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 ENSG00000203849 0 genome.wustl.edu 37 1 142713900 142713900 + RNA SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 142713900 142713900 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 69 0 0 47 5 9.61538 CD160 0 genome.wustl.edu 37 1 145699047 145699047 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 145699047 145699047 G A SNP CD160 ENST00000235933 human ensembl 74_37 -1 known silent c.444 p.H148 0.000 NULL NULL - no_errors CD160 HGNC ENSG00000117281 97 0 0 43 5 10.4167 FLG 0 genome.wustl.edu 37 1 152280800 152280800 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 152280800 152280800 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6562 p.S2188R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 664 1 0.150376 506 76 13.0584 FCRL3 0 genome.wustl.edu 37 1 157667628 157667628 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 157667628 157667628 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.380 p.N127T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 126 0 0 57 8 12.3077 OR10R2 0 genome.wustl.edu 37 1 158449668 158449668 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 158449668 158449668 A T SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.1 p.M1L 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 95 0 0 55 11 16.6667 SELP 0 genome.wustl.edu 37 1 169564011 169564011 + Missense_Mutation SNP C C G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 169564011 169564011 C G SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.2206 p.E736Q 0.928 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 116 0 0 52 11 17.4603 BRINP2 0 genome.wustl.edu 37 1 177250278 177250278 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 177250278 177250278 A G SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1966 p.S656G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 97 0 0 43 10 18.8679 CACNA1E 0 genome.wustl.edu 37 1 181727164 181727164 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 181727164 181727164 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4411 p.V1471M 0.993 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 161 1 0.617284 120 24 16.6667 TAS1R2 0 genome.wustl.edu 37 1 19181198 19181198 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 19181198 19181198 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.766 p.R256C 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 27 0 0 26 5 16.129 PLXNA2 0 genome.wustl.edu 37 1 208390683 208390683 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 208390683 208390683 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.585 p.F195 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 PLXNA2 HGNC ENSG00000076356 272 0 0 232 33 12.4528 RPS6KC1 0 genome.wustl.edu 37 1 213349743 213349743 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 213349743 213349743 C T SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.952 p.P318S 1.000 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 208 0 0 124 19 13.2867 RYR2 0 genome.wustl.edu 37 1 237817655 237817655 + Nonsense_Mutation SNP G G T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 237817655 237817655 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.7900 p.E2634* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 67 0 0 39 4 9.30233 E2F2 0 genome.wustl.edu 37 1 23836399 23836399 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 23836399 23836399 G A SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known silent c.1287 p.Y429 0.839 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 35 0 0 27 6 18.1818 OR2T29 0 genome.wustl.edu 37 1 248722578 248722578 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 248722578 248722578 A G SNP OR2T29 ENST00000328570 human ensembl 74_37 -1 known missense c.215 p.L72P 0.102 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T29 HGNC ENSG00000182783 49 0 0 45 6 11.7647 CEP85 0 genome.wustl.edu 37 1 26566316 26566316 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 26566316 26566316 C T SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known silent c.42 p.H14 0.013 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 105 1 0.943396 43 7 14 ARID1A 0 genome.wustl.edu 37 1 27100357 27100357 + Nonsense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 27100357 27100357 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.4069 p.Q1357* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 380 0 0 290 33 10.2167 CYP4Z1 0 genome.wustl.edu 37 1 47564903 47564903 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 47564903 47564903 G A SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known silent c.1014 p.Q338 0.161 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 85 0 0 58 4 6.45161 C1orf173 0 genome.wustl.edu 37 1 75038657 75038657 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 75038657 75038657 A C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2737 p.L913V 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 357 0 0 212 27 11.2971 BTBD8 0 genome.wustl.edu 37 1 92573497 92573497 + Missense_Mutation SNP G G T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 1 92573497 92573497 G T SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known missense c.601 p.V201L 0.005 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 108 0 0 53 12 18.4615 SEC31B 0 genome.wustl.edu 