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 ABCA17P 0 genome.wustl.edu 37 16 2415790 2415790 + RNA SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 2415790 2415790 A G SNP ABCA17P ENST00000469908 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCA17P HGNC ENSG00000238098 tier1 - - 40 0 0.00 33 24 41.38 ABCA9 0 genome.wustl.edu 37 17 67016582 67016582 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 67016582 67016582 T C SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.2547 p.I849M 0.730 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 - - 29 0 0.00 7 9 56.25 ADAM9 0 genome.wustl.edu 37 8 38871570 38871570 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 38871570 38871570 A G SNP ADAM9 ENST00000481513 human ensembl 74_37 +1 putative missense c.341 p.Y114C 0.120 NULL pfam_Peptidase_M12B_N - no_errors ADAM9 HGNC ENSG00000168615 tier1 - - 36 0 0.00 10 10 50.00 ADCYAP1R1 0 genome.wustl.edu 37 7 31121353 31121353 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 31121353 31121353 C G SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.312 p.N104K 0.040 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 tier1 - - 62 0 0.00 72 30 29.41 AIM1 0 genome.wustl.edu 37 6 106967551 106967551 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 106967551 106967551 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.1244 p.S415N 0.003 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 31 0 0.00 18 4 18.18 ANKRD32 0 genome.wustl.edu 37 5 93990336 93990336 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 93990336 93990336 A G SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.1034 p.K345R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 60 0 0.00 45 5 10.00 AOC3 0 genome.wustl.edu 37 17 41004906 41004906 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 41004906 41004906 C G SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1546 p.L516V 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 42 0 0.00 6 12 66.67 ARID2 0 genome.wustl.edu 37 12 46299425 46299425 + RNA SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 46299425 46299425 A G SNP ARID2 ENST00000479608 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 56 0 0.00 28 12 30.00 ARMC3 0 genome.wustl.edu 37 10 23257303 23257303 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 23257303 23257303 G T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.801 p.M267I 0.009 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 - - 22 0 0.00 11 3 21.43 ASB15 0 genome.wustl.edu 37 7 123264623 123264623 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 123264623 123264623 C A SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.452 p.A151D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 tier1 - - 36 0 0.00 3 18 85.71 ASTN1 0 genome.wustl.edu 37 1 176926897 176926897 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 176926897 176926897 G T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1828 p.R610S 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 38 0 0.00 34 3 8.11 ATP1A1 0 genome.wustl.edu 37 1 116939316 116939316 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 116939316 116939316 G T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.1933 p.A645S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 - - 55 0 0.00 50 4 7.41 ATP1A1 0 genome.wustl.edu 37 1 116931580 116931580 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 116931580 116931580 C T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known silent c.693 p.F231 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 19 0 0.00 12 2 14.29 ATP8A1 0 genome.wustl.edu 37 4 42425657 42425657 + Silent SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 42425657 42425657 C G SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.3189 p.L1063 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 29 0 0.00 5 16 76.19 AXIN1 0 genome.wustl.edu 37 16 396856 396856 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 396856 396856 G C SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.170 p.S57W 0.991 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 - - 28 0 0.00 21 11 34.38 BCHE 0 genome.wustl.edu 37 3 165548781 165548781 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 165548781 165548781 A T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.41 p.F14Y 0.007 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 38 0 0.00 36 8 17.78 BMP8B 0 genome.wustl.edu 37 1 40230649 40230649 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 40230649 40230649 C T SNP BMP8B ENST00000397360 human ensembl 74_37 -1 known silent c.705 p.K235 0.000 NULL pfam_TGF-b_N - no_errors BMP8B HGNC ENSG00000116985 tier1 rs201039967 - 27 0 0.00 23 4 14.81 BMPR2 0 genome.wustl.edu 37 2 203420310 203420310 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 203420310 203420310 A G SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.1922 p.H641R 0.994 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 tier1 - - 22 0 0.00 7 3 30.00 BRDT 0 genome.wustl.edu 37 1 92470076 92470076 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 92470076 92470076 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.2494 p.A832T 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 tier1 - - 45 0 0.00 32 4 11.11 C17orf58 0 genome.wustl.edu 37 17 65989212 65989213 + Frame_Shift_Ins INS - - A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 65989212 65989213 - A INS C17orf58 ENST00000449250 human ensembl 74_37 -1 known frame_shift_ins c.51_50 p.M17fs 0.000:0.176 superfamily_TIMP-like_OB-fold superfamily_TIMP-like_OB-fold - no_errors C17orf58 HGNC ENSG00000186665 tier1 47 0 0.00 20 43 68.25 C9orf64 0 genome.wustl.edu 37 9 86570359 86570359 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 86570359 86570359 C T SNP C9orf64 ENST00000376344 human ensembl 74_37 -1 known silent c.534 p.A178 0.223 pfam_DUF2419 pfam_DUF2419 - no_errors C9orf64 HGNC ENSG00000165118 41 0 0.00 15 2 11.76 CA10 0 genome.wustl.edu 37 17 49825063 49825063 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 49825063 49825063 C T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.413 p.R138Q 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 97 0 0.00 51 8 13.56 CACNA1I 0 genome.wustl.edu 37 22 40045758 40045760 + In_Frame_Del DEL AGG AGG - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 22 40045758 40045760 AGG 0 DEL CACNA1I ENST00000336649 human ensembl 74_37 +1 known in_frame_del c.1838_1840 p.E617in_frame_del 1.000:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 91 0 0.00 102 7 6.42 CASP6 0 genome.wustl.edu 37 4 110624546 110624546 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 110624546 110624546 G A SNP CASP6 ENST00000265164 human ensembl 74_37 -1 known silent c.6 p.S2 0.189 NULL pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP6 HGNC ENSG00000138794 tier1 - - 34 0 0.00 18 18 50.00 CAST 0 genome.wustl.edu 37 5 96098065 96098065 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 96098065 96098065 C T SNP CAST ENST00000395813 human ensembl 74_37 +1 known missense c.1921 p.R641C 0.581 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 tier1 - - 38 0 0.00 31 11 26.19 CASZ1 0 genome.wustl.edu 37 1 10715742 10715742 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 10715742 10715742 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.1629 p.H543 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 58 0 0.00 28 15 34.88 CCDC88C 0 genome.wustl.edu 37 14 91804354 91804354 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 91804354 91804354 T C SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.1045 p.M349V 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 38 0 0.00 26 12 31.58 CD22 0 genome.wustl.edu 37 19 35827012 35827012 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 35827012 35827012 G T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.486 p.L162F 0.116 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 42 0 0.00 20 2 9.09 CD83 0 genome.wustl.edu 37 6 14131847 14131847 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 14131847 14131847 G A SNP CD83 ENST00000379153 human ensembl 74_37 +1 known missense c.250 p.A84T 0.003 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD83 