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 AARS2 0 genome.wustl.edu 37 6 44271076 44271076 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 6 44271076 44271076 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2092 p.E698K 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 36 0 0.00 35 4 10.26 ABCC12 0 genome.wustl.edu 37 16 48173093 48173093 + Missense_Mutation SNP A A T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 16 48173093 48173093 A T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.812 p.V271D 0.927 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 84 0 0.00 81 11 11.96 ABLIM1 0 genome.wustl.edu 37 10 116307527 116307527 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 10 116307527 116307527 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.682 p.G228S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 tier1 rs200441310 - 50 0 0.00 18 15 45.45 ACADSB 0 genome.wustl.edu 37 10 124800822 124800822 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 10 124800822 124800822 G C SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.608 p.G203A 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 tier1 - - 129 0 0.00 119 14 10.53 ADAMTS18 0 genome.wustl.edu 37 16 77465418 77465418 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 16 77465418 77465418 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.269 p.A90V 0.006 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 263 0 0.00 192 53 21.46 ADORA3 0 genome.wustl.edu 37 1 112031300 112031300 + Frame_Shift_Del DEL T T - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 112031300 112031300 T - DEL ADORA3 ENST00000369716 human ensembl 74_37 -1 known frame_shift_del c.804 p.D269fs 0.700 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 tier1 36 0 0.00 28 2 6.67 ADRA2B 0 genome.wustl.edu 37 2 96781709 96781709 + Silent SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 2 96781709 96781709 C A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known silent c.180 p.L60 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 tier1 - - 30 0 0.00 41 6 12.77 ALMS1 0 genome.wustl.edu 37 2 73717326 73717327 + Frame_Shift_Ins INS - - G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 2 73717326 73717327 - G INS ALMS1 ENST00000264448 human ensembl 74_37 +1 known frame_shift_ins c.8237_8238 p.V2748fs 0.921:0.931 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 136 0 0.00 117 37 24.03 APOBR 0 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 19 0 0.00 23 6 20.69 ASGR1 0 genome.wustl.edu 37 17 7077311 7077311 + Missense_Mutation SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 7077311 7077311 C A SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.670 p.V224L 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 tier1 - - 67 0 0.00 71 6 7.79 B3GNT1 0 genome.wustl.edu 37 11 66114479 66114479 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 66114479 66114479 G A SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.538 p.R180W 1.000 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 tier1 - - 28 0 0.00 33 4 10.81 C2orf49 0 genome.wustl.edu 37 2 105959479 105959479 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 2 105959479 105959479 G A SNP C2orf49 ENST00000258457 human ensembl 74_37 +1 known silent c.441 p.S147 0.357 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 tier1 - - 80 0 0.00 46 21 31.34 CALB1 0 genome.wustl.edu 37 8 91094290 91094290 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 8 91094290 91094290 G A SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known silent c.120 p.I40 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 tier1 - - 151 0 0.00 179 14 7.25 CARD8 0 genome.wustl.edu 37 19 48715026 48715026 + Frame_Shift_Del DEL T T - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 48715026 48715026 T - DEL CARD8 ENST00000391898 human ensembl 74_37 -1 known frame_shift_del c.1555 p.R519fs 0.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 tier1 163 0 0.00 123 47 27.65 CARD8 0 genome.wustl.edu 37 19 48715027 48715027 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 48715027 48715027 G A SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known silent c.1554 p.F518 0.003 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 tier1 - - 165 0 0.00 119 52 30.41 CHD6 0 genome.wustl.edu 37 20 40192674 40192674 + Silent SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 20 40192674 40192674 C T SNP CHD6 ENST00000373222 human ensembl 74_37 -1 known silent c.114 p.Q38 0.009 NULL NULL - no_errors CHD6 HGNC ENSG00000124177 22 0 0.00 30 4 11.76 CR1L 0 genome.wustl.edu 37 1 207890962 207890962 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 207890962 207890962 G A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.1568 p.R523H 0.783 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 tier1 - - 114 0 0.00 119 10 7.75 CYP2R1 0 genome.wustl.edu 37 11 14913629 14913629 + Silent SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 14913629 14913629 C A SNP CYP2R1 ENST00000334636 human ensembl 74_37 -1 known silent c.123 p.P41 0.991 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC ENSG00000186104 21 0 0.00 25 4 13.79 DCAF13 0 genome.wustl.edu 37 8 104432650 104432650 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 8 104432650 104432650 G C SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.685 p.E229Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 73 0 0.00 59 15 20.27 DMKN 0 genome.wustl.edu 37 19 36002419 36002421 + In_Frame_Del DEL CCA CCA - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 36002419 36002421 CCA - DEL DMKN ENST00000339686 human ensembl 74_37 -1 known in_frame_del c.812_810 p.G271in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors DMKN HGNC ENSG00000161249 tier1 8 0 0.00 3 3 50.00 DNAH17 0 genome.wustl.edu 37 17 76497386 76497386 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 76497386 76497386 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.5321 p.R1774Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 30 0 0.00 32 13 28.89 DST 0 genome.wustl.edu 37 6 56401712 56401712 + Silent SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 6 56401712 56401712 G C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.16542 p.P5514 0.476 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 56 0 0.00 48 19 28.36 DZIP1L 0 genome.wustl.edu 37 3 137803091 137803091 + Missense_Mutation SNP T T A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 3 137803091 137803091 T A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.1067 p.Q356L 1.