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 ABCC8 0 genome.wustl.edu 37 11 17416732 17416732 + Silent SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 17416732 17416732 C A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.4401 p.L1467 0.994 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 19 0 0.00 21 6 22.22 ADAM23 0 genome.wustl.edu 37 2 207452839 207452839 + Missense_Mutation SNP A A G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 2 207452839 207452839 A G SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1813 p.K605E 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 67 0 0.00 43 19 30.65 ADAM28 0 genome.wustl.edu 37 8 24193159 24193159 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 8 24193159 24193159 G A SNP ADAM28 ENST00000437154 human ensembl 74_37 +1 known silent c.1572 p.R524 0.998 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 85 0 0.00 32 60 65.22 ADAMTS14 0 genome.wustl.edu 37 10 72498630 72498630 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 10 72498630 72498630 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.1641 p.S547 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 141 0 0.00 60 15 20.00 ARFIP1 0 genome.wustl.edu 37 4 153833145 153833145 + RNA DEL A A - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 153833145 153833145 A - DEL ARFIP1 ENST00000510497 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARFIP1 HGNC ENSG00000164144 tier1 34 0 0.00 21 3 12.50 ARHGEF5 0 genome.wustl.edu 37 7 144062632 144062632 + Nonsense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 144062632 144062632 C G SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known nonsense c.2870 p.S957* 0.005 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 tier1 rs202036368 - 17 0 0.00 13 4 23.53 ASB10 0 genome.wustl.edu 37 7 150884267 150884268 + Frame_Shift_Del DEL AG AG - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 150884267 150884268 AG - DEL ASB10 ENST00000422024 human ensembl 74_37 -1 known frame_shift_del c.86_85 p.L29fs 0.003:0.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 31 0 0.00 26 3 10.34 AWAT1 0 genome.wustl.edu 37 X 69454560 69454560 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 X 69454560 69454560 G A SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known silent c.15 p.K5 0.048 NULL pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 tier1 - - 69 0 0.00 53 6 10.17 BCR 0 genome.wustl.edu 37 22 23658024 23658025 + RNA INS - - TA TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 22 23658024 23658025 - TA INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.998 - - - no_errors BCR HGNC ENSG00000186716 tier1 34 0 0.00 18 2 10.00 BEAN1 0 genome.wustl.edu 37 16 66511471 66511471 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 16 66511471 66511471 G A SNP BEAN1 ENST00000536005 human ensembl 74_37 +1 known missense c.298 p.E100K 0.019 NULL NULL - no_errors BEAN1 HGNC ENSG00000166546 tier1 - - 19 0 0.00 20 8 28.57 BNC1 0 genome.wustl.edu 37 15 83932769 83932769 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 15 83932769 83932769 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1234 p.R412W 0.997 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 37 0 0.00 21 11 34.38 BTBD11 0 genome.wustl.edu 37 12 108013823 108013823 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 108013823 108013823 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2513 p.R838H 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 75 0 0.00 36 4 10.00 C19orf55 0 genome.wustl.edu 37 19 36258937 36258937 + Missense_Mutation SNP A A C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 19 36258937 36258937 A C SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.1190 p.Q397P 0.791 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 16 0 0.00 34 4 10.53 CACNA1C 0 genome.wustl.edu 37 12 2800324 2800324 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 2800324 2800324 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.6589 p.E2197K 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 48 0 0.00 60 21 25.93 CDH10 0 genome.wustl.edu 37 5 24593471 24593471 + Missense_Mutation SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 24593471 24593471 C A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.129 p.R43S 0.856 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 48 0 0.00 47 15 24.19 CDH9 0 genome.wustl.edu 37 5 26881567 26881567 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 26881567 26881567 C G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2048 p.R683T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 62 0 0.00 56 18 24.32 CENPT 0 genome.wustl.edu 37 16 67866357 67866357 + Splice_Site SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 16 67866357 67866357 C A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known splice_site c.201+1 e2+1 0.987 - - - no_errors CENPT HGNC ENSG00000102901 tier1 - - 77 0 0.00 44 18 29.03 CMYA5 0 genome.wustl.edu 37 5 79024876 79024876 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 79024876 79024876 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.288 p.W96C 1.