HGNC ENSG00000112149 62 0 0.00 51 3 5.56 CDH4 0 genome.wustl.edu 37 20 60498649 60498649 + Silent SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 60498649 60498649 C A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1515 p.P505 0.997 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 37 0 0.00 30 5 14.29 CELF1 0 genome.wustl.edu 37 11 47496971 47496971 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 47496971 47496971 T C SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known missense c.1184 p.Y395C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 tier1 - - 38 0 0.00 20 15 42.86 CEP170 0 genome.wustl.edu 37 1 243288181 243288182 + RNA INS - - TT TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 243288181 243288182 - TT INS CEP170 ENST00000468254 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CEP170 HGNC ENSG00000143702 tier1 31 0 0.00 22 3 12.00 CHEK2P2 0 genome.wustl.edu 37 15 20490509 20490509 + RNA SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 20490509 20490509 G A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier1 - - 424 0 0.00 246 50 16.89 CHTOP 0 genome.wustl.edu 37 1 153610909 153610909 + Silent SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 153610909 153610909 A G SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known silent c.204 p.A68 0.995 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 34 0 0.00 27 5 15.62 CLEC4G 0 genome.wustl.edu 37 19 7794380 7794380 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 7794380 7794380 G T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.754 p.Q252K 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 tier1 - - 28 0 0.00 32 6 15.79 CLIC1 0 genome.wustl.edu 37 6 31704068 31704068 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 31704068 31704068 C G SNP CLIC1 ENST00000375779 human ensembl 74_37 -1 known missense c.10 p.E4Q 1.000 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 33 0 0.00 46 3 6.00 CLIC3 0 genome.wustl.edu 37 9 139890207 139890207 + Silent SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 139890207 139890207 C G SNP CLIC3 ENST00000494426 human ensembl 74_37 -1 known silent c.36 p.A12 0.914 superfamily_Thioredoxin-like_fold superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel - no_errors CLIC3 HGNC ENSG00000169583 tier1 - - 28 0 0.00 9 24 72.73 CMYA5 0 genome.wustl.edu 37 5 79095254 79095254 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 79095254 79095254 G C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.12025 p.V4009L 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 79 0 0.00 47 27 36.49 CNKSR1 0 genome.wustl.edu 37 1 26508862 26508862 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 26508862 26508862 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.488 p.A163V 0.187 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 65 0 0.00 64 4 5.88 CNN2 0 genome.wustl.edu 37 19 1037969 1037970 + RNA DEL TT TT - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 1037969 1037970 TT - DEL CNN2 ENST00000606983 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CNN2 HGNC ENSG00000064666 tier1 22 0 0.00 10 4 28.57 CNTNAP5 0 genome.wustl.edu 37 2 125284959 125284959 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 125284959 125284959 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1572 p.D524E 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 86 0 0.00 32 30 48.39 CR1L 0 genome.wustl.edu 37 1 207872577 207872577 + Nonsense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 207872577 207872577 G T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known nonsense c.1186 p.G396* 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 tier1 - - 225 0 0.00 93 72 43.64 CRYBB1 0 genome.wustl.edu 37 22 27008042 27008042 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 22 27008042 27008042 G A SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.293 p.A98V 0.749 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 tier1 rs144372140 - 72 0 0.00 52 11 17.46 CSF2RA 0 genome.wustl.edu 37 X 1409389 1409389 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a X 1409389 1409389 C G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.633 p.D211E 0.000 pfam_IL-6_rcpt_alpha-bd pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 102 0 0.00 71 14 16.47 CTAGE6 0 genome.wustl.edu 37 7 143453646 143453646 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 143453646 143453646 T C SNP CTAGE6 ENST00000470691 human ensembl 74_37 -1 known missense c.1106 p.E369G 0.022 NULL superfamily_tRNA-bd_arm - no_errors CTAGE6 HGNC ENSG00000271321 tier1 - - 378 0 0.00 206 14 6.36 CYBRD1 0 genome.wustl.edu 37 2 172378944 172378944 + RNA SNP A A C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 172378944 172378944 A C SNP CYBRD1 ENST00000468308 human ensembl 74_37 +1 known rna NULL NULL 0.190 - - - no_errors CYBRD1 HGNC ENSG00000071967 tier1 - - 28 0 0.00 8 10 55.56 CYP11B2 0 genome.wustl.edu 37 8 143998573 143998573 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 143998573 143998573 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.297 p.K99 0.105 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 26 0 0.00 47 5 9.62 DDX4 0 genome.wustl.edu 37 5 55110956 55110956 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 55110956 55110956 C T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1943 p.S648L 0.288 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 tier1 - - 91 0 0.00 71 33 31.73 DDX54 0 genome.wustl.edu 37 12 113601889 113601891 + In_Frame_Del DEL CCT CCT - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 113601889 113601891 CCT - DEL DDX54 ENST00000314045 human ensembl 74_37 -1 known in_frame_del c.1921_1919 p.E640in_frame_del 0.000:0.000:0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 tier1 47 0 0.00 26 3 10.34 DHX9 0 genome.wustl.edu 37 1 182829305 182829305 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 182829305 182829305 A T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1318 p.I440F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 35 0 0.00 20 3 13.04 DNAH10 0 genome.wustl.edu 37 12 124332585 124332585 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 124332585 124332585 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5538 p.A1846 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 59 0 0.00 37 2 5.13 DNAH12 0 genome.wustl.edu 37 3 57391464 57391464 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 57391464 57391464 G T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.6435 p.F2145L 0.972 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 49 0 0.00 23 3 11.54 DNAH5 0 genome.wustl.edu 37 5 13700767 13700767 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 13700767 13700767 T A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13705 p.I4569F 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 23 0 0.00 19 8 29.63 EDAR 0 genome.wustl.edu 37 2 109527234 109527234 + Frame_Shift_Del DEL G G - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 109527234 109527234 G - DEL EDAR ENST00000376651 human ensembl 74_37 -1 known frame_shift_del c.824 p.P275fs 0.995 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 tier1 55 0 0.00 23 2 8.00 EDC4 0 genome.wustl.edu 37 16 67911274 67911274 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 67911274 67911274 C T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.606 p.F202 0.992 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 104 0 0.00 30 43 58.90 EHBP1 0 genome.wustl.edu 37 2 62998478 62998478 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 62998478 62998478 C A SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.263 p.P88H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 123 0 0.00 88 45 33.83 EHD1 0 genome.wustl.edu 37 11 64627509 64627509 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 64627509 64627509 G A SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.802 p.R268C 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 tier1 rs145274478 - 67 0 0.00 42 22 34.38 EHD1 0 genome.wustl.edu 37 11 64627713 64627713 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 64627713 64627713 A G SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.598 p.F200L 