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 21 0 0.00 23 66 74.16 EEF2K 0 genome.wustl.edu 37 16 22268122 22268122 + Silent SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 16 22268122 22268122 C G SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known silent c.672 p.P224 0.985 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 tier1 - - 38 0 0.00 42 7 14.29 EMX2 0 genome.wustl.edu 37 10 119305163 119305163 + Missense_Mutation SNP A A T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 10 119305163 119305163 A T SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known missense c.427 p.S143C 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 42 0 0.00 37 4 9.76 ENSG00000203849 0 genome.wustl.edu 37 1 142713310 142713310 + RNA SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 142713310 142713310 C G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.180 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 38 0 0.00 34 5 12.82 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117491 117491 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 GL000205.1 117491 117491 G C SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.122 p.G41A NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 39 0 0.00 22 5 18.52 ENSG00000231080 0 genome.wustl.edu 37 1 67292738 67292738 + RNA DEL A A - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 67292738 67292738 A - DEL ENSG00000231080 ENST00000456389 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-342H21.2 Clone_based_vega_gene ENSG00000231080 tier1 28 0 0.00 47 4 7.84 FAM120A 0 genome.wustl.edu 37 9 96312894 96312894 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 9 96312894 96312894 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.2279 p.R760Q 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 59 0 0.00 36 6 14.29 FAT4 0 genome.wustl.edu 37 4 126336569 126336569 + Missense_Mutation SNP A A C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 4 126336569 126336569 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6451 p.N2151H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 73 0 0.00 65 10 13.33 FLNC 0 genome.wustl.edu 37 7 128492694 128492694 + Silent SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 128492694 128492694 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.5892 p.D1964 0.785 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 56 0 0.00 82 15 15.46 FOXP2 0 genome.wustl.edu 37 7 114304485 114304485 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 114304485 114304485 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.2072 p.P691L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 tier1 rs145254341 - 50 0 0.00 60 6 9.09 FREM2 0 genome.wustl.edu 37 13 39262883 39262883 + Missense_Mutation SNP T T G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 13 39262883 39262883 T G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.1402 p.L468V 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 44 0 0.00 57 6 9.52 FRG1B 0 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 tier1 9 0 0.00 10 2 16.67 FRMPD1 0 genome.wustl.edu 37 9 37746718 37746718 + Silent SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 9 37746718 37746718 C A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.4689 p.A1563 0.272 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 tier1 - - 131 0 0.00 99 21 17.36 FRY 0 genome.wustl.edu 37 13 32776595 32776595 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 13 32776595 32776595 G C SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3949 p.V1317L 0.956 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 82 0 0.00 94 14 12.96 HYOU1 0 genome.wustl.edu 37 11 118925960 118925960 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 118925960 118925960 C T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.356 p.R119H 0.988 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 80 0 0.00 112 8 6.67 IFI44 0 genome.wustl.edu 37 1 79120980 79120980 + RNA SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 79120980 79120980 C A SNP IFI44 ENST00000467790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IFI44 HGNC ENSG00000137965 tier1 - - 36 0 0.00 37 6 13.95 IL1RAPL1 0 genome.wustl.edu 37 X 29973586 29973586 + Silent SNP T T G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 X 29973586 29973586 T G SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1740 p.P580 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 21 0 0.00 18 5 21.74 KCTD15 0 genome.wustl.edu 37 19 34302362 34302362 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 34302362 34302362 G A SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.598 p.V200I 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 tier1 - - 25 0 0.00 25 12 32.43 KCTD16 0 genome.wustl.edu 37 5 143853557 143853557 + Silent SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 