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 ABCA9 0 genome.wustl.edu 37 17 67031410 67031410 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 67031410 67031410 C T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.1105 p.A369T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 - - 68 0 0.00 46 21 30.88 ACOT12 0 genome.wustl.edu 37 5 80689819 80689819 + Frame_Shift_Del DEL C C - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 80689819 80689819 C - DEL ACOT12 ENST00000307624 human ensembl 74_37 -1 known frame_shift_del c.115 p.A39fs 1.000 pfam_Thioestr_supf pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 tier1 12 0 0.00 4 2 33.33 ADAMTS10 0 genome.wustl.edu 37 19 8665978 8665978 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 8665978 8665978 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.644 p.P215L 0.591 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 tier1 - - 90 0 0.00 51 21 29.17 ADCY8 0 genome.wustl.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 131916177 131916177 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1752 p.T584 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 145 0 0.00 158 43 21.39 AIPL1 0 genome.wustl.edu 37 17 6329967 6329967 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 6329967 6329967 T A SNP AIPL1 ENST00000381129 human ensembl 74_37 -1 known missense c.752 p.E251V 1.000 pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 tier1 - - 55 0 0.00 27 4 12.90 ANKRD26 0 genome.wustl.edu 37 10 27382637 27382637 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 27382637 27382637 C T SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.334 p.E112K 0.285 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 91 0 0.00 114 24 17.39 ARIH2 0 genome.wustl.edu 37 3 48965115 48965115 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 48965115 48965115 G T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.124 p.V42L 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 42 0 0.00 27 15 35.71 ASAP2 0 genome.wustl.edu 37 2 9525431 9525431 + Nonsense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 9525431 9525431 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known nonsense c.2074 p.R692* 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 77 0 0.00 58 21 26.58 ASPM 0 genome.wustl.edu 37 1 197069766 197069766 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 197069766 197069766 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8615 p.T2872M 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 rs142176273 - 54 0 0.00 69 18 20.69 ASRGL1 0 genome.wustl.edu 37 11 62159051 62159051 + Frame_Shift_Del DEL A A - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 62159051 62159051 A - DEL ASRGL1 ENST00000301776 human ensembl 74_37 +1 known frame_shift_del c.668 p.S224fs 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 tier1 17 0 0.00 29 2 6.45 ATP2B4 0 genome.wustl.edu 37 1 203669982 203669982 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 203669982 203669982 T C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.832 p.S278P 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 79 0 0.00 106 11 9.40 ATP8B4 0 genome.wustl.edu 37 15 50189559 50189559 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 50189559 50189559 A G SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.2627 p.F876S 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8B4 HGNC ENSG00000104043 tier1 - - 324 0 0.00 272 16 5.56 ATP9B 0 genome.wustl.edu 37 18 77134098 77134098 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 77134098 77134098 T A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.3271 p.F1091I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 tier1 - - 38 0 0.00 26 12 31.58 ATRX 0 genome.wustl.edu 37 X 76907602 76907602 + Splice_Site SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 X 76907602 76907602 A C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site c.4557+2 e15+2 1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 204 0 0.00 99 53 34.64 BCL9 0 genome.wustl.edu 37 1 147091941 147091941 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 147091941 147091941 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.1980 p.R660 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 82 0 0.00 82 38 31.40 BRF1 0 genome.wustl.edu 37 14 105752690 105752690 + Missense_Mutation SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 105752690 105752690 C G SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.208 p.G70R 0.990 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 tier1 - - 29 0 0.00 14 9 39.13 CALCRL 0 genome.wustl.edu 37 2 188243688 188243688 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 188243688 188243688 A T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.479 p.L160H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 tier1 - - 133 0 0.00 111 46 29.30 CATSPERD 0 genome.wustl.edu 37 19 5772830 5772830 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 5772830 5772830 G A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.1795 p.D599N 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 184 0 0.00 85 95 52.78 CBLN4 0 genome.wustl.edu 37 20 54575874 54575874 + Silent SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 54575874 54575874 T A SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known silent c.321 p.T107 0.016 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 tier1 - - 121 0 0.00 136 22 13.92 CCDC135 0 genome.wustl.edu 37 16 57741405 57741405 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 57741405 57741405 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.892 p.G298S 0.997 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 tier1 - - 84 0 0.00 33 19 36.54 CCDC60 0 genome.wustl.edu 37 12 119943017 119943017 + Silent SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 119943017 119943017 C A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known silent c.792 p.P264 0.030 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 294 0 0.00 126 133 51.35 CCDC85A 0 genome.wustl.edu 37 2 56420319 56420319 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 56420319 56420319 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known silent c.984 p.H328 0.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 147 0 0.00 140 77 35.32 CD300C 0 genome.wustl.edu 37 17 72541894 72541894 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 72541894 72541894 G A SNP CD300C ENST00000330793 human ensembl 74_37 -1 known missense c.28 p.R10W 0.183 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 tier1 rs141778260 - 23 0 0.00 12 6 33.33 CDKN2B 0 genome.wustl.edu 37 9 22008917 22008918 + Frame_Shift_Ins INS - - C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 22008917 22008918 - C INS CDKN2B ENST00000276925 human ensembl 74_37 -1 known frame_shift_ins c.36_35 p.G13fs 0.584:0.587 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2B HGNC ENSG00000147883 tier1 66 0 0.00 19 2 9.52 CDS2 0 genome.wustl.edu 37 20 5169758 5169758 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 5169758 5169758 T C SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.1027 p.S343P 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 tier1 - - 162 0 0.00 85 98 53.55 CDS2 0 genome.wustl.edu 37 20 5169759 5169759 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 5169759 5169759 C T SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.1028 p.S343F 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 tier1 - - 162 0 0.00 87 96 52.46 CKAP2L 0 genome.wustl.edu 37 2 113514012 113514012 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 113514012 113514012 T A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.936 p.R312S 0.005 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 tier1 - - 109 0 0.00 89 34 27.64 CNST 0 genome.wustl.edu 37 1 246754904 246754904 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 246754904 246754904 G C SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.40 p.E14Q 0.979 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 100 0 0.00 140 14 9.09 CNTN3 0 genome.wustl.edu 37 3 74347290 74347290 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 74347290 74347290 A T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2219 p.F740Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 69 0 0.00 49 6 10.91 COL6A3 0 genome.wustl.edu 37 2 238249500 238249500 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 238249500 238249500 A C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8059 p.F2687V 0.010 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 81 0 0.00 79 22 21.78 CPSF2 0 genome.wustl.edu 37 14 92601793 92601795 + In_Frame_Del DEL AGA AGA - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 92601793 92601795 AGA - DEL CPSF2 ENST00000298875 human ensembl 74_37 +1 known in_frame_del c.498_500 p.E169in_frame_del 0.997:1.000:1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 tier1 89 0 0.00 75 22 22.68 CRB2 0 genome.wustl.edu 37 9 126132659 126132659 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 126132659 126132659 G C SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.1327 p.V443L 0.376 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 tier1 - - 103 0 0.00 90 16 15.09 CTNNA3 0 genome.wustl.edu 37 10 69366706 69366706 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 69366706 69366706 C A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.201 p.W67C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 105 0 0.00 151 28 15.64 CTNNB1 0 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 41266097 41266097 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.94 p.D32H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 rs28931588 - 44 0 0.00 28 16 36.36 CUBN 0 genome.wustl.edu 37 10 16893327 16893327 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 16893327 16893327 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9570 p.I3190M 0.002 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 86 0 0.00 108 24 18.18 CYP11B1 0 genome.wustl.edu 37 8 143958622 143958622 