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 ACTN4 0 genome.wustl.edu 37 19 39207769 39207769 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 39207769 39207769 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.956 p.R319H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 48 0 0.00 56 5 8.20 ADCYAP1R1 0 genome.wustl.edu 37 7 31102892 31102892 + Silent SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 7 31102892 31102892 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known silent c.12 p.V4 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 tier1 - - 86 0 0.00 122 7 5.43 ANKRD44 0 genome.wustl.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 2 197943383 197943384 TG - DEL ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_del c.1694_1693 p.H565fs 0.001:0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 17 0 0.00 17 4 19.05 ARSH 0 genome.wustl.edu 37 X 2951149 2951149 + Nonsense_Mutation SNP C C A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 X 2951149 2951149 C A SNP ARSH ENST00000381130 human ensembl 74_37 +1 known nonsense c.1412 p.S471* 0.006 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSH HGNC ENSG00000205667 tier1 - - 74 0 0.00 82 9 9.89 ATP2B4 0 genome.wustl.edu 37 1 203677138 203677138 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 203677138 203677138 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.1463 p.R488H 0.022 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 rs199754074 - 171 0 0.00 122 7 5.43 C7orf62 0 genome.wustl.edu 37 7 88423659 88423659 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 7 88423659 88423659 A G SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known silent c.598 p.L200 0.998 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 tier1 - - 99 0 0.00 111 6 5.13 CCAR1 0 genome.wustl.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 10 70509285 70509286 GA - DEL CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_del c.961_962 p.R324fs 1.000:1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 39 0 0.00 29 2 6.45 CCDC116 0 genome.wustl.edu 37 22 21989249 21989249 + Silent SNP C C G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 22 21989249 21989249 C G SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.897 p.R299 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 124 0 0.00 178 13 6.81 CCT3 0 genome.wustl.edu 37 1 156288766 156288766 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 156288766 156288766 C T SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.652 p.V218I 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 tier1 - - 55 0 0.00 61 6 8.96 CYP51A1 0 genome.wustl.edu 37 7 91756819 91756819 + Frame_Shift_Del DEL T T - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 7 91756819 91756819 T - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_del c.595 p.N199fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 tier1 30 0 0.00 22 4 15.38 DACH1 0 genome.wustl.edu 37 13 72440294 72440294 + Missense_Mutation SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 13 72440294 72440294 A G SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.614 p.V205A 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 - - 77 0 0.00 88 6 6.38 EIF3L 0 genome.wustl.edu 37 22 38251635 38251635 + Silent SNP T T A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 22 38251635 38251635 T A SNP EIF3L ENST00000412331 human ensembl 74_37 +1 known silent c.357 p.A119 0.349 NULL pfam_eIF3l - no_errors EIF3L HGNC ENSG00000100129 tier1 - - 30 0 0.00 42 5 10.64 ENSG00000245156 0 genome.wustl.edu 37 11 66039142 66039143 + RNA INS - - A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 11 66039142 66039143 - A INS ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 tier1 10 0 0.00 8 2 20.00 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 61 0 0.00 49 6 10.91 HEATR4 0 genome.wustl.edu 37 14 73959816 73959816 + Missense_Mutation SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 14 73959816 73959816 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2798 p.L933P 0.003 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 99 0 0.00 91 8 8.08 IGBP1 0 genome.wustl.edu 37 X 69366608 69366608 + Missense_Mutation SNP T T C TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 X 69366608 69366608 T C SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.608 p.I203T 0.924 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 60 0 0.00 60 7 10.45 KIAA1549L 0 genome.wustl.edu 37 11 33604956 33604958 + In_Frame_Del DEL TCA TCA - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 11 33604956 33604958 TCA - DEL KIAA1549L ENST00000389726 human ensembl 74_37 +1 known in_frame_del c.3602_3604 p.I1205in_frame_del 0.999:0.994:1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 19 0 0.00 14 3 17.65 LRRC7 0 genome.wustl.edu 37 1 70501916 70501916 + Splice_Site SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 70501916 70501916 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known splice_site c.1993+1 e17+1 1.000 - - - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 62 0 0.00 56 5 8.20 