5 143853557 143853557 C A SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.1167 p.L389 0.726 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 71 0 0.00 55 13 19.12 KIT 0 genome.wustl.edu 37 4 55565832 55565832 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 4 55565832 55565832 C G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.656 p.A219G 0.003 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 76 0 0.00 44 6 12.00 KRTAP4-8 0 genome.wustl.edu 37 17 39254133 39254133 + Missense_Mutation SNP G G T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 39254133 39254133 G T SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.204 p.S68R 0.013 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 tier1 rs200462175 - 20 0 0.00 19 8 29.63 LPAL2 0 genome.wustl.edu 37 6 160913951 160913951 + RNA SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 6 160913951 160913951 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 94 0 0.00 78 17 17.89 LRFN4 0 genome.wustl.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 66625231 66625233 CTG - DEL LRFN4 ENST00000309602 human ensembl 74_37 +1 known in_frame_del c.16_18 p.L9in_frame_del 1.000:1.000:1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 tier1 24 0 0.00 22 3 12.00 LRRC37A3 0 genome.wustl.edu 37 17 62851994 62851994 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 62851994 62851994 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4823 p.R1608Q 0.029 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 106 0 0.00 97 16 14.16 LRRC43 0 genome.wustl.edu 37 12 122677464 122677464 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 12 122677464 122677464 C T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1262 p.S421L 0.001 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 tier1 rs201663367 - 26 0 0.00 29 5 14.71 LRRC6 0 genome.wustl.edu 37 8 133622429 133622429 + Missense_Mutation SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 8 133622429 133622429 C A SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.1123 p.V375F 0.424 superfamily_HSP20-like_chaperone,pfscan_CS_dom superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 144 0 0.00 138 21 13.21 LRRC7 0 genome.wustl.edu 37 1 70489009 70489009 + Missense_Mutation SNP G G T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 70489009 70489009 G T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1632 p.L544F 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 71 0 0.00 68 15 18.07 LRRK2 0 genome.wustl.edu 37 12 40715968 40715968 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 12 40715968 40715968 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5302 p.P1768S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 47 0 0.00 39 4 9.30 LTBP1 0 genome.wustl.edu 37 2 33413915 33413915 + Silent SNP A A G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 2 33413915 33413915 A G SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.1698 p.S566 0.993 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 76 0 0.00 67 20 22.99 MAPRE3 0 genome.wustl.edu 37 2 27247015 27247015 + Missense_Mutation SNP T T A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 2 27247015 27247015 T A SNP MAPRE3 ENST00000233121 human ensembl 74_37 +1 known missense c.319 p.F107I 1.000 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 tier1 - - 43 0 0.00 35 15 30.00 MID2 0 genome.wustl.edu 37 X 107167699 107167699 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 X 107167699 107167699 G A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.1562 p.S521N 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 tier1 - - 25 0 0.00 26 13 33.33 MIR26A1 0 genome.wustl.edu 37 3 38010946 38010946 + RNA SNP A A G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 3 38010946 38010946 A G SNP MIR26A1 ENST00000362205 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR26A1 HGNC ENSG00000199075 tier1 - - 11 0 0.00 14 5 26.32 MMP7 0 genome.wustl.edu 37 11 102395755 102395755 + Silent SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 102395755 102395755 C T SNP MMP7 ENST00000260227 human ensembl 74_37 -1 known silent c.525 p.T175 0.001 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP7 HGNC ENSG00000137673 tier1 - - 39 0 0.00 43 7 14.00 MRPL16 0 genome.wustl.edu 37 11 59577343 59577343 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 59577343 59577343 C G SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.106 p.V36L 0.999 NULL pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 tier1 - - 48 0 0.00 15 14 48.28 MYBPC2 0 genome.wustl.edu 37 19 50963377 50963377 + Frame_Shift_Del DEL G G - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 50963377 50963377 G - DEL MYBPC2 ENST00000357701 human ensembl 74_37 +1 known frame_shift_del c.2872 p.D958fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 9 0 0.00 4 2 33.33 MYCBP2 0 genome.wustl.edu 37 13 77671583 77671583 + Frame_Shift_Del DEL C C - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 13 77671583 77671583 C - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.9706 p.E3236fs 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 50 0 0.00 51 11 17.74 NOL6 0 genome.wustl.edu 37 9 33463284 33463284 + Silent SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 9 33463284 33463284 C T SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known silent c.3150 p.L1050 0.998 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 tier1 - - 17 0 0.00 17 5 22.73 NPAT 0 genome.wustl.edu 37 11 108044306 108044306 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 108044306 108044306 C G SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.1405 p.E469Q 0.997 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 134 0 0.00 118 28 19.18 NR3C1 0 genome.wustl.edu 37 5 142662237 142662237 + Missense_Mutation SNP A A C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 5 142662237 142662237 A C SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.2080 p.Y694D 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 tier1 - - 106 0 0.00 72 34 32.08 OBSCN 0 genome.wustl.edu 37 1 228482599 228482599 + Missense_Mutation SNP G G T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 228482599 228482599 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11514 p.E3838D 0.