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 60 0 0.00 49 3 5.77 COCH 0 genome.wustl.edu 37 14 31354680 31354680 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 14 31354680 31354680 G T SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.814 p.V272L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 tier1 - - 102 0 0.00 55 4 6.67 COL9A3 0 genome.wustl.edu 37 20 61472147 61472147 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 20 61472147 61472147 C T SNP COL9A3 ENST00000462700 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 50 0 0.00 49 12 19.67 CPA1 0 genome.wustl.edu 37 7 130021558 130021558 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 130021558 130021558 C G SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.235 p.L79V 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 tier1 - - 76 0 0.00 49 21 30.00 CROCCP2 0 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs9728628 - 15 0 0.00 15 9 37.50 CSPP1 0 genome.wustl.edu 37 8 67986506 67986506 + Nonsense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 8 67986506 67986506 G T SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known nonsense c.127 p.E43* 0.998 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 40 0 0.00 56 3 5.08 DBX2 0 genome.wustl.edu 37 12 45417494 45417494 + Nonsense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 45417494 45417494 G T SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known nonsense c.683 p.S228* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 tier1 - - 73 0 0.00 57 5 8.06 DCT 0 genome.wustl.edu 37 13 95114434 95114434 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 13 95114434 95114434 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known silent c.873 p.D291 0.991 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 73 0 0.00 31 21 40.38 DDX50 0 genome.wustl.edu 37 10 70694630 70694630 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 10 70694630 70694630 C G SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.1477 p.Q493E 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 34 0 0.00 16 13 44.83 DNAH5 0 genome.wustl.edu 37 5 13928260 13928260 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 13928260 13928260 C G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.220 p.V74L 0.757 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 32 0 0.00 31 8 20.51 DSEL 0 genome.wustl.edu 37 18 65181701 65181701 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 18 65181701 65181701 C G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.175 p.D59H 0.776 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 27 0 0.00 17 5 21.74 DYRK4 0 genome.wustl.edu 37 12 4708255 4708255 + Missense_Mutation SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 4708255 4708255 C G SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.622 p.R208G 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 DYRK4 HGNC ENSG00000010219 tier1 - - 103 0 0.00 142 10 6.54 EFTUD1 0 genome.wustl.edu 37 15 82554093 82554093 + Missense_Mutation SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 15 82554093 82554093 C A SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.27 p.M9I 0.988 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 tier1 - - 81 0 0.00 73 4 5.19 EGFR 0 genome.wustl.edu 37 7 55273280 55273280 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 55273280 55273280 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.3603 p.A1201 0.241 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 rs202156403 - 41 0 0.00 39 13 25.00 EIF2S3 0 genome.wustl.edu 37 X 24075597 24075597 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 X 24075597 24075597 C T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known missense c.193 p.H65Y 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,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 EIF2S3 HGNC ENSG00000130741 tier1 - - 65 0 0.00 26 14 35.00 ENSG00000180458 0 genome.wustl.edu 37 19 38039849 38039849 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 19 38039849 38039849 G A SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 78 0 0.00 94 5 5.05 ENSG00000183562 0 genome.wustl.edu 37 11 3012266 3012266 + Missense_Mutation SNP A A T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 3012266 3012266 A T SNP ENSG00000183562 ENST00000332881 human ensembl 74_37 +1 known missense c.1 p.M1L 0.000 NULL NULL - no_errors AC131971.1 Clone_based_ensembl_gene ENSG00000183562 tier1 - - 16 0 0.00 13 6 31.58 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 tier1 16 0 0.00 14 5 26.32 ENSG00000217825 0 genome.wustl.edu 37 7 154989089 154989089 + Missense_Mutation SNP T T C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 154989089 154989089 T C SNP ENSG00000217825 ENST00000431083 human ensembl 74_37 -1 known missense c.47 p.Y16C 0.100 NULL NULL - no_errors AC099552.4 Clone_based_vega_gene ENSG00000217825 tier1 - - 68 0 0.00 41 16 28.07 ENSG00000223678 0 genome.wustl.edu 37 9 33402930 33402931 + RNA INS - - G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 33402930 33402931 - G INS ENSG00000223678 ENST00000450864 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-311H10.4 Clone_based_vega_gene ENSG00000223678 tier1 8 0 0.00 1 3 75.00 ENSG00000224702 0 genome.wustl.edu 37 1 165180170 165180170 + RNA SNP G G C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 165180170 165180170 G C SNP ENSG00000224702 ENST00000457106 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-38C18.2 Clone_based_vega_gene ENSG00000224702 tier1 - - 13 0 0.00 5 5 50.