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 35 0 0.00 24 26 52.00 ENSG00000205746 0 genome.wustl.edu 37 16 18437612 18437612 + RNA DEL G G - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 18437612 18437612 G - DEL ENSG00000205746 ENST00000433020 human ensembl 74_37 -1 known rna NULL NULL 0.416 - - - no_errors RP11-1212A22.1 Clone_based_vega_gene ENSG00000205746 tier1 30 0 0.00 21 8 27.59 ENSG00000221810 0 genome.wustl.edu 37 5 92053194 92053194 + RNA SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 92053194 92053194 T C SNP ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC026781.1 Clone_based_ensembl_gene ENSG00000221810 tier1 - - 13 0 0.00 2 7 77.78 ENSG00000230393 0 genome.wustl.edu 37 2 100722620 100722620 + RNA SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 100722620 100722620 C A SNP ENSG00000230393 ENST00000434301 human ensembl 74_37 +1 known rna NULL NULL 0.078 - - - no_errors AC092667.2 Clone_based_vega_gene ENSG00000230393 tier1 - - 16 0 0.00 13 5 27.78 EPHA5 0 genome.wustl.edu 37 4 66197758 66197758 + Silent SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 66197758 66197758 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.2941 p.R981 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 52 0 0.00 35 2 5.41 ERMARD 0 genome.wustl.edu 37 6 170154006 170154006 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 170154006 170154006 A G SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.53 p.Y18C 0.924 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 tier1 - - 55 0 0.00 19 20 51.28 ERVW-1 0 genome.wustl.edu 37 7 92099372 92099372 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 92099372 92099372 G A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known silent c.324 p.Y108 0.489 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 tier1 - - 32 0 0.00 32 16 33.33 ETNK1 0 genome.wustl.edu 37 12 22826493 22826493 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 22826493 22826493 C T SNP ETNK1 ENST00000266517 human ensembl 74_37 +1 known missense c.1111 p.R371C 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 28 0 0.00 32 3 8.57 EXD1 0 genome.wustl.edu 37 15 41508931 41508931 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 41508931 41508931 G T SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.149 p.P50H 0.938 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 tier1 - - 109 0 0.00 73 4 5.19 EXO5 0 genome.wustl.edu 37 1 40981183 40981183 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 40981183 40981183 A G SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.967 p.M323V 0.171 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 tier1 rs145178039 - 20 0 0.00 14 10 41.67 FAM133B 0 genome.wustl.edu 37 7 92206427 92206427 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 92206427 92206427 G A SNP FAM133B ENST00000445716 human ensembl 74_37 -1 known missense c.455 p.S152L 1.000 NULL NULL - no_errors FAM133B HGNC ENSG00000234545 tier1 - - 24 0 0.00 26 27 50.94 FAM183B 0 genome.wustl.edu 37 7 38725392 38725392 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 38725392 38725392 G T SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel missense c.214 p.H72N 0.938 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 tier1 - - 78 0 0.00 52 29 35.80 FAM208B 0 genome.wustl.edu 37 10 5791064 5791064 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 5791064 5791064 C G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.5680 p.P1894A 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 42 0 0.00 29 22 43.14 FAM76A 0 genome.wustl.edu 37 1 28087091 28087091 + Nonstop_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 28087091 28087091 G T SNP FAM76A ENST00000010299 human ensembl 74_37 +1 known nonstop c.1025 p.*342L 0.962 NULL NULL - no_errors FAM76A HGNC ENSG00000009780 tier1 - - 26 0 0.00 31 4 11.43 FAM83B 0 genome.wustl.edu 37 6 54735248 54735248 + Silent SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 54735248 54735248 C G SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known silent c.204 p.V68 0.915 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 47 0 0.00 12 13 52.00 FITM1 0 genome.wustl.edu 37 14 24601457 24601457 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 24601457 24601457 T C SNP FITM1 ENST00000267426 human ensembl 74_37 +1 known missense c.304 p.F102L 1.000 pfam_FIT pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 tier1 - - 30 0 0.00 23 7 23.33 FLRT3 0 genome.wustl.edu 37 20 14306311 14306311 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 14306311 14306311 T C SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1842 p.I614M 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 tier1 - - 99 0 0.00 58 17 22.67 GAL3ST4 0 genome.wustl.edu 37 7 99758410 99758410 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 99758410 99758410 C T SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.602 p.R201H 0.991 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 33 0 0.00 36 3 7.69 GARS 0 genome.wustl.edu 37 7 30661051 30661051 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 30661051 30661051 G T SNP GARS ENST00000389266 human ensembl 74_37 +1 known missense c.1402 p.D468Y 1.000 pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 tier1 - - 41 0 0.00 31 14 31.11 GGN 0 genome.wustl.edu 37 19 38876922 38876922 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 38876922 38876922 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.980 p.S327L 0.042 NULL NULL - no_errors GGN HGNC ENSG00000179168 36 0 0.00 17 2 10.53 GGT5 0 genome.wustl.edu 37 22 24627486 24627486 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 22 24627486 24627486 G T SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.767 p.T256K 0.966 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 tier1 - - 38 0 0.00 37 14 27.45 GLTSCR1L 0 genome.wustl.edu 37 6 42824919 42824919 + Silent SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 42824919 42824919 G T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known silent c.2199 p.L733 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 tier1 - - 28 0 0.00 26 17 39.53 GLTSCR1L 0 genome.wustl.edu 37 6 42824920 42824920 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 42824920 42824920 C T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.2200 p.L734F 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 tier1 - - 28 0 0.00 25 17 40.48 GNAI2 0 genome.wustl.edu 37 3 50296329 50296329 + RNA DEL G G - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 50296329 50296329 G - DEL GNAI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GNAI2 HGNC ENSG00000114353 tier1 9 0 0.00 3 3 50.00 GOLGA6B 0 genome.wustl.edu 37 15 72958352 72958352 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 72958352 72958352 C T SNP GOLGA6B ENST00000421285 human ensembl 74_37 +1 known missense c.1837 p.L613F 1.000 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 100 0 0.00 71 14 16.47 GPR107 0 genome.wustl.edu 37 9 132816283 132816283 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 132816283 132816283 C T SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known silent c.72 p.L24 0.162 NULL pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 tier1 - - 15 0 0.00 11 4 26.67 GPR179 0 genome.wustl.edu 37 17 36483731 36483731 + Silent SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 36483731 36483731 G T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.5721 p.S1907 0.016 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 93 0 0.00 47 4 7.84 GPR98 0 genome.wustl.edu 37 5 89948338 89948338 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 89948338 89948338 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3592 p.E1198K 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 34 0 0.00 14 8 36.36 GRASP 0 genome.wustl.edu 37 12 52407950 52407950 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 52407950 52407950 G T SNP GRASP ENST00000293662 human ensembl 74_37 +1 known missense c.647 p.R216M 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 tier1 - - 60 0 0.00 46 5 9.80 HCAR3 0 genome.wustl.edu 37 12 123200613 123200613 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 123200613 123200613 G A SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known silent c.672 p.A224 0.446 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 14 0 0.00 3 4 57.14 HEATR1 0 genome.wustl.edu 37 1 236730087 236730087 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 236730087 236730087 G C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.4167 p.H1389Q 0.918 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 22 0 0.00 7 8 53.33 HELZ2 0 genome.wustl.edu 37 20 62196935 62196935 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 62196935 62196935 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.3240 p.D1080 0.799 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 15 0 0.00 12 4 25.00 HIST1H1B 0 genome.wustl.edu 37 6 27834657 27834657 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 27834657 27834657 C A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.651 p.K217N 0.995 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 54 0 0.00 52 3 5.45 HMGN2P46 0 genome.wustl.edu 37 15 45848231 45848231 + RNA DEL T T - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 45848231 45848231 T - DEL HMGN2P46 ENST00000313559 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HMGN2P46 HGNC ENSG00000179362 tier1 17 0 0.00 8 4 33.33 HNF4A 0 genome.wustl.edu 37 20 43052981 43052981 + Silent SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 43052981 43052981 T C SNP HNF4A ENST00000443598 human ensembl 74_37 +1 known silent c.1216 p.L406 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_COUP_TF - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 18 0 0.00 8 4 33.33 HR 0 genome.wustl.edu 37 8 21977925 21977925 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 21977925 21977925 G C SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2706 p.S902R 0.061 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 - - 32 0 0.00 10 9 47.37 HSF4 0 genome.wustl.edu 37 16 67203680 67203680 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 67203680 67203680 T C SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.1471 p.S491P 0.968 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 tier1 - - 55 0 0.00 44 4 8.33 HTR1D 0 genome.wustl.edu 37 1 23519984 23519984 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 23519984 23519984 G C SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.729 p.H243Q 0.219 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 57 0 0.00 47 11 18.97 INPP5A 0 genome.wustl.edu 37 10 134579331 134579331 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 134579331 134579331 G T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.958 p.D320Y 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 tier1 - - 74 0 0.00 73 4 5.19 INTS4 0 genome.wustl.edu 37 11 77690104 77690104 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 77690104 77690104 T C SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.409 p.I137V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 61 0 0.00 23 19 45.24 ITGA8 0 genome.wustl.edu 37 10 15573108 15573108 + Nonsense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 15573108 15573108 C A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known nonsense c.2923 p.E975* 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 34 0 0.00 17 14 45.16 ITK 0 genome.wustl.edu 37 5 156671417 156671417 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 156671417 156671417 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.1378 p.L460 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 52 0 0.00 62 4 6.06 KCNB1 0 genome.wustl.edu 37 20 47991182 47991182 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 47991182 47991182 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.915 p.L305 0.981 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 tier1 - - 21 0 0.00 23 9 28.12 KCNQ4 0 genome.wustl.edu 37 1 41300749 41300749 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 41300749 41300749 G A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.1724 p.R575Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 57 0 0.00 39 5 11.36 KCNQ5 0 genome.wustl.edu 37 6 73904443 73904443 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 73904443 73904443 T C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2135 p.F712S 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 32 0 0.00 12 4 25.00 KDM4C 0 genome.wustl.edu 37 9 6986499 6986499 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 6986499 6986499 G A SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.1510 p.E504K 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 64 0 0.00 11 20 64.52 KIAA1109 0 genome.wustl.edu 37 4 123258086 123258086 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 123258086 123258086 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.12061 p.M4021V 0.997 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 33 0 0.00 15 22 59.46 KIAA1199 0 genome.wustl.edu 37 15 81235410 81235410 + Frame_Shift_Del DEL A A - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 81235410 81235410 A - DEL KIAA1199 ENST00000220244 human ensembl 74_37 +1 known frame_shift_del c.3824 p.Q1275fs 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 tier1 59 0 0.00 16 12 42.86 KIF13A 0 genome.wustl.edu 37 6 17781431 17781431 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 17781431 17781431 T C SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.3646 p.I1216V 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 38 0 0.00 38 7 15.56 KIF4A 0 genome.wustl.edu 37 X 69594099 69594099 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a X 69594099 69594099 A T SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.1773 p.Q591H 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 tier1 - - 18 0 0.00 8 13 61.90 KLHL20 0 genome.wustl.edu 37 1 173751271 173751271 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 173751271 173751271 G T SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known missense c.1648 p.A550S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 tier1 - - 115 0 0.00 66 12 15.00 KMT2D 0 genome.wustl.edu 37 12 49426774 49426774 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 49426774 49426774 T A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.11714 p.Q3905L 0.688 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 64 0 0.00 46 3 6.12 KRT73 0 genome.wustl.edu 37 12 53004427 53004427 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 53004427 53004427 G T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1303 p.R435S 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 48 0 0.00 50 3 5.66 KRT81 0 genome.wustl.edu 37 12 52681102 52681102 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 52681102 52681102 G C SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.1031 p.S344C 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 tier1 - - 31 0 0.00 24 9 27.27 LIG4 0 genome.wustl.edu 37 13 108863310 108863310 + Nonsense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 13 108863310 108863310 C A SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known nonsense c.307 p.G103* 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 37 0 0.00 16 6 27.27 LINC00982 0 genome.wustl.edu 37 1 2979294 2979294 + RNA SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 2979294 2979294 C T SNP LINC00982 ENST00000321399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00982 HGNC ENSG00000177133 tier1 - - 76 0 0.00 82 16 16.33 LIPJ 0 genome.wustl.edu 37 10 90351161 90351161 + Frame_Shift_Del DEL C C - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 90351161 90351161 C - DEL LIPJ ENST00000371939 human ensembl 74_37 +1 known frame_shift_del c.36 p.P13fs 0.996 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 tier1 57 0 0.00 18 2 10.00 LOC101930284 0 genome.wustl.edu 37 1 143230253 143230253 + RNA SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 143230253 143230253 T C SNP LOC101930284 ENST00000427309 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 26 0 0.00 6 2 25.00 LRAT 0 genome.wustl.edu 37 4 155665738 155665738 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 155665738 155665738 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.260 p.R87H 0.260 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 tier1 - - 20 0 0.00 