MSL2 0 genome.wustl.edu 37 3 135913955 135913955 + Missense_Mutation SNP T T A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 135913955 135913955 T A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1 p.M1L 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 tier1 - - 247 0 0.00 216 12 5.26 NOTCH3 0 genome.wustl.edu 37 19 15289896 15289896 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 15289896 15289896 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.3658 p.R1220W 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 62 0 0.00 67 4 5.56 PCDHB4 0 genome.wustl.edu 37 5 140503670 140503670 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 5 140503670 140503670 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.2090 p.S697L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 307 0 0.00 340 24 6.58 PHACTR3 0 genome.wustl.edu 37 20 58318235 58318235 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 20 58318235 58318235 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known silent c.192 p.R64 0.997 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 113 0 0.00 103 9 8.04 PHACTR3 0 genome.wustl.edu 37 20 58318237 58318237 + Missense_Mutation SNP A A T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 20 58318237 58318237 A T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.194 p.N65I 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 116 0 0.00 102 9 8.11 RHBDF1 0 genome.wustl.edu 37 16 110496 110496 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 16 110496 110496 G A SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known silent c.1599 p.S533 0.861 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 tier1 - - 114 0 0.00 127 10 7.30 SACM1L 0 genome.wustl.edu 37 3 45745001 45745001 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 45745001 45745001 G A SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.104 p.R35H 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 tier1 - - 115 0 0.00 87 6 6.45 SARS2 0 genome.wustl.edu 37 19 39435716 39435716 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 39435716 39435716 C T SNP SARS2 ENST00000448145 human ensembl 74_37 -1 known missense c.91 p.V31I 0.998 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pirsf_Ser-tRNA-ligase_type_1,pfam_F-box-assoc_dom,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_Galactose-bd-like,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_F-box-assoc_dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 tier1 - - 144 0 0.00 166 9 5.11 SOX30 0 genome.wustl.edu 37 5 157078464 157078464 + Missense_Mutation SNP C C A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 5 157078464 157078464 C A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.623 p.R208L 0.581 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 - - 212 0 0.00 231 13 5.31 SPATA16 0 genome.wustl.edu 37 3 172674585 172674585 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 172674585 172674585 A G SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.963 p.A321 0.385 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 tier1 - - 67 0 0.00 69 5 6.76 SRRM2 0 genome.wustl.edu 37 16 2815032 2815032 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 16 2815032 2815032 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.4503 p.S1501 0.999 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 187 0 0.00 192 11 5.39 SUGP1 0 genome.wustl.edu 37 19 19387471 19387471 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 19387471 19387471 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1924 p.R642W 0.689 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 tier1 - - 55 0 0.00 51 7 12.07 TBC1D13 0 genome.wustl.edu 37 9 131565732 131565732 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 9 131565732 131565732 G A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.747 p.E249 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 53 0 0.00 73 5 6.41 TMCC1 0 genome.wustl.edu 37 3 129389401 129389401 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 129389401 129389401 G A SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1283 p.S428L 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 tier1 - - 101 0 0.00 110 8 6.78 ZC3H11A 0 genome.wustl.edu 37 1 203819145 203819145 + Missense_Mutation SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 203819145 203819145 A G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.1930 p.R644G 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 tier1 - - 106 0 0.00 90 5 5.26 CCT3 0 genome.wustl.edu 37 1 156288766 156288766 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 156288766 156288766 C T SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.652 p.V218I 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 46 0 0 53 6 10.1695 ATP2B4 0 genome.wustl.edu 37 1 203677138 203677138 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 203677138 203677138 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.1463 p.R488H 0.022 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 153 0 0 112 6 5.08475 PODN 0 genome.wustl.edu 37 1 53535762 53535762 