37 10 102257863 102257863 + Missense_Mutation SNP C C A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 102257863 102257863 C A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.1786 p.A596S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 155 0 0 109 15 12.0968 C10orf118 0 genome.wustl.edu 37 10 115910947 115910947 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 115910947 115910947 T G SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.792 p.E264D 0.999 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 72 0 0 19 4 17.3913 CCDC172 0 genome.wustl.edu 37 10 118101582 118101582 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 118101582 118101582 A G SNP CCDC172 ENST00000333254 human ensembl 74_37 +1 known missense c.317 p.D106G 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 65 0 0 28 9 24.3243 PRLHR 0 genome.wustl.edu 37 10 120354492 120354492 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 120354492 120354492 G A SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.265 p.R89C 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 141 0 0 116 17 12.782 RPP38 0 genome.wustl.edu 37 10 15146039 15146039 + Silent SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 15146039 15146039 T G SNP RPP38 ENST00000378197 human ensembl 74_37 +1 known silent c.726 p.P242 0.036 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 145 0 0 71 7 8.97436 PLXDC2 0 genome.wustl.edu 37 10 20465942 20465942 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 20465942 20465942 A C SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.898 p.T300P 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 143 0 0 69 13 15.8537 MYO3A 0 genome.wustl.edu 37 10 26462823 26462823 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 26462823 26462823 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3630 p.E1210D 0.592 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 111 0 0 93 15 13.8889 ZEB1 0 genome.wustl.edu 37 10 31810825 31810825 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 31810825 31810825 A C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.2565 p.Q855H 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 84 0 0 57 6 9.52381 AKR1C1 0 genome.wustl.edu 37 10 5008119 5008119 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 5008119 5008119 A C SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known missense c.98 p.K33T 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 105 0 0 62 6 8.82353 SLIT1 0 genome.wustl.edu 37 10 98773796 98773796 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 10 98773796 98773796 T C SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.3089 p.Q1030R 1.000 smart_EGF-like_Ca-bd_dom,smart_Fol_N,smart_EG-like_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 40 0 0 40 6 13.0435 ATM 0 genome.wustl.edu 37 11 108119689 108119689 + Missense_Mutation SNP G G T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 108119689 108119689 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1095 p.E365D 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 75 0 0 36 3 7.69231 OR10G9 0 genome.wustl.edu 37 11 123894086 123894086 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 123894086 123894086 T G SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.367 p.L123V 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 64 0 0 47 8 14.5455 OR8B4 0 genome.wustl.edu 37 11 124294552 124294552 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 124294552 124294552 A C SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.216 p.C72W 0.013 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 105 0 0 94 9 8.73786 RAG2 0 genome.wustl.edu 37 11 36614484 36614484 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 36614484 36614484 T C SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.1235 p.E412G 1.000 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 174 0 0 103 14 11.9658 OR4C12 0 genome.wustl.edu 37 11 50003180 50003180 + Silent SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 50003180 50003180 T C SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.858 p.T286 0.761 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 64 0 0 49 6 10.9091 OR5L2 0 genome.wustl.edu 37 11 55595336 55595336 + Silent SNP C C A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 55595336 55595336 C A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known silent c.642 p.I214 0.030 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 206 0 0 123 27 18 OR10AG1 0 genome.wustl.edu 37 11 55735873 55735873 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 55735873 55735873 A C SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.67 p.L23V 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 106 0 0 64 4 5.88235 OR5M8 0 genome.wustl.edu 37 11 56258416 56258416 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 56258416 56258416 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.431 p.I144T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 150 0 0 87 21 19.4444 TRIM5 0 genome.wustl.edu 37 11 5700392 5700392 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 5700392 5700392 A T SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.425 p.L142H 0.009 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 356 0 0 186 17 8.37438 SLC43A3 0 genome.wustl.edu 37 11 57193027 57193027 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 