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 143958622 143958622 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.412 p.R138C 0.995 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_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 28 0 0.00 20 15 42.86 DEPDC5 0 genome.wustl.edu 37 22 32215101 32215101 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 22 32215101 32215101 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1760 p.R587L 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 203 0 0.00 99 48 32.65 DOCK3 0 genome.wustl.edu 37 3 51399383 51399383 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 51399383 51399383 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.5100 p.D1700 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 19 0 0.00 16 5 23.81 DPP8 0 genome.wustl.edu 37 15 65756155 65756155 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 65756155 65756155 C T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.1963 p.D655N 1.000 pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 tier1 - - 89 0 0.00 70 13 15.66 DPYSL5 0 genome.wustl.edu 37 2 27157486 27157486 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 27157486 27157486 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.831 p.T277 0.058 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 291 0 0.00 106 147 58.10 E2F5 0 genome.wustl.edu 37 8 86126071 86126071 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 86126071 86126071 T G SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known missense c.1018 p.F340V 1.000 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 77 0 0.00 86 18 17.31 EEFSEC 0 genome.wustl.edu 37 3 127983461 127983461 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 127983461 127983461 T G SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.623 p.L208R 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 204 0 0.00 95 35 26.92 ENSG00000266963 0 genome.wustl.edu 37 19 38852991 38852991 + RNA SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 38852991 38852991 C A SNP ENSG00000266963 ENST00000590304 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005625.1 Clone_based_vega_gene ENSG00000266963 tier1 - - 146 0 0.00 75 30 28.57 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 tier1 25 0 0.00 30 6 16.67 EPB41L3 0 genome.wustl.edu 37 18 5398078 5398078 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 5398078 5398078 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2414 p.A805V 0.999 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 404 0 0.00 346 120 25.75 EPG5 0 genome.wustl.edu 37 18 43535237 43535237 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 43535237 43535237 C A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.131 p.R44I 0.010 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 74 0 0.00 72 11 13.25 EPHB1 0 genome.wustl.edu 37 3 134670439 134670439 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 134670439 134670439 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.350 p.T117I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 95 0 0.00 65 8 10.96 FAM189B 0 genome.wustl.edu 37 1 155217734 155217734 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 155217734 155217734 G T SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.1846 p.L616M 0.970 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 tier1 - - 29 0 0.00 42 6 12.50 FBXL3 0 genome.wustl.edu 37 13 77581388 77581388 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 77581388 77581388 C T SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known missense c.1179 p.M393I 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 tier1 - - 130 0 0.00 86 28 24.56 FCGBP 0 genome.wustl.edu 37 19 40366185 40366185 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 40366185 40366185 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.14049 p.G4683 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 99 0 0.00 47 26 35.62 FER1L6 0 genome.wustl.edu 37 8 124992960 124992960 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 124992960 124992960 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1319 p.A440V 0.067 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 82 0 0.00 92 19 17.12 FGFR4 0 genome.wustl.edu 37 5 176517594 176517594 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 176517594 176517594 T C SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.295 p.Y99H 0.995 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 76 0 0.00 18 12 40.00 FOXA3 0 genome.wustl.edu 37 19 46375695 46375695 + Nonsense_Mutation SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 46375695 46375695 C G SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known nonsense c.432 p.Y144* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 tier1 - - 264 0 0.00 162 14 7.95 FREM2 0 genome.wustl.edu 37 13 39438623 39438623 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 39438623 39438623 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.7863 p.S2621 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 185 0 0.00 24 129 84.31 FZD7 0 genome.wustl.edu 37 2 202900917 202900917 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 202900917 202900917 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.1547 p.P516L 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 tier1 - - 171 0 0.00 115 35 23.33 GABRG2 0 genome.wustl.edu 37 5 161580118 161580118 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 161580118 161580118 G T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.1172 p.R391L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg2_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 tier1 - - 119 0 0.00 40 26 39.39 GAD2 0 genome.wustl.edu 37 10 26506587 26506587 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 26506587 26506587 A C SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.125 p.N42T 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 23 0 0.00 32 10 23.81 GAK 0 genome.wustl.edu 37 4 858996 858996 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 858996 858996 G A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.3080 p.S1027L 0.980 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 tier1 - - 74 0 0.00 42 16 27.59 GHR 0 genome.wustl.edu 37 5 42719504 42719504 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 42719504 42719504 A C SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.1895 p.Q632P 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 144 0 0.00 182 11 5.70 GOLGA2 0 genome.wustl.edu 37 9 131019452 131019452 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 131019452 131019452 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2903 p.R968H 0.004 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 - - 133 0 0.00 161 43 21.08 GPR179 0 genome.wustl.edu 37 17 36486448 36486448 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 36486448 36486448 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.3004 p.A1002S 0.300 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 94 0 0.00 60 6 9.09 HCN4 0 genome.wustl.edu 37 15 73614941 73614941 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 73614941 73614941 G T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.3493 p.L1165M 0.002 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 22 0 0.00 4 14 77.78 HEATR1 0 genome.wustl.edu 37 1 236718952 236718952 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 236718952 236718952 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5653 p.D1885N 0.996 pfam_BP28_C_dom,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 80 0 0.00 83 17 17.00 HMGN5 0 genome.wustl.edu 37 X 80377175 80377176 + RNA INS - - A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 X 80377175 80377176 - A INS HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 tier1 18 0 0.00 14 2 12.50 ILK 0 genome.wustl.edu 37 11 6629388 6629388 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 6629388 6629388 G A SNP ILK ENST00000299421 human ensembl 74_37 +1 known missense c.202 p.D68N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 tier1 - - 82 0 0.00 67 26 27.96 INF2 0 genome.wustl.edu 37 14 105169749 105169749 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 105169749 105169749 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.625 p.E209K 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 227 0 0.00 78 27 25.71 IQCC 0 genome.wustl.edu 37 1 32672180 32672180 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 32672180 32672180 A T SNP IQCC ENST00000537469 human ensembl 74_37 +1 known missense c.497 p.H166L 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 tier1 - - 146 0 0.00 149 8 5.10 ITGA10 0 genome.wustl.edu 37 1 145532351 145532351 + RNA SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 145532351 145532351 G T SNP ITGA10 ENST00000481236 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 30 0 0.00 41 12 22.64 ITGA4 0 genome.wustl.edu 37 2 182394271 182394271 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 182394271 182394271 A G SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.2434 p.I812V 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 83 0 0.00 63 15 19.23 JAKMIP1 0 genome.wustl.edu 37 4 6083437 6083437 + Nonsense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 6083437 6083437 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known nonsense c.1000 p.E334* 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 81 0 0.00 44 28 38.89 KCNV1 0 genome.wustl.edu 37 8 110984808 110984808 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 110984808 110984808 T G SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.670 p.I224L 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 86 0 0.00 81 8 8.99 KDELC1 0 genome.wustl.edu 37 13 103443378 103443378 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 103443378 103443378 A T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.956 p.L319Q 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 83 0 0.00 77 25 24.51 KIF4B 0 genome.wustl.edu 37 5 154393634 154393634 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 