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 53535762 53535762 G A SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.379 p.V127I 0.292 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 56 0 0 76 6 7.31707 LRRC7 0 genome.wustl.edu 37 1 70501916 70501916 + Splice_Site SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 1 70501916 70501916 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known splice_site c.1993+1 e17+1 1.000 - - - no_errors LRRC7 HGNC ENSG00000033122 56 0 0 53 4 7.01754 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 41 0 0 45 3 6.25 TMX2 0 genome.wustl.edu 37 11 57506511 57506511 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 11 57506511 57506511 G A SNP TMX2 ENST00000278422 human ensembl 74_37 +1 known missense c.614 p.R205Q 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX2 HGNC ENSG00000213593 103 0 0 85 5 5.55556 DACH1 0 genome.wustl.edu 37 13 72440294 72440294 + Missense_Mutation SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 13 72440294 72440294 A G SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.614 p.V205A 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 65 0 0 76 5 6.17284 HEATR4 0 genome.wustl.edu 37 14 73959816 73959816 + Missense_Mutation SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 14 73959816 73959816 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2798 p.L933P 0.003 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 87 0 0 83 6 6.74157 DNM1P47 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 15 102304772 102304772 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors DNM1P47 HGNC ENSG00000259660 17 0 0 26 3 10.3448 RHBDF1 0 genome.wustl.edu 37 16 110496 110496 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 16 110496 110496 G A SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known silent c.1599 p.S533 0.861 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 107 0 0 113 9 7.37705 SRRM2 0 genome.wustl.edu 37 16 2815032 2815032 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 16 2815032 2815032 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.4503 p.S1501 0.999 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 170 0 0 165 9 5.17241 CHD3 0 genome.wustl.edu 37 17 7809274 7809274 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 17 7809274 7809274 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4325 p.R1442Q 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 58 0 0 84 8 8.69565 ROCK1 0 genome.wustl.edu 37 18 18548822 18548822 + Splice_Site SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 18 18548822 18548822 C T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known splice_site c.2915-1 e25-1 1.000 - - - no_errors ROCK1 HGNC ENSG00000067900 78 0 0 60 4 6.25 NOTCH3 0 genome.wustl.edu 37 19 15289896 15289896 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 15289896 15289896 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.3658 p.R1220W 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 58 0 0 62 4 6.06061 SUGP1 0 genome.wustl.edu 37 19 19387471 19387471 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 19387471 19387471 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1924 p.R642W 0.689 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 49 0 0 44 7 13.7255 ACTN4 0 genome.wustl.edu 37 19 39207769 39207769 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 39207769 39207769 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.956 p.R319H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 42 0 0 45 4 8.16327 DHX34 0 genome.wustl.edu 37 19 47861151 47861151 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 19 47861151 47861151 C T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.1046 p.P349L 0.473 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 48 0 0 53 3 5.35714 PHACTR3 0 genome.wustl.edu 37 20 58318235 58318235 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 20 58318235 58318235 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known silent c.192 p.R64 0.997 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 110 0 0 100 8 7.40741 PHACTR3 0 genome.wustl.edu 37 20 58318237 58318237 + Missense_Mutation SNP A A T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 20 58318237 58318237 A T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.194 p.N65I 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 113 0 0 99 8 7.47664 CCDC116 0 genome.wustl.edu 37 22 21989249 21989249 + Silent SNP C C G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 22 21989249 21989249 C G SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.897 p.R299 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 108 0 0 152 12 7.31707 EIF3L 0 genome.wustl.edu 37 22 38251635 38251635 + Silent SNP T T A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 22 38251635 38251635 T A SNP EIF3L ENST00000412331 human ensembl 74_37 +1 known silent c.357 p.A119 0.349 NULL pfam_eIF3l - no_errors EIF3L HGNC ENSG00000100129 27 0 0 34 3 8.10811 TMCC1 0 genome.wustl.edu 37 3 129389401 129389401 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 129389401 129389401 