57193027 57193027 G A SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.301 p.R101C 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 109 1 0.909091 53 12 18.4615 ARHGEF17 0 genome.wustl.edu 37 11 73022184 73022184 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 73022184 73022184 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.2501 p.R834H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 182 0 0 104 23 18.1102 GRM5 0 genome.wustl.edu 37 11 88241767 88241767 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 11 88241767 88241767 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.3632 p.S1211L 1.000 pfam_Metabotropic_Glu_rcpt_Homer-bd pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 72 0 0 44 6 12 ANO4 0 genome.wustl.edu 37 12 101477501 101477501 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 101477501 101477501 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.1441 p.R481W 0.999 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 140 0 0 80 10 11.1111 FBXO21 0 genome.wustl.edu 37 12 117593659 117593659 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 117593659 117593659 C T SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1633 p.G545S 1.000 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 48 0 0 55 4 6.77966 RIMBP2 0 genome.wustl.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 130884319 130884319 A C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.3037 p.F1013V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 111 0 0 64 6 8.57143 RIMBP2 0 genome.wustl.edu 37 12 130935764 130935764 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 130935764 130935764 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.429 p.S143 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 143 0 0 105 12 10.2564 A2ML1 0 genome.wustl.edu 37 12 9020616 9020616 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 9020616 9020616 C T SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.3896 p.T1299M 0.318 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 118 0 0 74 7 8.64198 C12orf55 0 genome.wustl.edu 37 12 97158901 97158901 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 97158901 97158901 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.8186 p.N2729T 0.265 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 154 0 0 72 8 10 NALCN 0 genome.wustl.edu 37 13 101736109 101736109 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 101736109 101736109 T G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3536 p.K1179T 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 96 0 0 68 4 5.55556 NALCN 0 genome.wustl.edu 37 13 101756694 101756694 + Silent SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 101756694 101756694 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.2841 p.T947 0.614 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 116 0 0 77 5 6.09756 MYO16 0 genome.wustl.edu 37 13 109704747 109704747 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 109704747 109704747 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2906 p.K969T 0.068 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 132 0 0 72 8 10 TUBGCP3 0 genome.wustl.edu 37 13 113212596 113212596 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 113212596 113212596 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known silent c.462 p.S154 0.001 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 99 0 0 71 10 12.3457 RNF6 0 genome.wustl.edu 37 13 26788949 26788949 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 26788949 26788949 C T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1070 p.R357Q 0.838 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 108 0 0 52 7 11.8644 DCLK1 0 genome.wustl.edu 37 13 36699995 36699995 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 36699995 36699995 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.280 p.T94P 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 120 0 0 82 21 20.3883 PCDH17 0 genome.wustl.edu 37 13 58208321 58208321 + Silent SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 58208321 58208321 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1641 p.A547 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 103 0 0 75 13 14.7727 RNF113B 0 genome.wustl.edu 37 13 98828825 98828825 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 13 98828825 98828825 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.666 p.L222 0.981 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 177 0 0 108 7 6.08696 LRFN5 0 genome.wustl.edu 37 14 42356155 42356155 + Missense_Mutation SNP C C A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 14 42356155 42356155 C A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.327 p.N109K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 77 0 0 39 8 17.0213 SERPINA9 0 genome.wustl.edu 37 14 94936126 94936126 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 14 94936126 94936126 T C SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.106 p.I36V 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 163 0 0 122 15 10.9489 HERC2P3 0 genome.wustl.edu 37 15 20588474 20588474 + RNA SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 15 20588474 20588474 C T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors HERC2P3 HGNC ENSG00000180229 39 0 0 32 8 20 NPAP1 0 genome.wustl.edu 37 15 24923084 24923084 + Silent SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 15 24923084 24923084 A T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2070 p.S690 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 300 0 0 193 18 8.53081 SNORD116-15 0 genome.wustl.edu 37 15 25326477 25326477 + RNA SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 15 25326477 25326477 A C SNP SNORD116-15 ENST00000384445 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-15 HGNC ENSG00000207174 275 0 0 167 15 8.24176 DNM1P34 0 genome.wustl.edu 37 15 75594066 75594066 + RNA SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 15 75594066 75594066 A C SNP DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P34 HGNC ENSG00000260357 23 0 0 18 3 14.2857 SRRM2 0 genome.wustl.edu 37 16 2813747 2813747 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 16 2813747 2813747 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3218 p.S1073N 0.997 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 194 0 0 99 14 12.3894 TAOK2 0 genome.wustl.edu 37 16 29996795 29996795 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 16 29996795 29996795 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1684 p.R562W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 38 0 0 36 6 14.2857 BANP 0 genome.wustl.edu 37 16 88017672 88017672 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 16 88017672 88017672 C T SNP BANP ENST00000538234 human ensembl 74_37 +1 known silent c.169 p.L57 1.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 35 0 0 21 3 12.5 MNT 0 genome.wustl.edu 37 17 2298250 2298250 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 2298250 2298250 G A SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.572 p.P191L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 25 0 0 16 3 15.7895 OR1A1 0 genome.wustl.edu 37 17 3119769 3119769 + Silent SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 3119769 3119769 T G SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known silent c.855 p.P285 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 196 0 0 124 17 12.0567 CASC3 0 genome.wustl.edu 37 17 38323766 38323766 + Nonsense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 38323766 38323766 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known nonsense c.1552 p.R518* 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 104 0 0 113 8 6.61157 LRRC37A2 0 genome.wustl.edu 37 17 44626381 44626381 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 44626381 44626381 G A SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known silent c.3876 p.T1292 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 218 0 0 121 11 8.33333 FAM104A 0 genome.wustl.edu 37 17 71223362 71223362 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 71223362 71223362 G A SNP FAM104A ENST00000405159 human ensembl 74_37 -1 known missense c.263 p.P88L 1.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 128 0 0 64 8 11.1111 ARMC7 0 genome.wustl.edu 37 17 73124926 73124926 + Silent SNP C C G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 73124926 73124926 C G SNP ARMC7 ENST00000245543 human ensembl 74_37 +1 known silent c.390 p.R130 0.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC7 HGNC ENSG00000125449 82 0 0 51 9 15 RNF213 0 genome.wustl.edu 37 17 78348265 78348265 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 78348265 78348265 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12950 p.R4317Q 0.136 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 135 0 0 122 11 8.27068 MFSD6L 0 genome.wustl.edu 37 17 8700939 8700939 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 8700939 8700939 G A SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.1500 p.Y500 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 83 0 0 46 17 26.9841 SYT4 0 genome.wustl.edu 37 18 40851687 40851687 + Silent SNP G G C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 18 40851687 40851687 G C SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known silent c.960 p.S320 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 159 0 0 78 11 12.3596 LAMA1 0 genome.wustl.edu 37 18 6958572 6958572 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 18 6958572 6958572 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7868 p.L2623P 0.986 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 70 0 0 44 6 12 ZNF675 0 genome.wustl.edu 37 19 23836911 23836911 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 23836911 23836911 T G SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.824 p.K275T 0.074 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 133 0 0 62 11 15.0685 GRAMD1A 0 genome.wustl.edu 37 19 35502408 35502408 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 35502408 35502408 C T SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.556 p.R186C 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 229 0 0 126 11 8.0292 ZFP82 0 genome.wustl.edu 37 19 36884252 36884252 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 36884252 36884252 T G SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.990 p.K330N 0.996 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 ZFP82 HGNC ENSG00000181007 191 0 0 81 10 10.989 ZNF850 0 genome.wustl.edu 37 19 37238748 37238748 + Missense_Mutation SNP T T A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 37238748 37238748 T