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608123 100608124 + RNA INS - - G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 100608123 100608124 - G INS ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.037 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 18 0 0.00 22 6 21.43 ENSG00000233547 0 genome.wustl.edu 37 10 114710508 114710508 + RNA DEL A A - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 10 114710508 114710508 A - DEL ENSG00000233547 ENST00000369391 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-57H14.2 Clone_based_vega_gene ENSG00000233547 tier1 33 0 0.00 28 5 15.15 ENSG00000234864 0 genome.wustl.edu 37 10 43199368 43199368 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 10 43199368 43199368 C T SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.573 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 46 0 0.00 26 11 29.73 ENSG00000235999 0 genome.wustl.edu 37 1 149291295 149291295 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 149291295 149291295 G A SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 19 0 0.00 33 3 8.33 ENSG00000257069 0 genome.wustl.edu 37 11 64067761 64067761 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 64067761 64067761 C T SNP ENSG00000257069 ENST00000539086 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-783K16.10 Clone_based_vega_gene ENSG00000257069 tier1 - - 17 0 0.00 20 5 20.00 ENSG00000259069 0 genome.wustl.edu 37 14 20147023 20147023 + RNA SNP T T C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 14 20147023 20147023 T C SNP ENSG00000259069 ENST00000555580 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.6 Clone_based_vega_gene ENSG00000259069 tier1 - - 173 0 0.00 127 52 29.05 ENSG00000259198 0 genome.wustl.edu 37 15 40605564 40605566 + RNA DEL TTT TTT - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 15 40605564 40605566 TTT - DEL ENSG00000259198 ENST00000559030 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.013:0.014 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259198 tier1 13 0 0.00 4 2 33.33 EPB41L4A 0 genome.wustl.edu 37 5 111481669 111481669 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 111481669 111481669 C T SNP EPB41L4A ENST00000507810 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 90 0 0.00 57 29 33.72 ESPL1 0 genome.wustl.edu 37 12 53668781 53668781 + Nonsense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 53668781 53668781 G T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known nonsense c.1687 p.E563* 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 48 0 0.00 28 8 22.22 EVPLL 0 genome.wustl.edu 37 17 18292454 18292454 + RNA SNP C C G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 17 18292454 18292454 C G SNP EVPLL ENST00000583003 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors EVPLL HGNC ENSG00000214860 tier1 rs199697056 - 13 0 0.00 6 3 33.33 EYS 0 genome.wustl.edu 37 6 66005908 66005908 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 6 66005908 66005908 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1871 p.S624L 0.041 NULL pfam_Laminin_G,pfam_EG-like_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 EYS HGNC ENSG00000188107 tier1 - - 55 0 0.00 31 11 26.19 FAM154A 0 genome.wustl.edu 37 9 18928750 18928750 + Missense_Mutation SNP T T A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 18928750 18928750 T A SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known missense c.725 p.Q242L 0.064 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 tier1 - - 92 0 0.00 89 7 7.29 FAM172A 0 genome.wustl.edu 37 5 93388885 93388885 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 93388885 93388885 G T SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.154 p.P52T 1.000 NULL pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 tier1 - - 78 0 0.00 70 4 5.41 FAM196B 0 genome.wustl.edu 37 5 169310673 169310673 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 169310673 169310673 G T SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known missense c.230 p.P77H 0.919 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 75 0 0.00 55 17 23.61 FCRLA 0 genome.wustl.edu 37 1 161681713 161681713 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 161681713 161681713 C T SNP FCRLA ENST00000470841 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FCRLA HGNC ENSG00000132185 tier1 - - 59 0 0.00 47 18 27.69 FRYL 0 genome.wustl.edu 37 4 48559130 48559130 + Silent SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 48559130 48559130 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.4131 