2 8 80.00 LRBA 0 genome.wustl.edu 37 4 151791717 151791717 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 151791717 151791717 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known silent c.2409 p.Q803 0.975 superfamily_ARM-type_fold 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 - no_errors LRBA HGNC ENSG00000198589 32 0 0.00 29 2 6.45 LRP2 0 genome.wustl.edu 37 2 170027101 170027101 + Silent SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 170027101 170027101 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.11340 p.H3780 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 68 0 0.00 15 30 66.67 LRRC37A3 0 genome.wustl.edu 37 17 62892916 62892916 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 62892916 62892916 G T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.460 p.P154T 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 67 0 0.00 40 27 40.30 LRRC37A6P 0 genome.wustl.edu 37 10 27537671 27537671 + RNA SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 27537671 27537671 A T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 169 0 0.00 108 55 33.74 LRRC4B 0 genome.wustl.edu 37 19 51022489 51022489 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 51022489 51022489 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.481 p.R161W 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 92 0 0.00 54 3 5.26 MALAT1 0 genome.wustl.edu 37 11 65269897 65269898 + RNA INS - - T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 65269897 65269898 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.985:0.013 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 43 0 0.00 37 3 7.50 MAML2 0 genome.wustl.edu 37 11 95724824 95724825 + Frame_Shift_Ins INS - - A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 95724824 95724825 - A INS MAML2 ENST00000524717 human ensembl 74_37 -1 known frame_shift_ins c.2203_2202 p.P734fs 1.000:1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 68 0 0.00 29 26 47.27 MARC2 0 genome.wustl.edu 37 1 220936256 220936256 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 220936256 220936256 C T SNP MARC2 ENST00000366913 human ensembl 74_37 +1 known missense c.614 p.A205V 1.000 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 tier1 - - 80 0 0.00 29 29 50.00 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662235 47662235 + RNA DEL T T - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 21 47662235 47662235 T - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.165 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 tier1 28 0 0.00 26 8 23.53 MGAM 0 genome.wustl.edu 37 7 141799444 141799444 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 141799444 141799444 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.5093 p.K1698R 0.006 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 100 0 0.00 38 49 56.32 MIA3 0 genome.wustl.edu 37 1 222803584 222803584 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 222803584 222803584 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.3022 p.E1008K 0.057 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 19 0 0.00 25 2 7.41 MIEN1 0 genome.wustl.edu 37 17 37886006 37886006 + Nonsense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 37886006 37886006 C A SNP MIEN1 ENST00000394231 human ensembl 74_37 -1 known nonsense c.196 p.E66* 1.000 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 25 0 0.00 15 2 11.76 MORF4L1 0 genome.wustl.edu 37 15 79189830 79189830 + RNA SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 79189830 79189830 G T SNP MORF4L1 ENST00000561171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MORF4L1 HGNC ENSG00000185787 tier1 - - 86 0 0.00 50 7 12.28 MROH2B 0 genome.wustl.edu 37 5 41015519 41015519 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 41015519 41015519 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known silent c.2946 p.V982 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 38 0 0.00 47 4 7.84 MRPL47 0 genome.wustl.edu 37 3 179322325 179322325 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 179322325 179322325 C A SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.88 p.A30S 0.002 NULL pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 tier1 - - 33 0 0.00 35 4 10.26 MST1 0 genome.wustl.edu 37 3 49725034 49725034 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 49725034 49725034 T A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.310 p.T104S 0.009 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 tier1 rs142964215 - 66 0 0.00 34 8 19.05 MST1 0 genome.wustl.edu 37 3 49725038 49725038 + Silent SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 49725038 49725038 G C SNP MST1 ENST00000449682 human ensembl 74_37 -1 known silent c.306 p.P102 0.001 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 tier1 rs116125078 - 66 0 0.00 34 8 19.05 MT-CO2 0 genome.wustl.edu 37 MT 8009 8009 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a MT 8009 8009 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.424 p.V142M NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 rs199474826 - 87 0 0.00 76 26 25.49 MTR 0 genome.wustl.edu 37 1 237060945 237060946 + RNA INS - - T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 237060945 237060946 - T INS MTR ENST00000470570 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.000 - - - no_errors MTR HGNC ENSG00000116984 tier1 44 0 0.00 30 5 14.29 MYH7B 0 genome.wustl.edu 37 20 33567245 33567245 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 33567245 33567245 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel silent c.270 p.E90 0.999 pfam_Myosin_N,superfamily_Myosin_S1_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 49 0 0.00 39 11 22.00 MYH9 0 genome.wustl.edu 37 22 36690174 36690174 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 22 36690174 36690174 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.3801 p.V1267 1.000 pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 25 0 0.00 13 11 45.83 NCAM2 0 genome.wustl.edu 37 21 22841014 22841014 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 21 22841014 22841014 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1806 p.Q602H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 28 0 0.00 34 2 5.41 NLRP3 0 genome.wustl.edu 37 1 247588559 247588559 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 247588559 247588559 G T SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1814 p.R605M 0.250 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 44 0 0.00 56 3 5.08 NOTCH1 0 genome.wustl.edu 37 9 139407900 139407900 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 139407900 139407900 C G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.2297 p.G766A 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 69 0 0.00 16 17 51.52 NOTCH1 0 genome.wustl.edu 37 9 139407924 139407925 + Frame_Shift_Del DEL TC TC - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 139407924 139407925 TC - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.2273_2272 p.E758fs 1.000:1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 70 0 0.00 23 19 45.24 NOX3 0 genome.wustl.edu 37 6 155743924 155743924 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 155743924 155743924 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.1212 p.C404 0.999 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 60 0 0.00 29 2 6.45 NPR2 0 genome.wustl.edu 37 9 35807138 35807138 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 35807138 35807138 A T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.2638 p.M880L 0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 - - 21 0 0.00 9 10 52.63 NR1H3 0 genome.wustl.edu 37 11 47282123 47282123 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 47282123 47282123 C T SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known silent c.396 p.Y132 0.221 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 tier1 - - 36 0 0.00 26 9 25.00 NRXN3 0 genome.wustl.edu 37 14 79111726 79111726 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 79111726 79111726 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1015 p.A339T 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 rs201052888 - 46 0 0.00 28 7 20.00 NSRP1 0 genome.wustl.edu 