154393634 154393634 T A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.215 p.L72H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 104 0 0.00 41 43 51.19 KIRREL 0 genome.wustl.edu 37 1 158061169 158061169 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158061169 158061169 T G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1342 p.F448V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 113 0 0.00 43 93 68.38 KRT12 0 genome.wustl.edu 37 17 39021123 39021123 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 39021123 39021123 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.742 p.D248N 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 rs150674571 - 200 0 0.00 77 46 37.40 LIMD1 0 genome.wustl.edu 37 3 45637009 45637009 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 45637009 45637009 G T SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.638 p.G213V 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 tier1 - - 65 0 0.00 68 5 6.85 LRIT2 0 genome.wustl.edu 37 10 85981706 85981706 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 85981706 85981706 C A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1653 p.K551N 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 222 0 0.00 271 47 14.78 MGAM 0 genome.wustl.edu 37 7 141770793 141770793 + Splice_Site SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 7 141770793 141770793 G A SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative splice_site c.5062-1 e43-1 0.998 - - - no_errors MGAM HGNC ENSG00000257335 tier1 - - 78 0 0.00 37 19 33.93 MICA 0 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 31380161 31380161 G - DEL MICA ENST00000449934 human ensembl 74_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 tier1 11 0 0.00 5 4 44.44 MPEG1 0 genome.wustl.edu 37 11 58979598 58979598 + Silent SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 58979598 58979598 G C SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.741 p.T247 0.021 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 tier1 - - 48 0 0.00 31 8 20.51 MSL1 0 genome.wustl.edu 37 17 38285676 38285676 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 38285676 38285676 C T SNP MSL1 ENST00000398532 human ensembl 74_37 +1 known missense c.1171 p.R391W 1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 tier1 - - 88 0 0.00 47 30 38.96 MYH4 0 genome.wustl.edu 37 17 10358965 10358965 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 10358965 10358965 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2140 p.P714S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 69 0 0.00 38 23 37.70 MYO6 0 genome.wustl.edu 37 6 76551089 76551089 + Silent SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 76551089 76551089 T C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known silent c.810 p.N270 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 29 0 0.00 18 10 35.71 NAF1 0 genome.wustl.edu 37 4 164087688 164087688 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 164087688 164087688 C T SNP NAF1 ENST00000274054 human ensembl 74_37 -1 known silent c.192 p.E64 0.000 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 tier1 - - 20 0 0.00 14 8 36.36 NCK2 0 genome.wustl.edu 37 2 106497999 106497999 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 106497999 106497999 T A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.442 p.W148R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 tier1 - - 110 0 0.00 71 24 25.26 NCOA2 0 genome.wustl.edu 37 8 71044188 71044188 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 71044188 71044188 C A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3208 p.A1070S 0.142 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 27 0 0.00 18 10 35.71 NCOA6 0 genome.wustl.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 33345756 33345756 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.795 p.Q265 0.696 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 65 0 0.00 80 5 5.88 NLRC3 0 genome.wustl.edu 37 16 3614464 3614464 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 3614464 3614464 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.615 p.F205 0.832 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 104 0 0.00 49 26 34.67 NLRC5 0 genome.wustl.edu 37 16 57108564 57108564 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 57108564 57108564 C A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.4720 p.L1574I 0.167 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 443 0 0.00 180 120 40.00 NPIPA1 0 genome.wustl.edu 37 16 15023333 15023333 + RNA SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 15023333 15023333 A G SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 23 0 0.00 11 5 31.25 NUP214 0 genome.wustl.edu 37 9 134019765 134019765 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 134019765 134019765 G T SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1393 p.A465S 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 609 0 0.00 776 81 9.45 OR14K1 0 genome.wustl.edu 37 1 247902442 247902442 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 247902442 247902442 T G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.526 p.F176V 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 286 0 0.00 288 65 18.41 OXSR1 0 genome.wustl.edu 37 3 38263105 38263105 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 38263105 38263105 A G SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.527 p.D176G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 tier1 - - 146 0 0.00 64 38 37.25 OXSR1 0 genome.wustl.edu 37 3 38278446 38278446 + Silent SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 38278446 38278446 A G SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known silent c.1068 p.Q356 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 tier1 - - 132 0 0.00 71 46 39.32 PCDHA5 0 genome.wustl.edu 37 5 140202818 140202818 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 140202818 140202818 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1458 p.N486 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 208 0 0.00 91 36 28.35 PCDHB14 0 genome.wustl.edu 37 5 140604711 140604711 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 140604711 140604711 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1634 p.A545V 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 121 0 0.00 61 27 30.68 PCED1B 0 genome.wustl.edu 37 12 47629392 47629392 + Silent SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 47629392 47629392 G T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known silent c.546 p.R182 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 tier1 - - 44 0 0.00 41 9 18.00 PCF11 0 genome.wustl.edu 37 11 82877703 82877703 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 82877703 82877703 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known nonsense c.1764 p.W588* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 143 0 0.00 102 30 22.73 PCNXL2 0 genome.wustl.edu 37 1 233335973 233335973 + Silent SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 233335973 233335973 C G SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.2901 p.G967 0.904 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 13 0 0.00 7 4 36.36 PCP4L1 0 genome.wustl.edu 37 1 161254257 161254257 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 161254257 161254257 G T SNP PCP4L1 ENST00000504449 human ensembl 74_37 +1 known missense c.193 p.D65Y 1.000 NULL NULL - no_errors PCP4L1 HGNC ENSG00000248485 tier1 - - 34 0 0.00 36 5 12.20 PIGG 0 genome.wustl.edu 37 4 515679 515679 + Silent SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 515679 515679 G C SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.1563 p.V521 0.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 tier1 - - 64 0 0.00 32 27 45.76 POLR2K 0 genome.wustl.edu 37 8 101164032 101164032 + RNA SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 101164032 101164032 A T SNP POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors POLR2K HGNC ENSG00000147669 tier1 - - 29 0 0.00 31 7 18.42 POLR3E 0 genome.wustl.edu 37 16 22325003 22325003 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 22325003 22325003 G T SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.427 p.D143Y 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 tier1 - - 68 0 0.00 54 9 14.29 PPIE 0 genome.wustl.edu 37 1 40208962 40208962 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 40208962 40208962 C T SNP PPIE ENST00000324379 human ensembl 74_37 +1 known silent c.276 p.S92 1.000 pirsf_Cyclophilin-type_PPIase_E pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 tier1 - - 52 0 0.00 35 19 35.19 PTPRD 0 genome.wustl.edu 37 9 8499815 8499815 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 8499815 8499815 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.2154 p.V718 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 87 0 0.00 12 19 61.29 PYHIN1 0 genome.wustl.edu 37 1 158906861 158906861 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158906861 158906861 A G SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.161 p.E54G 0.001 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 tier1 - - 75 0 0.00 83 22 20.95 RBM14 0 genome.wustl.edu 37 11 66384208 66384208 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 66384208 66384208 G C SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.17 p.G6A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 tier1 - - 69 0 0.00 45 15 25.00 RNF19A 0 genome.wustl.edu 37 8 101277003 101277003 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 101277003 101277003 C A SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1202 p.R401L 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 tier1 - - 141 0 0.00 191 19 9.05 RNPEP 0 genome.wustl.edu 37 1 201973563 201973563 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 201973563 201973563 T G SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1733 p.I578S 0.994 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 tier1 - - 291 0 0.00 265 159 37.50 