A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.3194 p.Y1065F 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 15 0 0 17 3 15 IL4I1 0 genome.wustl.edu 37 19 50394693 50394693 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 50394693 50394693 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.671 p.A224V 0.114 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 262 0 0 123 9 6.81818 KIR2DL4 0 genome.wustl.edu 37 19 55325333 55325333 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 55325333 55325333 G A SNP KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known missense c.961 p.A321T 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 132 1 0.75188 69 17 19.7674 NLRP4 0 genome.wustl.edu 37 19 56373461 56373461 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 56373461 56373461 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2122 p.R708C 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 124 0 0 71 7 8.97436 ZNF667 0 genome.wustl.edu 37 19 56954050 56954050 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 56954050 56954050 T C SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.698 p.Q233R 0.899 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 139 0 0 67 8 10.6667 ZNF274 0 genome.wustl.edu 37 19 58723899 58723899 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 58723899 58723899 G A SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.1349 p.R450H 0.017 NULL pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 211 1 0.471698 110 12 9.83607 TAF1B 0 genome.wustl.edu 37 2 10015998 10015998 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 10015998 10015998 G A SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known silent c.558 p.T186 0.000 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 170 0 0 114 18 13.6364 CNTNAP5 0 genome.wustl.edu 37 2 125660638 125660638 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 125660638 125660638 T C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3613 p.S1205P 0.223 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 18 0 0 13 4 23.5294 STAM2 0 genome.wustl.edu 37 2 153001434 153001434 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 153001434 153001434 T C SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.485 p.N162S 0.930 superfamily_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 178 0 0 75 13 14.7727 DYNC1I2 0 genome.wustl.edu 37 2 172585300 172585300 + Missense_Mutation SNP T T A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 172585300 172585300 T A SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known missense c.1331 p.V444D 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 36 0 0 20 2 9.09091 DYNC1I2 0 genome.wustl.edu 37 2 172585301 172585301 + Silent SNP C C A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 172585301 172585301 C A SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1332 p.V444 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 37 0 0 20 2 9.09091 TTN 0 genome.wustl.edu 37 2 179583304 179583304 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 179583304 179583304 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20797 p.L6933V 0.202 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 62 0 0 49 4 7.54717 ZNF804A 0 genome.wustl.edu 37 2 185803464 185803464 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 185803464 185803464 C T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3341 p.A1114V 0.030 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 123 0 0 108 12 10 SLC4A3 0 genome.wustl.edu 37 2 220497074 220497074 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 220497074 220497074 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1132 p.V378M 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 78 0 0 44 4 8.33333 EGR4 0 genome.wustl.edu 37 2 73518869 73518869 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 73518869 73518869 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.1486 p.R496C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 55 0 0 38 4 9.52381 STAMBP 0 genome.wustl.edu 37 2 74077571 74077571 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 2 74077571 74077571 C T SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known silent c.936 p.N312 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 136 0 0 70 12 14.6341 RTEL1 0 genome.wustl.edu 37 20 62326124 62326124 + Missense_Mutation SNP C C G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 20 62326124 62326124 C G SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.3140 p.S1047C 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 38 0 0 54 5 8.47458 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862949 10862949 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 21 10862949 10862949 A T SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.245 p.K82M 0.002 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 468 0 0 346 29 7.73333 CLDN17 0 genome.wustl.edu 37 21 31538305 31538305 + Silent SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 21 31538305 31538305 T G SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known silent c.631 p.R211 0.065 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 107 0 0 80 8 9.09091 ZNF74 0 genome.wustl.edu 37 22 20755582 20755582 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 22 20755582 20755582 A T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.263 