37 17 28512218 28512218 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 28512218 28512218 G T SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known missense c.1203 p.Q401H 0.000 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 tier1 - - 18 0 0.00 8 3 27.27 OR4K5 0 genome.wustl.edu 37 14 20389443 20389443 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 20389443 20389443 G T SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.678 p.W226C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 tier1 - - 80 0 0.00 51 15 22.73 OR4K5 0 genome.wustl.edu 37 14 20389444 20389444 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 20389444 20389444 C T SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.679 p.L227F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 tier1 - - 81 0 0.00 49 15 23.08 P2RX4 0 genome.wustl.edu 37 12 121647986 121647986 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 121647986 121647986 G T SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.19 p.A7S 0.002 prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 tier1 - - 17 0 0.00 5 8 61.54 PAPOLG 0 genome.wustl.edu 37 2 61009902 61009902 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 61009902 61009902 A G SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.1109 p.Y370C 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,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 PAPOLG HGNC ENSG00000115421 tier1 - - 32 0 0.00 24 13 35.14 PCDHA1 0 genome.wustl.edu 37 5 140168121 140168121 + Nonsense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 140168121 140168121 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known nonsense c.2246 p.S749* 0.941 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 58 0 0.00 36 22 37.93 PCLO 0 genome.wustl.edu 37 7 82580258 82580258 + Missense_Mutation SNP A A C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 82580258 82580258 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9646 p.L3216V 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 35 0 0.00 20 15 42.86 PCM1 0 genome.wustl.edu 37 8 17817936 17817936 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 17817936 17817936 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.2305 p.A769T 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 40 0 0.00 19 3 13.64 PCNXL4 0 genome.wustl.edu 37 14 60574805 60574805 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 60574805 60574805 C T SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.449 p.A150V 0.021 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 tier1 - - 41 0 0.00 16 12 42.86 PDS5B 0 genome.wustl.edu 37 13 33338643 33338643 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 13 33338643 33338643 A G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.3535 p.M1179V 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 57 0 0.00 49 31 38.75 PEX7 0 genome.wustl.edu 37 6 137191072 137191072 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 137191072 137191072 G T SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known missense c.678 p.W226C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 tier1 - - 87 0 0.00 58 4 6.35 PIK3CB 0 genome.wustl.edu 37 3 138400822 138400822 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 138400822 138400822 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.2491 p.G831S 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 tier1 - - 40 0 0.00 46 6 11.54 PKHD1L1 0 genome.wustl.edu 37 8 110466969 110466969 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 110466969 110466969 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.6762 p.S2254 0.826 pfam_G8_domain pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 69 0 0.00 107 7 6.14 PLEKHH1 0 genome.wustl.edu 37 14 68038605 68038605 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 68038605 68038605 G A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.1571 p.R524Q 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 tier1 - - 21 0 0.00 24 11 31.43 PLG 0 genome.wustl.edu 37 6 161152209 161152209 + Silent SNP T T G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 161152209 161152209 T G SNP PLG ENST00000308192 human ensembl 74_37 +1 known silent c.1383 p.V461 0.000 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 - - 55 0 0.00 32 9 21.95 PLXNC1 0 genome.wustl.edu 37 12 94691141 94691141 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 94691141 94691141 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.4016 p.R1339Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 45 0 0.00 37 2 5.13 PNPLA6 0 genome.wustl.edu 37 19 7622121 7622121 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 7622121 7622121 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.3378 p.P1126 0.844 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 89 0 0.00 43 37 46.25 PPAP2A 0 genome.wustl.edu 37 5 54771153 54771153 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 54771153 54771153 T C SNP PPAP2A ENST00000307259 human ensembl 74_37 -1 known missense c.184 p.I62V 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2A HGNC ENSG00000067113 tier1 - - 45 0 0.00 12 9 42.86 PPP2CA 0 genome.wustl.edu 37 5 133537546 133537546 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 5 133537546 133537546 T C SNP PPP2CA ENST00000481195 human ensembl 74_37 -1 known missense c.479 p.D160G 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 tier1 - - 44 0 0.00 40 17 29.82 PRDX2 0 genome.wustl.edu 37 19 12910723 12910723 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 12910723 12910723 T A SNP PRDX2 ENST00000301522 human ensembl 74_37 -1 known missense c.461 p.E154V 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 tier1 - - 69 0 0.00 24 19 44.19 PROM2 0 genome.wustl.edu 37 2 95940353 95940353 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 95940353 95940353 T A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.20 p.L7Q 0.035 NULL pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 tier1 - - 73 0 0.00 61 19 23.75 PRR12 0 genome.wustl.edu 37 19 50128144 50128144 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 50128144 50128144 G T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.5765 p.G1922V 0.972 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 33 0 0.00 22 4 15.38 PRR23A 0 genome.wustl.edu 37 3 138724597 138724597 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 138724597 138724597 C T SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.514 p.A172T 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 35 0 0.00 25 13 34.21 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 30 0 0.00 21 2 8.70 PTPN11 0 genome.wustl.edu 37 12 112891121 112891121 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 112891121 112891121 G T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.455 p.R152L 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 38 0 0.00 36 2 5.26 RAVER1 0 genome.wustl.edu 37 19 10439506 10439506 + Missense_Mutation SNP T T G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 10439506 10439506 T G SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known missense c.619 p.K207Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 - - 170 0 0.00 79 57 41.91 RAVER2 0 genome.wustl.edu 37 1 65268698 65268698 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 65268698 65268698 A G SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.1145 p.N382S 0.847 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 tier1 - - 56 0 0.00 25 10 28.57 REG3G 0 genome.wustl.edu 37 2 79253229 79253229 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 79253229 79253229 C G SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.10 p.P4A 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 101 0 0.00 51 33 39.29 REG3G 0 genome.wustl.edu 37 2 79253939 79253939 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 79253939 79253939 A T SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.177 p.K59N 0.065 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 45 0 0.00 24 21 46.67 REL 0 genome.wustl.edu 37 2 61149071 61149071 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 61149071 61149071 C T SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.1261 p.R421C 0.290 