RUNDC3B 0 genome.wustl.edu 37 7 87370836 87370836 + Silent SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 7 87370836 87370836 G T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.621 p.G207 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 35 0 0.00 149 246 62.12 RUNX2 0 genome.wustl.edu 37 6 45405767 45405767 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 45405767 45405767 G C SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.868 p.D290H 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 164 0 0.00 83 52 38.52 SACM1L 0 genome.wustl.edu 37 3 45785060 45785060 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 45785060 45785060 T C SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.1663 p.F555L 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 tier1 - - 165 0 0.00 98 6 5.77 SCARA3 0 genome.wustl.edu 37 8 27516485 27516485 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 27516485 27516485 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known silent c.798 p.R266 0.000 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 tier1 - - 62 0 0.00 76 18 19.15 SEH1L 0 genome.wustl.edu 37 18 12971249 12971249 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 12971249 12971249 A T SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.619 p.R207W 1.000 superfamily_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 SEH1L HGNC ENSG00000085415 tier1 - - 62 0 0.00 57 21 26.92 SLC4A4 0 genome.wustl.edu 37 4 72433557 72433557 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 72433557 72433557 C A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.3232 p.P1078T 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 14 0 0.00 1 5 83.33 SORBS2 0 genome.wustl.edu 37 4 186545502 186545502 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 186545502 186545502 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1069 p.G357S 0.989 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 86 0 0.00 44 21 32.31 SPTA1 0 genome.wustl.edu 37 1 158607932 158607932 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158607932 158607932 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5080 p.R1694C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 91 0 0.00 79 22 21.78 SSPN 0 genome.wustl.edu 37 12 26377248 26377248 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 26377248 26377248 G T SNP SSPN ENST00000242729 human ensembl 74_37 +1 known missense c.302 p.G101V 1.000 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 tier1 - - 288 0 0.00 304 20 6.17 SSPN 0 genome.wustl.edu 37 12 26377249 26377249 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 26377249 26377249 C T SNP SSPN ENST00000242729 human ensembl 74_37 +1 known silent c.303 p.G101 0.992 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 tier1 - - 287 0 0.00 301 20 6.23 STRIP1 0 genome.wustl.edu 37 1 110586377 110586377 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 110586377 110586377 G A SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known silent c.1185 p.T395 0.002 NULL pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 tier1 - - 45 0 0.00 30 13 30.23 SYNRG 0 genome.wustl.edu 37 17 35899297 35899297 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 35899297 35899297 C T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.3417 p.L1139 0.940 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 64 0 0.00 34 27 44.26 TAF9 0 genome.wustl.edu 37 5 68660800 68660800 + Silent SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 68660800 68660800 A G SNP TAF9 ENST00000217893 human ensembl 74_37 -1 known silent c.765 p.D255 0.998 NULL pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold - no_errors TAF9 HGNC ENSG00000085231 61 0 0.00 31 2 6.06 TAOK3 0 genome.wustl.edu 37 12 118673390 118673390 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 118673390 118673390 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.524 p.A175V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 tier1 - - 68 0 0.00 59 24 28.92 TBC1D15 0 genome.wustl.edu 37 12 72288103 72288103 + Splice_Site SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 72288103 72288103 A T SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known splice_site c.658-2 e7-2 1.000 - - - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 74 0 0.00 61 27 30.68 TBX2 0 genome.wustl.edu 37 17 59482956 59482956 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 59482956 59482956 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel missense c.1445 p.P482L 0.997 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 tier1 - - 29 0 0.00 20 4 16.67 TGFBRAP1 0 genome.wustl.edu 37 2 105885782 105885782 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 105885782 105885782 G A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known nonsense c.2353 p.Q785* 1.000 pfam_VPS39/TGF_beta_rcpt-assoc_2 pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 34 0 0.00 32 17 34.69 THUMPD2 0 genome.wustl.edu 37 2 39996959 39996959 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 39996959 39996959 T A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known missense c.563 p.E188V 0.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 tier1 - - 49 0 0.00 51 13 20.31 THUMPD2 0 genome.wustl.edu 37 2 39996960 39996960 + Nonsense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 39996960 39996960 C A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known nonsense c.562 p.E188* 0.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 tier1 - - 49 0 0.00 51 13 20.31 TOX 0 genome.wustl.edu 37 8 59750733 59750733 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 59750733 59750733 G A SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.831 p.A277 0.783 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 tier1 - - 149 0 0.00 144 60 29.41 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 83 0 0.00 13 45 77.59 TPP2 0 genome.wustl.edu 37 13 103295577 103295577 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 103295577 103295577 A G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.2026 p.T676A 0.991 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 tier1 - - 44 0 0.00 19 7 26.92 TRIM5 0 genome.wustl.edu 37 11 5687321 5687321 + Frame_Shift_Del DEL A A - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 5687321 5687321 A - DEL TRIM5 ENST00000396853 human ensembl 74_37 -1 known frame_shift_del c.761 p.L254fs 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 tier1 34 0 0.00 37 4 9.76 TRIM58 0 genome.wustl.edu 37 1 248039484 248039484 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 248039484 248039484 G C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1154 p.W385S 0.986 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 tier1 - - 156 0 0.00 164 36 18.00 TRPA1 0 genome.wustl.edu 37 8 72938259 72938259 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 72938259 72938259 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2987 p.R996H 0.043 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 rs142468969 - 54 0 0.00 67 13 16.25 TTN 0 genome.wustl.edu 37 2 179443704 179443704 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 179443704 179443704 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60349 p.D20117Y 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 72 0 0.00 41 24 36.92 TUBE1 0 genome.wustl.edu 37 6 112400915 112400915 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 112400915 112400915 C T SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known silent c.369 p.Q123 0.926 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 88 0 0.00 63 20 24.10 VPS13B 0 genome.wustl.edu 37 8 100866130 100866130 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 100866130 100866130 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10588 p.R3530W 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 191 0 0.00 189 27 12.50 WDR78 0 genome.wustl.edu 37 1 67299381 67299381 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 67299381 67299381 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known nonsense c.1900 p.R634* 0.910 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 26 0 0.00 33 8 19.51 WEE2-AS1 0 genome.wustl.edu 37 7 141427331 141427331 + RNA SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 7 141427331 141427331 G A SNP WEE2-AS1 ENST00000478332 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 tier1 - - 70 0 0.00 23 21 47.73 YWHAE 0 genome.wustl.edu 37 17 1264554 1264554 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 1264554 1264554 G A SNP YWHAE ENST00000264335 human ensembl 74_37 -1 known missense c.410 p.T137I 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 tier1 - - 163 0 0.00 25 85 77.27 ZBTB17 0 genome.wustl.edu 37 1 16270291 16270291 + RNA SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 16270291 16270291 C T SNP ZBTB17 ENST00000472658 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors ZBTB17 HGNC ENSG00000116809 tier1 - - 32 0 0.00 12 4 25.00 ZBTB8OS 0 genome.wustl.edu 37 1 33099733 33099733 + RNA SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 33099733 33099733 A G SNP ZBTB8OS ENST00000473383 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZBTB8OS HGNC ENSG00000176261 tier1 - - 39 0 0.00 34 14 29.17 ZER1 0 genome.wustl.edu 37 9 131495706 131495706 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 131495706 131495706 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.2242 p.R748C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 21 0 0.00 34 6 15.00 ZNF385B 0 genome.wustl.edu 37 2 180348015 180348015 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 180348015 180348015 G T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.654 p.N218K 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 61 0 0.00 49 16 24.62 ZNF658 0 genome.wustl.edu 37 9 40774871 40774872 + Frame_Shift_Ins INS - - T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 40774871 40774872 0 T INS ZNF658 ENST00000377626 human ensembl 74_37 -1 known frame_shift_ins c.404_403 p.I135fs 0.001:0.000 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 ZNF658 HGNC ENSG00000196409 31 0 0.00 34 7 17.07 ZNF678 0 genome.wustl.edu 37 1 227842353 227842353 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 227842353 227842353 C T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known silent c.567 p.F189 0.024 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 ZNF678 HGNC ENSG00000181450 tier1 - - 81 0 0.00 103 13 11.21 ZNF678 0 genome.wustl.edu 37 1 227842407 227842407 + Silent SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 227842407 227842407 C A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known silent c.621 p.P207 0.094 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 ZNF678 HGNC ENSG00000181450 tier1 - - 109 0 0.00 165 9 5.17 ZNF678 0 genome.wustl.edu 37 1 227842419 227842419 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 227842419 227842419 C A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.633 p.D211E 0.056 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 ZNF678 HGNC ENSG00000181450 tier1 - - 118 0 0.00 169 19 10.05 STRIP1 0 genome.wustl.edu 37 1 110586377 110586377 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 110586377 110586377 G A SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known silent c.1185 p.T395 0.002 NULL pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 44 0 0 28 12 30 NBPF10 0 genome.wustl.