G A SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1283 p.S428L 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 94 0 0 107 8 6.95652 MSL2 0 genome.wustl.edu 37 3 135913955 135913955 + Missense_Mutation SNP T T A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 135913955 135913955 T A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1 p.M1L 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 226 0 0 187 10 5.07614 SENP5 0 genome.wustl.edu 37 3 196612955 196612955 + Silent SNP T T C TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 196612955 196612955 T C SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known silent c.903 p.C301 0.475 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 102 0 0 123 7 5.38462 SACM1L 0 genome.wustl.edu 37 3 45745001 45745001 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 45745001 45745001 G A SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.104 p.R35H 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 96 0 0 73 4 5.19481 DCP1A 0 genome.wustl.edu 37 3 53324883 53324883 + Missense_Mutation SNP T T A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 3 53324883 53324883 T A SNP DCP1A ENST00000607628 human ensembl 74_37 -1 known missense c.1387 p.M463L 1.000 NULL pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 18 0 0 20 3 13.0435 PCDHB4 0 genome.wustl.edu 37 5 140503670 140503670 + Missense_Mutation SNP C C T TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 5 140503670 140503670 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.2090 p.S697L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 271 0 0 304 18 5.59006 GRIA1 0 genome.wustl.edu 37 5 153056676 153056676 + Silent SNP T T C TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 5 153056676 153056676 T C SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.1014 p.A338 0.907 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 34 0 0 35 4 10.2564 SOX30 0 genome.wustl.edu 37 5 157078464 157078464 + Missense_Mutation SNP C C A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 5 157078464 157078464 C A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.623 p.R208L 0.581 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 182 0 0 197 12 5.74163 DDR1 0 genome.wustl.edu 37 6 30863264 30863264 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 6 30863264 30863264 G A SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.1597 p.A533T 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 230 0 0 242 21 7.98479 C7orf62 0 genome.wustl.edu 37 7 88423659 88423659 + Silent SNP A A G TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 7 88423659 88423659 A G SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known silent c.598 p.L200 0.998 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 91 0 0 100 6 5.66038 ZNF655 0 genome.wustl.edu 37 7 99171017 99171017 + Missense_Mutation SNP T T C TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 7 99171017 99171017 T C SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known missense c.1391 p.M464T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 109 0 0 112 6 5.08475 TBC1D13 0 genome.wustl.edu 37 9 131565732 131565732 + Silent SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 9 131565732 131565732 G A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.747 p.E249 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 51 0 0 61 5 7.57576 PLXNA3 0 genome.wustl.edu 37 X 153691738 153691738 + Missense_Mutation SNP G G A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 X 153691738 153691738 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1322 p.R441Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 262 1 0.380228 256 18 6.56934 ARSH 0 genome.wustl.edu 37 X 2951149 2951149 + Nonsense_Mutation SNP C C A TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 X 2951149 2951149 C A SNP ARSH ENST00000381130 human ensembl 74_37 +1 known nonsense c.1412 p.S471* 0.006 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSH HGNC ENSG00000205667 73 0 0 75 8 9.63855 KRTAP2-4 0 genome.wustl.edu 37 17 39221759 39221773 + In_Frame_Del DEL GCAGGGGGGCCGGCA GCAGGGGGGCCGGCA - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 GCAGGGGGGCCGGCA GCAGGGGGGCCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 17 39221759 39221773 GCAGGGGGGCCGGCA - DEL KRTAP2-4 ENST00000394015 human ensembl 74_37 -1 known in_frame_del c.339_325 p.CRPPC109in_frame_del 1.000:1.000:1.000:1.000:1.000:0.978:0.978:0.995:0.996:0.982:1.000:0.999:1.000:1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-4 HGNC ENSG00000213417 15 0 0 14 4 22.2222 TP53 0 genome.wustl.edu 37 17 7579394 7579400 + Frame_Shift_Del DEL GGGACAG GGGACAG - TCGA-D7-A74B-01A-12D-A33T-08 TCGA-D7-A74B-10A-01D-A33W-08 GGGACAG GGGACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 71cf96d3-b837-45d3-8be7-6cbfae3e0e87 a3c16587-466c-4577-9602-b88d228ab4b1 17 7579394 7579400 GGGACAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.293_287 p.S96fs 1.000:1.000:1.000:1.000:0.963:0.304:0.241 pfam_p53_DNA-bd 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 106 0 0 100 10 9.09091