p.G1377 0.435 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 43 0 0.00 45 5 10.00 FTSJ3 0 genome.wustl.edu 37 17 61903427 61903427 + Frame_Shift_Del DEL G G - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 17 61903427 61903427 G - DEL FTSJ3 ENST00000427159 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 53 0 0.00 29 6 17.14 GAS6 0 genome.wustl.edu 37 13 114541097 114541097 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 13 114541097 114541097 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.534 p.F178 0.945 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 tier1 - - 168 0 0.00 84 35 29.17 GNAQ 0 genome.wustl.edu 37 9 80646047 80646047 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 80646047 80646047 G A SNP GNAQ ENST00000286548 human ensembl 74_37 -1 known silent c.105 p.D35 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 34 0 0.00 29 3 9.38 GRM6 0 genome.wustl.edu 37 5 178408747 178408747 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 178408747 178408747 G T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2545 p.Q849K 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 - - 75 0 0.00 62 9 12.68 GTF2A2 0 genome.wustl.edu 37 15 59934415 59934415 + Missense_Mutation SNP A A T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 15 59934415 59934415 A T SNP GTF2A2 ENST00000396060 human ensembl 74_37 -1 known missense c.224 p.V75E 1.000 pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu - no_errors GTF2A2 HGNC ENSG00000140307 tier1 - - 58 0 0.00 62 4 6.06 HAUS5 0 genome.wustl.edu 37 19 36111189 36111189 + Silent SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 19 36111189 36111189 C A SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.1611 p.L537 0.006 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 tier1 - - 78 0 0.00 34 22 39.29 HBS1L 0 genome.wustl.edu 37 6 135357717 135357717 + Silent SNP T T C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 6 135357717 135357717 T C SNP HBS1L ENST00000367822 human ensembl 74_37 -1 known silent c.1878 p.K626 1.000 NULL pfam_HBS1-like_N - no_errors HBS1L HGNC ENSG00000112339 14 0 0.00 2 4 66.67 HNF4G 0 genome.wustl.edu 37 8 76471212 76471212 + Missense_Mutation SNP T T C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 8 76471212 76471212 T C SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.1033 p.F345L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 tier1 - - 47 0 0.00 24 6 20.00 HSPA14 0 genome.wustl.edu 37 10 14884177 14884177 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 10 14884177 14884177 G A SNP HSPA14 ENST00000493178 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSPA14 HGNC ENSG00000187522 tier1 - - 15 0 0.00 4 6 60.00 HSPG2 0 genome.wustl.edu 37 1 22169271 22169271 + Missense_Mutation SNP G G C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 22169271 22169271 G C SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.8902 p.R2968G 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 102 0 0.00 81 18 18.18 HTATIP2 0 genome.wustl.edu 37 11 20385843 20385843 + Silent SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 20385843 20385843 C T SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known silent c.162 p.S54 0.407 NULL pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 tier1 - - 27 0 0.00 25 7 21.88 IL3 0 genome.wustl.edu 37 5 131398418 131398418 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 131398418 131398418 G A SNP IL3 ENST00000296870 human ensembl 74_37 +1 known silent c.393 p.T131 0.000 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 - no_errors IL3 HGNC ENSG00000164399 tier1 - - 42 0 0.00 38 8 17.39 KCNA7 0 genome.wustl.edu 37 19 49574060 49574060 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 19 49574060 49574060 C T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.631 p.V211M 0.976 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 tier1 - - 64 0 0.00 46 26 36.11 KCNB1 0 genome.wustl.edu 37 20 48098775 48098775 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 20 48098775 48098775 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.243 p.N81 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 tier1 - - 29 0 0.00 25 25 50.00 KCNJ8 0 genome.wustl.edu 37 12 21918874 21918874 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 21918874 21918874 C T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.1058 p.C353Y 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 tier1 - - 62 0 0.00 33 41 55.41 KHDRBS1 0 genome.wustl.edu 37 1 32508884 32508884 + RNA DEL A A - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 32508884 32508884 A - DEL KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 25 0 0.00 27 3 10.00 KIAA2026 0 genome.wustl.edu 37 9 5922719 5922719 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 5922719 5922719 G A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3277 p.P1093S 0.999 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 50 0 0.00 26 15 36.59 KRT13 0 genome.wustl.edu 37 17 39657566 39657566 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 17 39657566 39657566 