p.K88M 0.996 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF74 HGNC ENSG00000185252 24 0 0 27 2 6.89655 MTFP1 0 genome.wustl.edu 37 22 30823179 30823179 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 22 30823179 30823179 C T SNP MTFP1 ENST00000266263 human ensembl 74_37 +1 known missense c.217 p.R73C 0.998 pfam_Mitochondrial_18_kDa_protein_ pfam_Mitochondrial_18_kDa_protein_ - no_errors MTFP1 HGNC ENSG00000242114 244 0 0 155 23 12.9213 SYN3 0 genome.wustl.edu 37 22 33265093 33265093 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 22 33265093 33265093 A G SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.481 p.F161L 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 89 0 0 59 9 13.2353 FBLN2 0 genome.wustl.edu 37 3 13678019 13678019 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 3 13678019 13678019 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.3289 p.R1097C 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 45 0 0 35 5 12.5 KCNMB2 0 genome.wustl.edu 37 3 178560673 178560673 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 3 178560673 178560673 T C SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.656 p.L219P 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 46 0 0 30 6 16.6667 UVSSA 0 genome.wustl.edu 37 4 1377628 1377628 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 1377628 1377628 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1936 p.G646R 0.019 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 103 0 0 77 8 9.41176 DCHS2 0 genome.wustl.edu 37 4 155157144 155157144 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 155157144 155157144 A G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7295 p.F2432S 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 107 0 0 57 8 12.3077 NPY2R 0 genome.wustl.edu 37 4 156136124 156136124 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 156136124 156136124 C T SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.1033 p.R345W 0.989 prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 125 0 0 108 16 12.9032 TMEM144 0 genome.wustl.edu 37 4 159136418 159136418 + Missense_Mutation SNP C C G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 159136418 159136418 C G SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known missense c.185 p.P62R 1.000 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 80 0 0 34 7 17.0732 HSP90AA4P 0 genome.wustl.edu 37 4 190394346 190394346 + RNA SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 190394346 190394346 G A SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors HSP90AA4P HGNC ENSG00000205100 51 0 0 34 6 15 HSP90AA4P 0 genome.wustl.edu 37 4 190396148 190396148 + RNA SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 190396148 190396148 T C SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 85 0 0 44 5 10.2041 KLB 0 genome.wustl.edu 37 4 39439478 39439478 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 39439478 39439478 C T SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1468 p.R490W 0.999 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 135 0 0 76 12 13.6364 UNC5C 0 genome.wustl.edu 37 4 96163619 96163619 + Silent SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 4 96163619 96163619 A G SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known silent c.1069 p.L357 0.938 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 46 0 0 29 6 17.1429 PCDHA12 0 genome.wustl.edu 37 5 140257231 140257231 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 5 140257231 140257231 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2174 p.A725V 0.043 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 57 0 0 62 10 13.8889 ARHGAP26 0 genome.wustl.edu 37 5 142393779 142393779 + RNA SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 5 142393779 142393779 C T SNP ARHGAP26 ENST00000464838 human ensembl 74_37 +1 putative rna NULL NULL 0.996 - - - no_errors ARHGAP26 HGNC ENSG00000145819 43 0 0 19 4 17.3913 ADAMTS16 0 genome.wustl.edu 37 5 5239960 5239960 + Silent SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 5 5239960 5239960 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.2445 p.T815 0.032 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 156 0 0 87 14 13.8614 ADCY2 0 genome.wustl.edu 37 5 7804726 7804726 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 5 7804726 7804726 T G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.2804 p.V935G 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 99 0 0 51 6 10.5263 HS3ST5 0 genome.wustl.edu 37 6 114378466 114378466 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 114378466 114378466 A T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.996 p.N332K 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 123 0 0 82 10 10.8696 EYA4 0 genome.wustl.edu 37 6 133783490 133783490 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 133783490 133783490 T C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.455 p.L152P 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 238 0 0 137 26 15.9509 TNFAIP3 0 genome.wustl.edu 37 6 138196897 138196897 + Nonsense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 138196897 138196897 C T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known nonsense c.559 p.Q187* 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 171 0 0 97 15 13.3929 AKAP12 0 genome.wustl.edu 37 6 151672610 