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 145367767 145367767 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10363 p.E3455K 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 44 0 0 92 5 5.15464 BCL9 0 genome.wustl.edu 37 1 147091941 147091941 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 147091941 147091941 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.1980 p.R660 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 79 0 0 74 38 33.9286 FAM189B 0 genome.wustl.edu 37 1 155217734 155217734 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 155217734 155217734 G T SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.1846 p.L616M 0.970 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 26 0 0 39 5 11.3636 KIRREL 0 genome.wustl.edu 37 1 158061169 158061169 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158061169 158061169 T G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1342 p.F448V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 99 0 0 37 83 69.1667 SPTA1 0 genome.wustl.edu 37 1 158607932 158607932 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158607932 158607932 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5080 p.R1694C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 88 0 0 79 21 21 PYHIN1 0 genome.wustl.edu 37 1 158906861 158906861 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 158906861 158906861 A G SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.161 p.E54G 0.001 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 67 0 0 74 21 22.1053 PCP4L1 0 genome.wustl.edu 37 1 161254257 161254257 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 161254257 161254257 G T SNP PCP4L1 ENST00000504449 human ensembl 74_37 +1 known missense c.193 p.D65Y 1.000 NULL NULL - no_errors PCP4L1 HGNC ENSG00000248485 34 0 0 36 5 12.1951 ASPM 0 genome.wustl.edu 37 1 197069766 197069766 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 197069766 197069766 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8615 p.T2872M 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 51 0 0 67 17 20.2381 RNPEP 0 genome.wustl.edu 37 1 201973563 201973563 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 201973563 201973563 T G SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1733 p.I578S 0.994 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 254 0 0 232 137 37.1274 ATP2B4 0 genome.wustl.edu 37 1 203669982 203669982 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 203669982 203669982 T C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.832 p.S278P 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 70 0 0 92 9 8.91089 PCNXL2 0 genome.wustl.edu 37 1 233335973 233335973 + Silent SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 233335973 233335973 C G SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.2901 p.G967 0.904 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 13 0 0 6 4 40 HEATR1 0 genome.wustl.edu 37 1 236718952 236718952 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 236718952 236718952 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5653 p.D1885N 0.996 pfam_BP28_C_dom,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 77 0 0 83 17 17 CNST 0 genome.wustl.edu 37 1 246754904 246754904 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 246754904 246754904 G C SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.40 p.E14Q 0.979 NULL NULL - no_errors CNST HGNC ENSG00000162852 95 0 0 134 12 8.21918 OR14K1 0 genome.wustl.edu 37 1 247902442 247902442 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 247902442 247902442 T G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.526 p.F176V 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 246 0 0 245 55 18.3333 TRIM58 0 genome.wustl.edu 37 1 248039484 248039484 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 248039484 248039484 G C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1154 p.W385S 0.986 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 147 0 0 153 33 17.7419 IQCC 0 genome.wustl.edu 37 1 32672180 32672180 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 32672180 32672180 A T SNP IQCC ENST00000537469 human ensembl 74_37 +1 known missense c.497 p.H166L 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 139 0 0 144 8 5.26316 PPIE 0 genome.wustl.edu 37 1 40208962 40208962 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 40208962 40208962 C T SNP PPIE ENST00000324379 human ensembl 74_37 +1 known silent c.276 p.S92 1.000 pirsf_Cyclophilin-type_PPIase_E pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 44 0 0 30 15 33.3333 WDR78 0 genome.wustl.edu 37 1 67299381 67299381 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 1 67299381 67299381 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known nonsense c.1900 p.R634* 0.910 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 23 0 0 29 7 19.4444 PSD 0 genome.wustl.edu 37 10 104176767 104176767 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 104176767 104176767 G A SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.29 p.S10L 0.992 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 21 0 0 38 7 15.5556 CUBN 0 genome.wustl.edu 37 10 16893327 16893327 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 16893327 16893327 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9570 p.I3190M 0.002 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 81 0 0 103 23 18.254 GAD2 0 genome.wustl.edu 37 10 26506587 26506587 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 26506587 26506587 A C SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.125 p.N42T 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 20 0 0 28 9 24.3243 ANKRD26 0 genome.wustl.edu 37 10 27382637 27382637 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 27382637 27382637 C T SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.334 p.E112K 0.285 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 78 0 0 100 21 17.3554 CTNNA3 0 genome.wustl.edu 37 10 69366706 69366706 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 69366706 69366706 C A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.201 p.W67C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 98 0 0 140 28 16.6667 LRIT2 0 genome.wustl.edu 37 10 85981706 85981706 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 10 85981706 85981706 C A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1653 p.K551N 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 193 0 0 243 43 15.035 DSCAML1 0 genome.wustl.edu 37 11 117391949 117391949 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 117391949 117391949 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1289 p.T430M 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 186 1 0.534759 138 49 26.2032 OR52K1 0 genome.wustl.edu 37 11 4510379 4510379 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 4510379 4510379 G A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.249 p.M83I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 82 0 0 55 4 6.77966 MPEG1 0 genome.wustl.edu 37 11 58979598 58979598 + Silent SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 58979598 58979598 G C SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.741 p.T247 0.021 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 46 0 0 30 8 21.0526 ILK 0 genome.wustl.edu 37 11 6629388 6629388 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 6629388 6629388 G A SNP ILK ENST00000299421 human ensembl 74_37 +1 known missense c.202 p.D68N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 72 0 0 58 25 30.1205 RBM14 0 genome.wustl.edu 37 11 66384208 66384208 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 66384208 66384208 G C SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.17 p.G6A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 57 0 0 40 15 27.2727 PCF11 0 genome.wustl.edu 37 11 82877703 82877703 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 11 82877703 82877703 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known nonsense c.1764 p.W588* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 128 0 0 86 28 24.5614 KCTD10 0 genome.wustl.edu 37 12 109889571 109889571 + Missense_Mutation SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 109889571 109889571 C G SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.771 p.L257F 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 46 0 0 46 3 6.12245 TAOK3 0 genome.wustl.edu 37 12 118673390 118673390 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 118673390 118673390 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.524 p.A175V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 54 0 0 52 17 24.6377 CCDC60 0 genome.wustl.edu 37 12 