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 145 0 0.00 103 47 31.33 OR1L6 0 genome.wustl.edu 37 9 125512558 125512558 + Silent SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 9 125512558 125512558 C G SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known silent c.540 p.L180 0.067 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 tier1 - - 146 0 0.00 137 27 16.36 OR4C15 0 genome.wustl.edu 37 11 55322128 55322128 + Silent SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 55322128 55322128 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.346 p.L116 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 156 0 0.00 129 22 14.57 OR4N4 0 genome.wustl.edu 37 15 22382870 22382870 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 15 22382870 22382870 C T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.398 p.S133L 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 199 0 0.00 167 10 5.65 PKD1L1 0 genome.wustl.edu 37 7 47882700 47882700 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 47882700 47882700 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.5305 p.A1769T 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 48 0 0.00 32 8 20.00 PLXNA4 0 genome.wustl.edu 37 7 131833360 131833360 + Frame_Shift_Del DEL T T - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 131833360 131833360 T - DEL PLXNA4 ENST00000321063 human ensembl 74_37 -1 known frame_shift_del c.4706 p.D1569fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 82 0 0.00 106 11 9.40 POLR2C 0 genome.wustl.edu 37 16 57504920 57504920 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 16 57504920 57504920 G A SNP POLR2C ENST00000219252 human ensembl 74_37 +1 known silent c.717 p.L239 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 tier1 - - 73 0 0.00 63 11 14.86 PRKAA2 0 genome.wustl.edu 37 1 57170027 57170027 + Missense_Mutation SNP A A G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 1 57170027 57170027 A G SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1172 p.K391R 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 59 0 0.00 49 10 16.95 RAN 0 genome.wustl.edu 37 12 131359214 131359214 + Missense_Mutation SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 12 131359214 131359214 T C SNP RAN ENST00000392369 human ensembl 74_37 +1 known missense c.371 p.V124A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 tier1 - - 80 0 0.00 64 20 23.53 RASD1 0 genome.wustl.edu 37 17 17398964 17398964 + Missense_Mutation SNP G G T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 17398964 17398964 G T SNP RASD1 ENST00000225688 human ensembl 74_37 -1 known missense c.321 p.N107K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RASD1 HGNC ENSG00000108551 tier1 - - 13 0 0.00 14 16 53.33 ROBO2 0 genome.wustl.edu 37 3 77626718 77626718 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 3 77626718 77626718 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2281 p.D761N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 30 0 0.00 51 4 7.27 SALL4 0 genome.wustl.edu 37 20 50406647 50406647 + Missense_Mutation SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 20 50406647 50406647 T C SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2375 p.N792S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 tier1 - - 70 0 0.00 57 76 57.14 SCG5 0 genome.wustl.edu 37 15 32976787 32976787 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 15 32976787 32976787 G A SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known missense c.406 p.D136N 0.999 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 tier1 - - 26 0 0.00 27 11 28.21 SEMA3E 0 genome.wustl.edu 37 7 83098560 83098560 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 83098560 83098560 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.335 p.A112V 0.469 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 - - 92 0 0.00 145 8 5.19 SERPINB2 0 genome.wustl.edu 37 18 61569114 61569114 + Missense_Mutation SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 18 61569114 61569114 T C SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.676 p.S226P 0.011 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 tier1 - - 120 0 0.00 99 6 5.71 SOX5 0 genome.wustl.edu 37 12 23716293 23716293 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 12 23716293 23716293 C G SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1387 p.A463P 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 121 0 0.00 129 18 12.24 SPDYE3 0 genome.wustl.edu 37 7 99914756 99914756 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 99914756 99914756 C T SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known missense c.1324 p.R442C 0.006 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 tier1 - - 137 0 0.00 307 49 13.76 SPICE1 0 genome.wustl.edu 37 3 113172591 113172591 + Missense_Mutation SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 3 113172591 113172591 C A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1864 p.V622F 0.001 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 tier1 - - 87 0 0.00 72 28 28.00 SYNE1 0 genome.wustl.edu 37 6 152614777 152614777 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 