G A SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.1319 p.S440F 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 tier1 - - 62 0 0.00 43 4 8.51 KRTAP13-2 0 genome.wustl.edu 37 21 31744251 31744251 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 21 31744251 31744251 G A SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known missense c.281 p.T94M 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 tier1 - - 101 0 0.00 55 26 32.10 LIMCH1 0 genome.wustl.edu 37 4 41621228 41621228 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 41621228 41621228 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.229 p.D77N 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 47 0 0.00 55 5 8.33 LMOD3 0 genome.wustl.edu 37 3 69171403 69171403 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 3 69171403 69171403 G T SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known missense c.135 p.D45E 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 72 0 0.00 52 4 7.14 LOC100190940 0 genome.wustl.edu 37 12 130521279 130521280 + RNA INS - - A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 130521279 130521280 - A INS LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.436:0.532 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 tier1 26 0 0.00 16 7 30.43 LOC101928303 0 genome.wustl.edu 37 1 26551855 26551855 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 26551855 26551855 G A SNP LOC101928303 ENST00000451482 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-231P20.2 Clone_based_vega_gene ENSG00000236155 tier1 - - 12 0 0.00 6 7 53.85 LOC101928521 0 genome.wustl.edu 37 4 647448 647448 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 647448 647448 C T SNP LOC101928521 ENST00000468356 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1191J2.2 Clone_based_vega_gene ENSG00000242686 tier1 - - 38 0 0.00 12 38 76.00 LRRC15 0 genome.wustl.edu 37 3 194080470 194080470 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 3 194080470 194080470 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1321 p.R441C 0.421 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 tier1 - - 43 0 0.00 44 14 24.14 MARCO 0 genome.wustl.edu 37 2 119727700 119727700 + Silent SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 2 119727700 119727700 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.210 p.L70 1.000 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 18 0 0.00 11 5 31.25 MGA 0 genome.wustl.edu 37 15 42058227 42058227 + Silent SNP A A C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 15 42058227 42058227 A C SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.7947 p.P2649 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 32 0 0.00 24 12 33.33 MIOX 0 genome.wustl.edu 37 22 50927860 50927860 + Missense_Mutation SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 22 50927860 50927860 C A SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.621 p.F207L 1.000 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 tier1 - - 84 0 0.00 35 19 35.19 MROH2A 0 genome.wustl.edu 37 2 234703137 234703137 + Silent SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 2 234703137 234703137 G T SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel silent c.951 p.V317 0.155 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 73 0 0.00 56 20 26.32 MSH4 0 genome.wustl.edu 37 1 76346962 76346962 + Nonsense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 76346962 76346962 G T SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known nonsense c.1813 p.E605* 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 tier1 - - 182 0 0.00 163 9 5.23 MST1 0 genome.wustl.edu 37 3 49723526 49723526 + Silent SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 3 49723526 49723526 G T SNP MST1 ENST00000449682 human ensembl 74_37 -1 known silent c.1116 p.I372 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 53 0 0.00 26 2 7.14 MT-ATP6 0 genome.wustl.edu 37 MT 8980 8980 + Nonsense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 MT 8980 8980 C T SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known nonsense c.454 p.Q152* NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 75 0 0.00 10 2 16.67 MT-ND4L 0 genome.wustl.edu 37 MT 10673 10673 + Silent SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 MT 10673 10673 C A SNP MT-ND4L ENST00000361335 human ensembl 74_37 +1 known silent c.204 p.A68 NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 tier1 - - 103 0 0.00 8 2 20.00 MT-RNR2 0 genome.wustl.edu 37 MT 3091 3091 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 MT 3091 3091 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 94 0 0.00 22 3 12.00 NANOGP1 0 genome.wustl.edu 37 12 8051567 8051567 + RNA SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 8051567 8051567 C A SNP NANOGP1 ENST00000607111 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NANOGP1 HGNC ENSG00000176654 tier1 - - 134 0 0.00 200 22 9.91 NBPF14 0 genome.wustl.edu 37 1 148015634 148015634 + Missense_Mutation SNP T T C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 148015634 