16.67 ZNF571 0 genome.wustl.edu 37 19 38056190 38056193 + Frame_Shift_Del DEL GTAA GTAA - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 38056190 38056193 GTAA - DEL ZNF571 ENST00000328550 human ensembl 74_37 -1 known frame_shift_del c.1140_1137 p.Y380fs 0.000:0.000:0.000:0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 63 0 0.00 52 6 10.34 ZNF582 0 genome.wustl.edu 37 19 56895581 56895581 + Missense_Mutation SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 56895581 56895581 C A SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.1205 p.R402M 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 tier1 - - 43 0 0.00 68 4 5.56 ZNF730 0 genome.wustl.edu 37 19 23328707 23328707 + Silent SNP A A G TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 23328707 23328707 A G SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known silent c.861 p.E287 0.031 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 tier1 - - 69 0 0.00 48 12 20.00 ZNF768 0 genome.wustl.edu 37 16 30536262 30536262 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 16 30536262 30536262 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1199 p.P400L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 tier1 - - 67 0 0.00 67 25 27.17 ZNF776 0 genome.wustl.edu 37 19 58258457 58258457 + Nonsense_Mutation SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 58258457 58258457 C T SNP ZNF776 ENST00000317178 human ensembl 74_37 +1 known nonsense c.31 p.Q11* 0.038 superfamily_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 ZNF776 HGNC ENSG00000152443 tier1 - - 130 0 0.00 144 41 22.16 ZNF804A 0 genome.wustl.edu 37 2 185802007 185802007 + Missense_Mutation SNP A A T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 2 185802007 185802007 A T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1884 p.E628D 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 39 0 0.00 50 8 13.79 ZNF90 0 genome.wustl.edu 37 19 20235983 20235983 + RNA SNP C C T TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 19 20235983 20235983 C T SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 36 0 0.00 68 13 16.05 ZZEF1 0 genome.wustl.edu 37 17 3912906 3912906 + Missense_Mutation SNP G G A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a2ea76a-877a-4f5b-b02d-907af03bd8d9 e79ed459-4958-47d3-848a-cee4634e978d 17 3912906 3912906 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.8725 p.R2909C 0.992 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 29 0 0.00 29 13 30.95