151672610 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 151672610 151672610 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.3084 p.G1028 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 51 0 0 55 9 14.0625 SYNE1 0 genome.wustl.edu 37 6 152737734 152737734 + Silent SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 152737734 152737734 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.5838 p.T1946 0.647 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 177 0 0 99 12 10.8108 SYNE1 0 genome.wustl.edu 37 6 152782807 152782807 + Silent SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 152782807 152782807 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.2319 p.I773 0.976 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 114 0 0 57 12 17.3913 LPA 0 genome.wustl.edu 37 6 160963737 160963737 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 160963737 160963737 T G SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5502 p.Q1834H 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 127 0 0 103 17 14.1667 PARK2 0 genome.wustl.edu 37 6 161969947 161969947 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 161969947 161969947 A G SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.1022 p.L341P 1.000 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 180 0 0 112 12 9.67742 HIST1H1D 0 genome.wustl.edu 37 6 26234540 26234540 + Missense_Mutation SNP G G C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 26234540 26234540 G C SNP HIST1H1D ENST00000244534 human ensembl 74_37 -1 known missense c.622 p.P208A 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 146 0 0 89 15 14.4231 CUL7 0 genome.wustl.edu 37 6 43019974 43019974 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 43019974 43019974 T G SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.709 p.I237L 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 84 0 0 52 10 16.129 CUL7 0 genome.wustl.edu 37 6 43020260 43020260 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 6 43020260 43020260 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.423 p.I141 0.212 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 136 0 0 101 14 12.1739 TFEC 0 genome.wustl.edu 37 7 115580853 115580853 + Missense_Mutation SNP T T C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 115580853 115580853 T C SNP TFEC ENST00000265440 human ensembl 74_37 -1 known missense c.796 p.T266A 0.010 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 244 0 0 160 25 13.5135 SPAM1 0 genome.wustl.edu 37 7 123599597 123599597 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 123599597 123599597 C T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known silent c.1104 p.N368 0.329 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 81 0 0 52 4 7.14286 DGKI 0 genome.wustl.edu 37 7 137237206 137237206 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 137237206 137237206 A C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2056 p.L686V 0.998 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 195 0 0 131 25 16.0256 WEE2 0 genome.wustl.edu 37 7 141424832 141424832 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 141424832 141424832 C T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.1228 p.R410W 0.659 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 136 0 0 81 6 6.89655 DNAH11 0 genome.wustl.edu 37 7 21639582 21639582 + Missense_Mutation SNP A A T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 21639582 21639582 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2845 p.I949F 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 54 0 0 39 6 13.3333 DNAH11 0 genome.wustl.edu 37 7 21658722 21658722 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 21658722 21658722 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.4274 p.K1425T 0.006 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 54 0 0 32 13 28.8889 GLI3 0 genome.wustl.edu 37 7 42005807 42005807 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 42005807 42005807 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2864 p.T955M 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 35 0 0 21 4 16 AEBP1 0 genome.wustl.edu 37 7 44147232 44147232 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 44147232 44147232 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.672 p.P224 0.011 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 91 0 0 71 7 8.97436 NPC1L1 0 genome.wustl.edu 37 7 44579660 44579660 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 44579660 44579660 G A SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.336 p.R112 1.