148015634 T C SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.997 p.N333D 0.002 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 28 0 0.00 21 2 8.70 NOTCH1 0 genome.wustl.edu 37 9 139413231 139413231 + Frame_Shift_Del DEL T T - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 139413231 139413231 T - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.911 p.N304fs 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 156 0 0.00 46 69 60.00 NPAS4 0 genome.wustl.edu 37 11 66191454 66191454 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 66191454 66191454 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1093 p.A365T 0.042 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 24 0 0.00 18 10 34.48 NYX 0 genome.wustl.edu 37 X 41332755 41332755 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 X 41332755 41332755 G A SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.49 p.G17S 0.186 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 36 0 0.00 13 6 31.58 OR10G8 0 genome.wustl.edu 37 11 123900990 123900990 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 123900990 123900990 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.661 p.V221I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 188 0 0.00 93 44 32.12 OR51G2 0 genome.wustl.edu 37 11 4936269 4936269 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 4936269 4936269 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.625 p.V209I 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 tier1 - - 46 0 0.00 36 9 20.00 PDZD2 0 genome.wustl.edu 37 5 32090983 32090983 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 32090983 32090983 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.7429 p.V2477M 0.008 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 30 0 0.00 37 10 21.28 PKD1L2 0 genome.wustl.edu 37 16 81209275 81209275 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 16 81209275 81209275 G T SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2518 p.L840M 0.180 pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 47 0 0.00 37 2 5.13 PLBD1 0 genome.wustl.edu 37 12 14706313 14706313 + Missense_Mutation SNP G G C TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 14706313 14706313 G C SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.149 p.A50G 0.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 42 0 0.00 47 31 39.74 PLG 0 genome.wustl.edu 37 6 161139850 161139850 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 6 161139850 161139850 C T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.1076 p.T359M 0.000 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 - - 56 0 0.00 34 16 32.00 POMP 0 genome.wustl.edu 37 13 29252307 29252307 + RNA SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 13 29252307 29252307 G T SNP POMP ENST00000460403 human ensembl 74_37 +1 known rna NULL NULL 0.959 - - - no_errors POMP HGNC ENSG00000132963 tier1 - - 47 0 0.00 37 4 9.76 PRKG2 0 genome.wustl.edu 37 4 82065482 82065482 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 82065482 82065482 G T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.1157 p.T386K 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 38 0 0.00 42 4 8.70 PTPRD 0 genome.wustl.edu 37 9 8486299 8486299 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 8486299 8486299 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2518 p.L840I 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 - - 59 0 0.00 27 11 28.95 RAB3C 0 genome.wustl.edu 37 5 57913496 57913496 + Silent SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 57913496 57913496 C T SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known silent c.51 p.Y17 0.999 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 tier1 - - 29 0 0.00 16 13 44.83 RIN1 0 genome.wustl.edu 37 11 66103267 66103267 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 66103267 66103267 G A SNP RIN1 ENST00000530745 human ensembl 74_37 -1 known missense c.167 p.S56L 0.772 NULL NULL - no_errors RIN1 HGNC ENSG00000174791 tier1 - - 59 0 0.00 39 10 20.41 SCUBE1 0 genome.wustl.edu 37 22 43617211 43617211 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 22 43617211 43617211 C T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1517 p.R506Q 0.048 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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 SCUBE1 HGNC ENSG00000159307 tier1 rs140525929 - 210 0 0.00 48 38 44.19 SETX 0 genome.wustl.edu 37 9 135153554 135153554 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 9 135153554 135153554 G T SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.6745 p.L2249M 0.024 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 33 0 0.00 35 2 5.41 SIGLEC1 0 genome.wustl.edu 37 20 3672113 3672113 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 20 3672113 3672113 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.4465 p.H1489Y 0.001 smart_Ig_sub,smart_Ig_sub2,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 SIGLEC1 HGNC ENSG00000088827 tier1 - - 53 0 0.00 56 26 31.71 SLC36A3 0 genome.wustl.edu 37 5 150660711 150660711 