119943017 119943017 + Silent SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 119943017 119943017 C A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known silent c.792 p.P264 0.030 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 251 0 0 113 114 50.2203 SSPN 0 genome.wustl.edu 37 12 26377248 26377248 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 26377248 26377248 G T SNP SSPN ENST00000242729 human ensembl 74_37 +1 known missense c.302 p.G101V 1.000 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 239 0 0 256 18 6.56934 SSPN 0 genome.wustl.edu 37 12 26377249 26377249 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 26377249 26377249 C T SNP SSPN ENST00000242729 human ensembl 74_37 +1 known silent c.303 p.G101 0.992 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 238 0 0 253 19 6.98529 PCED1B 0 genome.wustl.edu 37 12 47629392 47629392 + Silent SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 47629392 47629392 G T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known silent c.546 p.R182 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 44 0 0 40 8 16.6667 TBC1D15 0 genome.wustl.edu 37 12 72288103 72288103 + Splice_Site SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 12 72288103 72288103 A T SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known splice_site c.658-2 e7-2 1.000 - - - no_errors TBC1D15 HGNC ENSG00000121749 66 0 0 49 23 31.9444 TPP2 0 genome.wustl.edu 37 13 103295577 103295577 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 103295577 103295577 A G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.2026 p.T676A 0.991 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 36 0 0 18 7 28 KDELC1 0 genome.wustl.edu 37 13 103443378 103443378 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 103443378 103443378 A T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.956 p.L319Q 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 76 0 0 70 23 24.7312 FREM2 0 genome.wustl.edu 37 13 39438623 39438623 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 39438623 39438623 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.7863 p.S2621 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 163 0 0 21 122 85.3147 FBXL3 0 genome.wustl.edu 37 13 77581388 77581388 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 13 77581388 77581388 C T SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known missense c.1179 p.M393I 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 126 0 0 77 25 24.5098 INF2 0 genome.wustl.edu 37 14 105169749 105169749 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 105169749 105169749 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.625 p.E209K 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 196 0 0 69 24 25.8065 BRF1 0 genome.wustl.edu 37 14 105752690 105752690 + Missense_Mutation SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 105752690 105752690 C G SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.208 p.G70R 0.990 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 24 0 0 12 8 40 ATP8B4 0 genome.wustl.edu 37 15 50189559 50189559 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 50189559 50189559 A G SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.2627 p.F876S 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8B4 HGNC ENSG00000104043 282 0 0 225 15 6.25 DPP8 0 genome.wustl.edu 37 15 65756155 65756155 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 65756155 65756155 C T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.1963 p.D655N 1.000 pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 76 0 0 60 10 14.2857 HCN4 0 genome.wustl.edu 37 15 73614941 73614941 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 73614941 73614941 G T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.3493 p.L1165M 0.002 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 19 0 0 4 13 76.4706 ABHD2 0 genome.wustl.edu 37 15 89736501 89736501 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 15 89736501 89736501 C T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known silent c.1032 p.D344 0.996 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 63 0 0 42 14 25 POLR3E 0 genome.wustl.edu 37 16 22325003 22325003 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 22325003 22325003 G T SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.427 p.D143Y 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 62 0 0 45 9 16.6667 ITGAM 0 genome.wustl.edu 37 16 31308895 31308895 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 31308895 31308895 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.1417 p.D473N 0.960 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 234 1 0.425532 119 61 33.8889 NLRC3 0 genome.wustl.edu 37 16 3614464 3614464 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 3614464 3614464 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.615 p.F205 0.832 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 91 0 0 41 20 32.7869 NLRC5 0 genome.wustl.edu 37 16 57108564 57108564 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 57108564 57108564 C A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.4720 p.L1574I 0.167 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 385 0 0 156 105 40.2299 CCDC135 0 genome.wustl.edu 37 16 57741405 57741405 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 57741405 57741405 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.892 p.G298S 0.997 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 75 0 0 30 17 36.1702 HYDIN 0 genome.wustl.edu 37 16 71012941 71012941 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 16 71012941 71012941 T A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.4514 p.N1505I 0.996 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 59 0 0 51 5 8.92857 MYH4 0 genome.wustl.edu 37 17 10358965 10358965 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 10358965 10358965 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2140 p.P714S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 62 0 0 34 21 38.1818 YWHAE 0 genome.wustl.edu 37 17 1264554 1264554 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 1264554 1264554 G A SNP YWHAE ENST00000264335 human ensembl 74_37 -1 known missense c.410 p.T137I 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 139 0 0 24 77 76.2376 SYNRG 0 genome.wustl.edu 37 17 35899297 35899297 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 35899297 35899297 C T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.3417 p.L1139 0.940 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 52 0 0 28 23 45.098 GPR179 0 genome.wustl.edu 37 17 36486448 36486448 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 36486448 36486448 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.3004 p.A1002S 0.300 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 84 0 0 58 5 7.93651 MSL1 0 genome.wustl.edu 37 17 38285676 38285676 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 38285676 38285676 C T SNP MSL1 ENST00000398532 human ensembl 74_37 +1 known missense c.1171 p.R391W 1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 84 0 0 46 29 38.6667 KRT12 0 genome.wustl.edu 37 17 39021123 39021123 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 39021123 39021123 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.742 p.D248N 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 177 0 0 68 44 39.2857 ABCA9 0 genome.wustl.edu 37 17 67031410 67031410 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 67031410 67031410 C T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.1105 p.A369T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 64 0 0 43 19 30.6452 CD300C 0 genome.wustl.edu 37 17 72541894 72541894 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 72541894 72541894 G A SNP CD300C ENST00000330793 human ensembl 74_37 -1 known missense c.28 p.R10W 0.183 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 20 0 0 10 5 33.3333 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 68 0 0 11 41 78.8462 SEH1L 0 genome.wustl.edu 37 18 12971249 12971249 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 12971249 12971249 A T SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.619 p.R207W 1.000 superfamily_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 SEH1L HGNC ENSG00000085415 59 0 0 51 20 28.169 EPG5 0 genome.wustl.edu 37 18 43535237 43535237 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 43535237 43535237 C A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.131 p.R44I 0.010 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 64 0 0 68 10 12.8205 EPB41L3 0 genome.wustl.edu 37 18 5398078 5398078 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 5398078 5398078 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2414 p.A805V 0.999 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 357 0 0 299 106 26.1728 ATP9B 0 genome.wustl.edu 37 18 77134098 77134098 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 18 77134098 77134098 T A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.3271 p.F1091I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 35 0 0 25 11 30.5556 MBD3 0 genome.wustl.edu 37 19 1578405 1578405 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 1578405 1578405 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known silent c.810 p.D270 0.015 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 64 0 0 51 3 5.55556 CILP2 0 genome.wustl.edu 37 19 19653766 19653766 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 19653766 19653766 C A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.962 p.P321H 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 114 1 0.869565 60 39 39.3939 FCGBP 0 genome.wustl.edu 37 19 40366185 40366185 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 40366185 40366185 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.14049 p.G4683 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 93 0 0 43 24 35.8209 B9D2 0 genome.wustl.edu 37 19 41860824 41860824 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 41860824 