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 93 0 0 80 11 12.0879 ZNF679 0 genome.wustl.edu 37 7 63726871 63726871 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 63726871 63726871 A G SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.860 p.K287R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 63 0 0 40 6 13.0435 PCLO 0 genome.wustl.edu 37 7 82544222 82544222 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 82544222 82544222 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13080 p.E4360D 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 114 0 0 65 10 13.3333 FZD1 0 genome.wustl.edu 37 7 90896057 90896057 + Missense_Mutation SNP T T A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 7 90896057 90896057 T A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1862 p.I621N 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 120 0 0 115 14 10.8527 RIMS2 0 genome.wustl.edu 37 8 104930678 104930678 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 8 104930678 104930678 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.2046 p.P682 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 52 0 0 30 4 11.7647 CSMD1 0 genome.wustl.edu 37 8 2820095 2820095 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 8 2820095 2820095 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9524 p.K3175T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 53 0 0 50 4 7.40741 CYP7A1 0 genome.wustl.edu 37 8 59412593 59412593 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 8 59412593 59412593 A G SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known missense c.65 p.L22P 0.124 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 157 0 0 105 12 10.2564 PAPPA 0 genome.wustl.edu 37 9 118950303 118950303 + Missense_Mutation SNP A A G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 9 118950303 118950303 A G SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1286 p.N429S 1.000 pfam_Notch_dom,smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 74 0 0 49 23 31.9444 PTPRD 0 genome.wustl.edu 37 9 8484153 8484153 + Missense_Mutation SNP G G T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 9 8484153 8484153 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3379 p.Q1127K 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 163 0 0 78 8 9.30233 H2BFWT 0 genome.wustl.edu 37 X 103267793 103267793 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 103267793 103267793 G A SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.440 p.P147L 0.992 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 70 0 0 63 8 11.2676 WDR44 0 genome.wustl.edu 37 X 117577561 117577561 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 117577561 117577561 A C SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.2423 p.K808T 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 252 0 0 123 22 15.1724 KIAA1210 0 genome.wustl.edu 37 X 118222914 118222914 + Missense_Mutation SNP T T G TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 118222914 118222914 T G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.2279 p.K760T 0.004 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 71 0 0 52 7 11.8644 DCAF12L2 0 genome.wustl.edu 37 X 125298618 125298618 + Silent SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 125298618 125298618 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.1290 p.A430 0.106 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 292 0 0 218 42 16.1538 FANCB 0 genome.wustl.edu 37 X 14863287 14863287 + Missense_Mutation SNP A A C TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 14863287 14863287 A C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.1618 p.L540V 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 173 0 0 85 11 11.4583 GAB3 0 genome.wustl.edu 37 X 153924213 153924213 + Silent SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 153924213 153924213 G A SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.1509 p.D503 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 54 0 0 24 3 11.1111 P2RY8 0 genome.wustl.edu 37 X 1584751 1584751 + Missense_Mutation SNP C C T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 1584751 1584751 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.701 p.R234H 0.886 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 49 0 0 42 6 12.5 FAM47C 0 genome.wustl.edu 37 X 37027957 37027957 + Missense_Mutation SNP G G A TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 37027957 37027957 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1474 p.D492N 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 199 1 0.5 151 26 14.6893 CYLC1 0 genome.wustl.edu 37 X 83128538 83128538 + Missense_Mutation SNP G G T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 X 83128538 83128538 G T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.822 p.K274N 0.994 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 54 0 0 26 5 16.129 DDX54 0 genome.wustl.edu 37 12 113601889 113601891 + In_Frame_Del DEL CCT CCT - TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 113601889 113601891 CCT - DEL DDX54 ENST00000314045 human ensembl 74_37 -1 known in_frame_del c.1921_1919 p.E640in_frame_del 0.000:0.000:0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 15 0 0 10 2 16.6667 HNF1A 0 genome.wustl.edu 37 12 121438927 121438928 + Frame_Shift_Ins INS - - T TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 12 121438927 121438928 - T INS HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_ins c.1828_1829 p.L611fs 1.000:1.000 pfam_HNF1a_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 60 0 0 49 8 14.0351 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 22 0 0 27 5 15.625 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 26 0 0 23 4 14.8148 PRICKLE2-AS3 0 genome.wustl.edu 37 3 64184686 64184686 + RNA DEL T T - TCGA-D7-8579-01A-11D-2340-08 TCGA-D7-8579-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8ec246de-8531-4ab1-8733-ae43cc85a8e6 34c5e3bc-b572-4b6e-9780-722172d7adc5 3 64184686 64184686 T - DEL PRICKLE2-AS3 ENST00000473434 human ensembl 74_37 +1 known rna NULL NULL 0.222 - - - no_errors PRICKLE2-AS3 HGNC ENSG00000226017 18 0 0 22 4 15.3846