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 tier1 - - 38 0 0.00 29 14 32.56 RGAG1 0 genome.wustl.edu 37 X 109697615 109697615 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a X 109697615 109697615 T C SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.3770 p.L1257P 0.954 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 21 0 0.00 14 3 17.65 RGL2 0 genome.wustl.edu 37 6 33264024 33264024 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 33264024 33264024 G C SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.549 p.D183E 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 tier1 - - 55 0 0.00 21 19 47.50 ROM1 0 genome.wustl.edu 37 11 62381901 62381901 + Missense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 62381901 62381901 T A SNP ROM1 ENST00000278833 human ensembl 74_37 +1 known missense c.762 p.H254Q 0.003 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 tier1 - - 24 0 0.00 8 11 57.89 ROS1 0 genome.wustl.edu 37 6 117609724 117609724 + Silent SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 117609724 117609724 A T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.6975 p.P2325 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 111 0 0.00 61 18 22.78 RPA3-AS1 0 genome.wustl.edu 37 7 7713025 7713025 + RNA SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 7713025 7713025 C A SNP RPA3-AS1 ENST00000463725 human ensembl 74_37 +1 known rna NULL NULL 0.193 - - - no_errors RPA3-AS1 HGNC ENSG00000219545 tier1 - - 94 0 0.00 85 33 27.97 RPN2 0 genome.wustl.edu 37 20 35827502 35827502 + Missense_Mutation SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 35827502 35827502 A T SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.353 p.E118V 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 tier1 - - 52 0 0.00 33 26 44.07 RRBP1 0 genome.wustl.edu 37 20 17639256 17639256 + Nonsense_Mutation SNP T T A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 17639256 17639256 T A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known nonsense c.1897 p.K633* 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 69 0 0.00 25 24 48.98 RUNX1T1 0 genome.wustl.edu 37 8 93017523 93017523 + Silent SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 93017523 93017523 G T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.594 p.A198 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 26 0 0.00 24 8 25.00 S100A11 0 genome.wustl.edu 37 1 152005018 152005018 + RNA SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 152005018 152005018 T C SNP S100A11 ENST00000478109 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A11 HGNC ENSG00000163191 tier1 - - 33 0 0.00 34 6 15.00 SALL1 0 genome.wustl.edu 37 16 51173964 51173964 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 51173964 51173964 C A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2169 p.M723I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 71 0 0.00 15 22 59.46 SAP130 0 genome.wustl.edu 37 2 128712725 128712725 + Missense_Mutation SNP T T C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 128712725 128712725 T C SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.2335 p.I779V 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 44 0 0.00 38 15 28.30 SART3 0 genome.wustl.edu 37 12 108923976 108923976 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 108923976 108923976 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1858 p.P620S 0.008 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 30 0 0.00 6 18 75.00 SATL1 0 genome.wustl.edu 37 X 84363348 84363348 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a X 84363348 84363348 G T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.627 p.S209R 0.019 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 66 0 0.00 34 42 55.26 SCAP 0 genome.wustl.edu 37 3 47469124 47469124 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 3 47469124 47469124 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known silent c.444 p.L148 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 45 0 0.00 24 4 14.29 SCYL1 0 genome.wustl.edu 37 11 65293808 65293808 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 11 65293808 65293808 G T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.589 p.V197F 0.002 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 33 0 0.00 32 7 17.95 SEMA3D 0 genome.wustl.edu 37 7 84670056 84670056 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 84670056 84670056 C G SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.979 p.D327H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 48 0 0.00 29 8 21.62 SEPHS1 0 genome.wustl.edu 37 10 13364865 13364865 + Missense_Mutation SNP G G C TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 13364865 13364865 G C SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.934 p.L312V 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 tier1 - - 34 0 0.00 24 13 35.14 SHROOM3 0 genome.wustl.edu 37 4 77691999 77691999 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 77691999 77691999 G T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5570 p.R1857L 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 30 0 0.00 14 2 12.50 SIPA1L1 0 genome.wustl.edu 37 14 72055491 72055491 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 72055491 72055491 A G SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.902 p.N301S 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 39 0 0.00 15 2 11.76 SLC16A6P1 0 genome.wustl.edu 37 17 62950487 62950487 + RNA SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 62950487 62950487 A T SNP SLC16A6P1 ENST00000577423 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors SLC16A6P1 HGNC ENSG00000232457 tier1 - - 87 0 0.00 85 26 23.42 SLC22A7 0 genome.wustl.edu 37 6 43266909 43266909 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 43266909 43266909 G A SNP SLC22A7 ENST00000498232 human ensembl 74_37 +1 known missense c.473 p.G158D 0.000 NULL NULL - no_errors SLC22A7 HGNC ENSG00000137204 tier1 - - 34 0 0.00 38 5 11.63 SLC29A1 0 genome.wustl.edu 37 6 44199101 44199101 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 44199101 44199101 G T SNP SLC29A1 ENST00000313248 human ensembl 74_37 +1 known missense c.1004 p.G335V 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 tier1 - - 127 0 0.00 42 29 40.85 SLC7A6 0 genome.wustl.edu 37 16 68325543 68325543 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 68325543 68325543 C A SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.1001 p.A334E 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 tier1 - - 135 0 0.00 63 4 5.88 SOCS6 0 genome.wustl.edu 37 18 67993381 67993381 + Silent SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 18 67993381 67993381 C A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known silent c.1477 p.R493 0.997 smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 85 0 0.00 37 2 5.00 SP1 0 genome.wustl.edu 37 12 53800472 53800472 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 53800472 53800472 C T SNP SP1 ENST00000327443 human ensembl 74_37 +1 known silent c.1779 p.P593 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 tier1 - - 48 0 0.00 24 22 47.83 SPACA7 0 genome.wustl.edu 37 13 113055455 113055455 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 13 113055455 113055455 G T SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known missense c.422 p.S141I 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 tier1 - - 67 0 0.00 71 4 5.33 SPATS2L 0 genome.wustl.edu 37 2 201281148 201281148 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 201281148 201281148 G T SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.285 p.K95N 1.000 pfam_DUF1387,superfamily_UBA-like pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 tier1 - - 60 0 0.00 44 11 20.00 SRSF11 0 genome.wustl.edu 37 1 70716996 70716996 + RNA SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 1 70716996 70716996 A G SNP SRSF11 ENST00000461935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 tier1 - - 93 0 0.00 45 16 26.23 SSFA2 0 genome.wustl.edu 37 2 182766967 182766967 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 182766967 182766967 G T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.1187 p.S396I 