41860824 C T SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known silent c.309 p.P103 0.005 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 39 0 0 16 12 42.8571 FOXA3 0 genome.wustl.edu 37 19 46375695 46375695 + Nonsense_Mutation SNP C C G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 46375695 46375695 C G SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known nonsense c.432 p.Y144* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 230 0 0 144 13 8.28025 CATSPERD 0 genome.wustl.edu 37 19 5772830 5772830 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 5772830 5772830 G A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.1795 p.D599N 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 161 0 0 74 84 53.1646 ADAMTS10 0 genome.wustl.edu 37 19 8665978 8665978 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 19 8665978 8665978 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.644 p.P215L 0.591 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 80 0 0 48 19 28.3582 TGFBRAP1 0 genome.wustl.edu 37 2 105885782 105885782 + Nonsense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 105885782 105885782 G A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known nonsense c.2353 p.Q785* 1.000 pfam_VPS39/TGF_beta_rcpt-assoc_2 pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 31 0 0 30 14 31.8182 NCK2 0 genome.wustl.edu 37 2 106497999 106497999 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 106497999 106497999 T A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.442 p.W148R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 97 0 0 66 22 25 CKAP2L 0 genome.wustl.edu 37 2 113514012 113514012 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 113514012 113514012 T A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.936 p.R312S 0.005 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 108 0 0 86 34 28.3333 TTN 0 genome.wustl.edu 37 2 179443704 179443704 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 179443704 179443704 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60349 p.D20117Y 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 68 0 0 39 22 36.0656 ZNF385B 0 genome.wustl.edu 37 2 180348015 180348015 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 180348015 180348015 G T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.654 p.N218K 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 52 0 0 42 16 27.5862 ITGA4 0 genome.wustl.edu 37 2 182394271 182394271 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 182394271 182394271 A G SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.2434 p.I812V 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 79 0 0 58 14 19.4444 CALCRL 0 genome.wustl.edu 37 2 188243688 188243688 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 188243688 188243688 A T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.479 p.L160H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 114 0 0 99 42 29.7872 FZD7 0 genome.wustl.edu 37 2 202900917 202900917 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 202900917 202900917 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.1547 p.P516L 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 150 0 0 104 30 22.3881 COL6A3 0 genome.wustl.edu 37 2 238249500 238249500 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 238249500 238249500 A C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8059 p.F2687V 0.010 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 78 0 0 75 21 21.875 DPYSL5 0 genome.wustl.edu 37 2 27157486 27157486 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 27157486 27157486 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.831 p.T277 0.058 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 270 0 0 104 141 57.551 THUMPD2 0 genome.wustl.edu 37 2 39996959 39996959 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 39996959 39996959 T A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known missense c.563 p.E188V 0.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 49 0 0 50 12 19.3548 THUMPD2 0 genome.wustl.edu 37 2 39996960 39996960 + Nonsense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 39996960 39996960 C A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known nonsense c.562 p.E188* 0.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 49 0 0 50 12 19.3548 CCDC85A 0 genome.wustl.edu 37 2 56420319 56420319 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 56420319 56420319 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known silent c.984 p.H328 0.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 131 0 0 119 69 36.7021 ASAP2 0 genome.wustl.edu 37 2 9525431 9525431 + Nonsense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 2 9525431 9525431 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known nonsense c.2074 p.R692* 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 62 0 0 49 18 26.8657 FRG1B 0 genome.wustl.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 29625885 29625885 A T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.129 p.K43N 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 113 1 0.877193 112 7 5.88235 CDS2 0 genome.wustl.edu 37 20 5169758 5169758 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 5169758 5169758 T C SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.1027 p.S343P 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 148 0 0 79 93 54.0698 CDS2 0 genome.wustl.edu 37 20 5169759 5169759 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 5169759 5169759 C T SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.1028 p.S343F 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 147 0 0 80 91 53.2164 CBLN4 0 genome.wustl.edu 37 20 54575874 54575874 + Silent SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 20 54575874 54575874 T A SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known silent c.321 p.T107 0.016 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 111 0 0 121 20 14.1844 TIAM1 0 genome.wustl.edu 37 21 32624423 32624423 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 21 32624423 32624423 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1046 p.R349Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 354 1 0.28169 59 96 61.9355 DEPDC5 0 genome.wustl.edu 37 22 32215101 32215101 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 22 32215101 32215101 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1760 p.R587L 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 187 0 0 89 45 33.5821 EEFSEC 0 genome.wustl.edu 37 3 127983461 127983461 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 127983461 127983461 T G SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.623 p.L208R 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 171 0 0 82 30 26.7857 EPHB1 0 genome.wustl.edu 37 3 134670439 134670439 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 134670439 134670439 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.350 p.T117I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 93 0 0 61 7 10.2941 OXSR1 0 genome.wustl.edu 37 3 38263105 38263105 + Missense_Mutation SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 38263105 38263105 A G SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.527 p.D176G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 117 0 0 54 34 38.6364 OXSR1 0 genome.wustl.edu 37 3 38278446 38278446 + Silent SNP A A G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 38278446 38278446 A G SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known silent c.1068 p.Q356 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 120 0 0 61 39 39 CTNNB1 0 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 41266097 41266097 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.94 p.D32H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 43 0 0 24 15 38.4615 LIMD1 0 genome.wustl.edu 37 3 45637009 45637009 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 45637009 45637009 G T SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.638 p.G213V 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 61 0 0 60 5 7.69231 SACM1L 0 genome.wustl.edu 37 3 45785060 45785060 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 45785060 45785060 T C SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.1663 p.F555L 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 142 0 0 89 6 6.31579 ARIH2 0 genome.wustl.edu 37 3 48965115 48965115 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 48965115 48965115 G T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.124 p.V42L 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 42 0 0 27 15 35.7143 WDR6 0 genome.wustl.edu 37 3 49052578 49052578 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 49052578 49052578 C T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.3313 p.H1105Y 0.200 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 65 0 0 38 22 36.6667 DOCK3 0 genome.wustl.edu 37 3 51399383 51399383 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 51399383 51399383 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.5100 p.D1700 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 18 0 0 15 4 21.0526 CNTN3 0 genome.wustl.edu 37 3 74347290 74347290 + Missense_Mutation SNP A A T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 3 74347290 74347290 A T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2219 p.F740Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 62 0 0 49 6 10.9091 NAF1 0 genome.wustl.edu 37 4 164087688 164087688 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 164087688 164087688 C T SNP NAF1 ENST00000274054 human ensembl 74_37 -1 known silent c.192 p.E64 0.000 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 19 0 0 14 7 33.3333 SORBS2 0 genome.wustl.edu 37 4 186545502 186545502 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 186545502 186545502 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1069 p.G357S 0.989 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 79 0 0 41 20 32.7869 PIGG 0 genome.wustl.edu 37 4 515679 515679 + Silent SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 515679 515679 G C SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.1563 p.V521 0.