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 5 150660711 150660711 G A SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known silent c.1131 p.I377 0.005 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 tier1 - - 47 0 0.00 52 11 17.46 SLCO1A2 0 genome.wustl.edu 37 12 21457384 21457384 + Missense_Mutation SNP A A G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 21457384 21457384 A G SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.566 p.F189S 0.985 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 38 0 0.00 45 14 23.73 SRPK1 0 genome.wustl.edu 37 6 35837431 35837434 + Frame_Shift_Del DEL AGAG AGAG - TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 6 35837431 35837434 AGAG - DEL SRPK1 ENST00000373825 human ensembl 74_37 -1 known frame_shift_del c.1239_1236 p.S413fs 1.000:1.000:1.000:1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 tier1 98 0 0.00 61 19 23.75 SUSD4 0 genome.wustl.edu 37 1 223408377 223408377 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 1 223408377 223408377 G A SNP SUSD4 ENST00000344029 human ensembl 74_37 -1 known missense c.790 p.L264F 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 tier1 - - 54 0 0.00 11 23 67.65 THNSL2 0 genome.wustl.edu 37 2 88474919 88474919 + Silent SNP A A G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 2 88474919 88474919 A G SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known silent c.570 p.G190 0.998 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 tier1 - - 94 0 0.00 79 20 20.20 TLR10 0 genome.wustl.edu 37 4 38775539 38775539 + Missense_Mutation SNP T T A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 4 38775539 38775539 T A SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.1673 p.N558I 0.003 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 tier1 - - 41 0 0.00 94 20 17.54 TP53 0 genome.wustl.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 17 7577105 7577105 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.833 p.P278H 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 - - 42 0 0.00 7 29 80.56 TRHDE 0 genome.wustl.edu 37 12 72680484 72680484 + Missense_Mutation SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 12 72680484 72680484 C T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.803 p.S268L 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 49 0 0.00 39 21 35.00 TRIM54 0 genome.wustl.edu 37 2 27529352 27529352 + Silent SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 2 27529352 27529352 C T SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known silent c.1146 p.A382 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 tier1 - - 94 0 0.00 72 23 23.96 UBQLN3 0 genome.wustl.edu 37 11 5529807 5529807 + Missense_Mutation SNP C C A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 11 5529807 5529807 C A SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.982 p.D328Y 0.248 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 27 0 0.00 26 12 31.58 VPS9D1-AS1 0 genome.wustl.edu 37 16 89783106 89783106 + RNA SNP C C T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 16 89783106 89783106 C T SNP VPS9D1-AS1 ENST00000562866 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS9D1-AS1 HGNC ENSG00000261373 tier1 - - 64 0 0.00 46 10 17.86 ZDHHC1 0 genome.wustl.edu 37 16 67440127 67440127 + Silent SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 16 67440127 67440127 G A SNP ZDHHC1 ENST00000348579 human ensembl 74_37 -1 known silent c.228 p.H76 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 tier1 - - 53 0 0.00 41 18 30.51 ZFHX4 0 genome.wustl.edu 37 8 77775833 77775833 + Missense_Mutation SNP A A G TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 8 77775833 77775833 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9883 p.S3295G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 35 0 0.00 35 4 10.26 ZNF775 0 genome.wustl.edu 37 7 150095050 150095050 + Missense_Mutation SNP G G T TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 150095050 150095050 G T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.1481 p.R494L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 tier1 - - 29 0 0.00 12 18 60.00 ZNF804B 0 genome.wustl.edu 37 7 88962883 88962883 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 7 88962883 88962883 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.587 p.R196H 0.077 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 20 0 0.00 12 11 47.83 ZNF831 0 genome.wustl.edu 37 20 57766999 57766999 + Missense_Mutation SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 20 57766999 57766999 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.925 p.A309T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 32 0 0.00 58 8 12.12 ZNF833P 0 genome.wustl.edu 37 19 11759238 11759238 + RNA SNP G G A TCGA-IG-A5S3-01A-11D-A28B-09 TCGA-IG-A5S3-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63fe54fd-11df-4cdc-88a7-bb109a7538f3 7f7a6dc2-630a-4ae3-be7d-c4153ea50472 19 11759238 11759238 G A SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF833P HGNC ENSG00000197332 tier1 - - 159 0 0.00 30 36 54.55