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 30 0 0.00 35 4 10.26 STK39 0 genome.wustl.edu 37 2 168811130 168811130 + RNA SNP T T G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 2 168811130 168811130 T G SNP STK39 ENST00000487143 human ensembl 74_37 -1 known rna NULL NULL 0.937 - - - no_errors STK39 HGNC ENSG00000198648 tier1 - - 29 0 0.00 11 15 57.69 STL 0 genome.wustl.edu 37 6 125269130 125269130 + RNA SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 125269130 125269130 G T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 - - 28 0 0.00 19 3 13.64 SYNE3 0 genome.wustl.edu 37 14 95932472 95932472 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 95932472 95932472 C A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.423 p.E141D 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 58 0 0.00 36 17 32.08 TAS2R7 0 genome.wustl.edu 37 12 10954348 10954348 + Silent SNP A A T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 12 10954348 10954348 A T SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known silent c.822 p.A274 0.002 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 tier1 - - 35 0 0.00 26 5 16.13 TCAM1P 0 genome.wustl.edu 37 17 61939715 61939715 + RNA SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 61939715 61939715 C A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors TCAM1P HGNC ENSG00000240280 51 0 0.00 34 4 10.53 TCAM1P 0 genome.wustl.edu 37 17 61939720 61939720 + RNA SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 61939720 61939720 G A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors TCAM1P HGNC ENSG00000240280 49 0 0.00 32 5 13.51 TFPT 0 genome.wustl.edu 37 19 54617971 54617971 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 54617971 54617971 C T SNP TFPT ENST00000391759 human ensembl 74_37 -1 known missense c.133 p.V45M 1.000 NULL NULL - no_errors TFPT HGNC ENSG00000105619 tier1 - - 35 0 0.00 11 15 57.69 TMCO3 0 genome.wustl.edu 37 13 114201522 114201522 + RNA SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 13 114201522 114201522 A G SNP TMCO3 ENST00000491166 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMCO3 HGNC ENSG00000150403 tier1 - - 50 0 0.00 34 17 33.33 TMEM260 0 genome.wustl.edu 37 14 57113980 57113980 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 14 57113980 57113980 A G SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.1889 p.Y630C 0.001 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 tier1 rs61739407 - 28 0 0.00 11 8 42.11 TMPRSS11A 0 genome.wustl.edu 37 4 68812229 68812229 + Silent SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 68812229 68812229 A G SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known silent c.72 p.I24 0.000 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 - - 34 0 0.00 8 5 38.46 TNFSF12-TNFSF13 0 genome.wustl.edu 37 17 7452584 7452584 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 7452584 7452584 G A SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 74_37 +1 known silent c.114 p.L38 1.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 11 0 0.00 4 3 42.86 TOX3 0 genome.wustl.edu 37 16 52473564 52473564 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 52473564 52473564 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.1304 p.S435L 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 91 0 0.00 56 3 5.08 TP53 0 genome.wustl.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 7578457 7578457 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.473 p.R158L 0.989 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 - - 409 0 0.00 160 204 56.04 TRIM38 0 genome.wustl.edu 37 6 25983525 25983525 + Silent SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 6 25983525 25983525 C G SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known silent c.1008 p.V336 0.993 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 tier1 - - 121 0 0.00 56 27 32.53 TSHZ2 0 genome.wustl.edu 37 20 51872057 51872057 + Missense_Mutation SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 20 51872057 51872057 C T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2060 p.P687L 0.236 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 18 0 0.00 19 3 13.64 USP46 0 genome.wustl.edu 37 4 53476753 53476753 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 4 53476753 53476753 G T SNP USP46 ENST00000441222 human ensembl 74_37 -1 known missense c.592 p.L198I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 tier1 - - 34 0 0.00 22 3 12.00 VAC14 0 genome.wustl.edu 37 16 70796868 70796868 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 70796868 70796868 G T SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known missense c.1221 p.H407Q 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 73 0 0.00 51 4 7.27 VSIG4 0 genome.wustl.edu 37 X 65259808 65259808 + Silent SNP C C T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a X 65259808 65259808 C T SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known silent c.33 p.G11 0.065 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 tier1 - - 35 0 0.00 7 27 79.41 WDR81 0 genome.wustl.edu 37 17 1637328 1637328 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 17 1637328 1637328 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4997 p.G1666D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 54 0 0.00 35 4 10.26 ZC3H18 0 genome.wustl.edu 37 16 88694049 88694049 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 16 88694049 88694049 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2128 p.V710I 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 65 0 0.00 24 26 52.00 ZCCHC7 0 genome.wustl.edu 37 9 37357249 37357250 + Frame_Shift_Ins INS - - A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 9 37357249 37357250 0 A INS ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known frame_shift_ins c.1616_1617 p.K543fs 1.000:1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 14 0 0.00 5 3 37.50 ZNF211 0 genome.wustl.edu 37 19 58153099 58153099 + Missense_Mutation SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 58153099 58153099 C A SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.1284 p.H428Q 0.005 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 ZNF211 HGNC ENSG00000121417 tier1 - - 52 0 0.00 8 18 69.23 ZNF285 0 genome.wustl.edu 37 19 44891003 44891003 + Silent SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 44891003 44891003 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.1404 p.S468 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 ZNF285 HGNC ENSG00000267508 tier1 rs201302972 - 61 0 0.00 29 5 14.71 ZNF485 0 genome.wustl.edu 37 10 44112021 44112021 + Missense_Mutation SNP A A G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 10 44112021 44112021 A G SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known missense c.530 p.H177R 0.457 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 ZNF485 HGNC ENSG00000198298 tier1 - - 41 0 0.00 22 14 38.89 ZNF551 0 genome.wustl.edu 37 19 58199504 58199504 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 19 58199504 58199504 G T SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.1861 p.G621W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 53 0 0.00 23 3 11.54 ZNF592 0 genome.wustl.edu 37 15 85345259 85345259 + Missense_Mutation SNP C C G TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 15 85345259 85345259 C G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.3439 p.Q1147E 0.953 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 87 0 0.00 16 35 67.31 ZNF696 0 genome.wustl.edu 37 8 144378416 144378416 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 8 144378416 144378416 G T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known missense c.571 p.G191C 0.154 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 tier1 - - 41 0 0.00 44 10 18.52 ZNF727 0 genome.wustl.edu 37 7 63537695 63537695 + Missense_Mutation SNP G G A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a03ef5d0-0cf8-4303-941f-4e3045612671 be17983e-aeb5-495e-a39c-6bf4aa0baf9a 7 63537695 63537695 G A SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.268 p.D90N 0.080 NULL 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 ZNF727 HGNC ENSG00000257482 tier1 - - 24 0 0.00 22 12 35.29