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 57 0 0 31 23 42.5926 KDR 0 genome.wustl.edu 37 4 55979504 55979504 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 55979504 55979504 T A SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.943 p.T315S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 138 0 0 94 5 5.05051 JAKMIP1 0 genome.wustl.edu 37 4 6083437 6083437 + Nonsense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 6083437 6083437 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known nonsense c.1000 p.E334* 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 76 0 0 41 27 39.7059 SLC4A4 0 genome.wustl.edu 37 4 72433557 72433557 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 72433557 72433557 C A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.3232 p.P1078T 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 11 0 0 1 4 80 GAK 0 genome.wustl.edu 37 4 858996 858996 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 4 858996 858996 G A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.3080 p.S1027L 0.980 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 67 0 0 36 14 28 PCDHA5 0 genome.wustl.edu 37 5 140202818 140202818 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 140202818 140202818 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1458 p.N486 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 177 0 0 83 33 28.4483 PCDHB14 0 genome.wustl.edu 37 5 140604711 140604711 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 140604711 140604711 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1634 p.A545V 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 115 0 0 60 27 31.0345 KIF4B 0 genome.wustl.edu 37 5 154393634 154393634 + Missense_Mutation SNP T T A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 154393634 154393634 T A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.215 p.L72H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 100 0 0 39 38 49.3506 GABRG2 0 genome.wustl.edu 37 5 161580118 161580118 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 161580118 161580118 G T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.1172 p.R391L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg2_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 101 0 0 30 23 43.3962 FGFR4 0 genome.wustl.edu 37 5 176517594 176517594 + Missense_Mutation SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 176517594 176517594 T C SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.295 p.Y99H 0.995 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 72 0 0 17 12 41.3793 GHR 0 genome.wustl.edu 37 5 42719504 42719504 + Missense_Mutation SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 5 42719504 42719504 A C SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.1895 p.Q632P 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 124 0 0 157 10 5.98802 TUBE1 0 genome.wustl.edu 37 6 112400915 112400915 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 112400915 112400915 C T SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known silent c.369 p.Q123 0.926 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 79 0 0 54 19 26.0274 RUNX2 0 genome.wustl.edu 37 6 45405767 45405767 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 45405767 45405767 G C SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.868 p.D290H 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 153 0 0 79 49 38.2812 MYO6 0 genome.wustl.edu 37 6 76551089 76551089 + Silent SNP T T C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 6 76551089 76551089 T C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known silent c.810 p.N270 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 26 0 0 14 10 41.6667 RUNDC3B 0 genome.wustl.edu 37 7 87370836 87370836 + Silent SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 7 87370836 87370836 G T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.621 p.G207 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 27 0 0 125 202 61.7737 VPS13B 0 genome.wustl.edu 37 8 100866130 100866130 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 100866130 100866130 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10588 p.R3530W 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 175 0 0 177 27 13.2353 RNF19A 0 genome.wustl.edu 37 8 101277003 101277003 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 101277003 101277003 C A SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1202 p.R401L 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 130 0 0 173 17 8.94737 KCNV1 0 genome.wustl.edu 37 8 110984808 110984808 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 110984808 110984808 T G SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.670 p.I224L 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 83 0 0 77 7 8.33333 FER1L6 0 genome.wustl.edu 37 8 124992960 124992960 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 124992960 124992960 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1319 p.A440V 0.067 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 73 0 0 90 16 15.0943 ADCY8 0 genome.wustl.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 131916177 131916177 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1752 p.T584 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 138 0 0 152 40 20.8333 CYP11B1 0 genome.wustl.edu 37 8 143958622 143958622 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 143958622 143958622 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.412 p.R138C 0.995 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_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 28 0 0 17 14 45.1613 CYP11B2 0 genome.wustl.edu 37 8 143999168 143999168 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 143999168 143999168 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.89 p.R30Q 0.000 NULL 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 143 0 0 135 29 17.6829 SCARA3 0 genome.wustl.edu 37 8 27516485 27516485 + Silent SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 27516485 27516485 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known silent c.798 p.R266 0.000 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 60 0 0 76 18 19.1489 TOX 0 genome.wustl.edu 37 8 59750733 59750733 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 59750733 59750733 G A SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.831 p.A277 0.783 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 137 0 0 131 55 29.5699 NCOA2 0 genome.wustl.edu 37 8 71044188 71044188 + Missense_Mutation SNP C C A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 71044188 71044188 C A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3208 p.A1070S 0.142 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 23 0 0 17 9 34.6154 TRPA1 0 genome.wustl.edu 37 8 72938259 72938259 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 72938259 72938259 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2987 p.R996H 0.043 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 41 0 0 56 11 16.4179 E2F5 0 genome.wustl.edu 37 8 86126071 86126071 + Missense_Mutation SNP T T G TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 8 86126071 86126071 T G SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known missense c.1018 p.F340V 1.000 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 67 0 0 72 15 17.2414 CRB2 0 genome.wustl.edu 37 9 126132659 126132659 + Missense_Mutation SNP G G C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 126132659 126132659 G C SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.1327 p.V443L 0.376 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 90 0 0 77 14 15.3846 GOLGA2 0 genome.wustl.edu 37 9 131019452 131019452 + Missense_Mutation SNP C C T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 131019452 131019452 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2903 p.R968H 0.004 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 123 0 0 155 40 20.5128 ZER1 0 genome.wustl.edu 37 9 131495706 131495706 + Missense_Mutation SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 131495706 131495706 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.2242 p.R748C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 20 0 0 31 6 16.2162 NUP214 0 genome.wustl.edu 37 9 134019765 134019765 + Missense_Mutation SNP G G T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 134019765 134019765 G T SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1393 p.A465S 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 531 0 0 690 75 9.80392 PTPRD 0 genome.wustl.edu 37 9 8499815 8499815 + Silent SNP G G A TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 8499815 8499815 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.2154 p.V718 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 78 0 0 11 17 60.7143 ATRX 0 genome.wustl.edu 37 X 76907602 76907602 + Splice_Site SNP A A C TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 X 76907602 76907602 A C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site c.4557+2 e15+2 1.000 - - - no_errors ATRX HGNC ENSG00000085224 195 0 0 92 49 34.7518 CPSF2 0 genome.wustl.edu 37 14 92601793 92601795 + In_Frame_Del DEL AGA AGA - TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 14 92601793 92601795 AGA - DEL CPSF2 ENST00000298875 human ensembl 74_37 +1 known in_frame_del c.498_500 p.E169in_frame_del 0.997:1.000:1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 91 0 0 69 27 28.125 ZNF658 0 genome.wustl.edu 37 9 40774871 40774872 + Frame_Shift_Ins INS - - T TCGA-D7-A6EX-01A-11D-A31L-08 TCGA-D7-A6EX-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ed785cf-5f7c-4376-a036-e828130d4ef3 d8bfaabe-c026-426b-aa9f-eb512ec18101 9 40774871 40774872 - T INS ZNF658 ENST00000377626 human ensembl 74_37 -1 known frame_shift_ins c.404_403 p.I135fs 0.001:0.000 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 ZNF658 HGNC ENSG00000196409 38 0 0 44 7 13.7255