6 152614777 152614777 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.17958 p.L5986 0.214 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 57 0 0.00 45 5 10.00 TCF21 0 genome.wustl.edu 37 6 134210826 134210826 + Frame_Shift_Del DEL G G - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 6 134210826 134210826 G - DEL TCF21 ENST00000237316 human ensembl 74_37 +1 known frame_shift_del c.291 p.A98fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 tier1 69 0 0.00 92 8 8.00 TIMM44 0 genome.wustl.edu 37 19 7998860 7998860 + Missense_Mutation SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 7998860 7998860 T C SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known missense c.572 p.D191G 0.981 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 26 0 0.00 29 3 9.38 TMPRSS11F 0 genome.wustl.edu 37 4 68964691 68964691 + Missense_Mutation SNP T T C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 4 68964691 68964691 T C SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.77 p.D26G 0.998 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 tier1 - - 50 0 0.00 27 10 27.03 TNFSF15 0 genome.wustl.edu 37 9 117568230 117568230 + Missense_Mutation SNP G G C TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 9 117568230 117568230 G C SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.63 p.H21Q 0.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 tier1 - - 60 0 0.00 60 5 7.58 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 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 - - 59 0 0.00 43 12 21.82 TRIML1 0 genome.wustl.edu 37 4 189060983 189060983 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 4 189060983 189060983 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.271 p.E91K 0.019 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 tier1 - - 44 0 0.00 21 6 22.22 TTC19 0 genome.wustl.edu 37 17 15907172 15907172 + Missense_Mutation SNP A A T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 17 15907172 15907172 A T SNP TTC19 ENST00000486880 human ensembl 74_37 +1 known missense c.853 p.S285C 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 tier1 - - 48 0 0.00 44 12 21.43 UNC79 0 genome.wustl.edu 37 14 94079428 94079431 + Frame_Shift_Del DEL AAGT AAGT - TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 14 94079428 94079431 AAGT - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4106_4107 p.Q1369fs 1.000:0.995 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 110 0 0.00 96 8 7.69 USMG5 0 genome.wustl.edu 37 10 105151963 105151963 + Silent SNP C C A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 10 105151963 105151963 C A SNP USMG5 ENST00000309579 human ensembl 74_37 -1 known silent c.165 p.V55 1.000 prints_DAPIT prints_DAPIT - no_errors USMG5 HGNC ENSG00000173915 tier1 - - 50 0 0.00 46 6 11.54 VSIG4 0 genome.wustl.edu 37 X 65259789 65259789 + Missense_Mutation SNP A A T TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 X 65259789 65259789 A T SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known missense c.52 p.Y18N 0.390 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 tier1 - - 34 0 0.00 28 13 31.71 WDR66 0 genome.wustl.edu 37 12 122359392 122359392 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 12 122359392 122359392 G A SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.181 p.E61K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 rs114531812 - 25 0 0.00 32 6 15.79 ZBED4 0 genome.wustl.edu 37 22 50277672 50277672 + Nonsense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 22 50277672 50277672 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known nonsense c.362 p.W121* 1.000 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 - - 63 0 0.00 57 11 16.18 ZDHHC5 0 genome.wustl.edu 37 11 57460088 57460088 + Silent SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 11 57460088 57460088 G A SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known silent c.666 p.T222 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 tier1 rs200838978 - 29 0 0.00 29 4 12.12 ZKSCAN1 0 genome.wustl.edu 37 7 99631375 99631375 + Missense_Mutation SNP T T G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 7 99631375 99631375 T G SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.1247 p.L416R 0.297 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 tier1 - - 140 0 0.00 94 262 73.60 ZNF217 0 genome.wustl.edu 37 20 52188377 52188377 + Missense_Mutation SNP G G A TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 20 52188377 52188377 G A SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.3053 p.S1018L 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 tier1 - - 86 0 0.00 507 43 7.80 ZNF584 0 genome.wustl.edu 37 19 58929027 58929027 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 58929027 58929027 C G SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.1142 p.S381C 0.011 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 tier1 - - 43 0 0.00 28 5 15.15 ZNF628 0 genome.wustl.edu 37 19 55994897 55994898 + Frame_Shift_Ins INS - - G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 55994897 55994898 - G INS ZNF628 ENST00000598519 human ensembl 74_37 +1 known frame_shift_ins c.2337_2338 p.L781fs 0.254:0.357 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 tier1 24 0 0.00 14 4 22.22 ZNF813 0 genome.wustl.edu 37 19 53994551 53994551 + Missense_Mutation SNP C C G TCGA-RD-A8MW-01A-11D-A364-08 TCGA-RD-A8MW-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 187d95a6-8b53-43be-81c5-e105b55ecc1b 97ef55ba-d2c5-4842-a61a-b5da5f9808c8 19 53994551 53994551 C G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1065 p.F355L 0.093 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 tier1 - - 147 0 0.00 145 35 19.44