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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val GIGYF1 0 genome.wustl.edu 37 7 100283916 100283916 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 100283916 100283916 G C SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.835 p.R279G 0.206 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 - - 25 0 0.00 34 19 35.85 CLEC4M 0 genome.wustl.edu 37 19 7828315 7828315 + Missense_Mutation SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 7828315 7828315 C A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.83 p.P28Q 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 tier1 - - 17 0 0.00 27 7 20.59 CAC1F 0 genome.wustl.edu 37 X 49083120 49083120 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e X 49083120 49083120 G A SNP CAC1F ENST00000376265 human ensembl 74_37 -1 known missense c.1354 p.R452C 0.375 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1F HGNC ENSG00000102001 tier1 - - 39 0 0.00 35 21 37.50 ZDHHC23 0 genome.wustl.edu 37 3 113680306 113680306 + R SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 113680306 113680306 G C SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 49 0 0.00 61 9 12.86 C22orf42 0 genome.wustl.edu 37 22 32550298 32550298 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 22 32550298 32550298 G A SNP C22orf42 ENST00000382097 human ensembl 74_37 -1 known silent c.240 p.D80 0.000 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 tier1 - - 36 0 0.00 14 6 30.00 CHRM4 0 genome.wustl.edu 37 11 46407064 46407064 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 46407064 46407064 C G SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.1044 p.Q348H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 tier1 - - 84 0 0.00 35 29 44.62 OR4N4 0 genome.wustl.edu 37 15 22382584 22382584 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 22382584 22382584 A T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.112 p.I38F 0.992 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 254 0 0.00 297 27 8.33 TXNDC9 0 genome.wustl.edu 37 2 99944045 99944045 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 99944045 99944045 C T SNP TXNDC9 ENST00000264255 human ensembl 74_37 -1 known silent c.261 p.K87 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC9 HGNC ENSG00000115514 tier1 - - 65 0 0.00 57 11 16.18 PHEX 0 genome.wustl.edu 37 X 22231040 22231040 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e X 22231040 22231040 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known silent c.1665 p.L555 0.988 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 18 0 0.00 7 25 78.12 MAN2A1 0 genome.wustl.edu 37 5 109110495 109110495 + Silent SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 109110495 109110495 G T SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known silent c.1203 p.R401 0.008 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 tier1 - - 51 0 0.00 27 5 15.62 ADARB2-AS1 0 genome.wustl.edu 37 10 1577844 1577844 + R SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 10 1577844 1577844 G C SNP ADARB2-AS1 ENST00000381301 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 tier1 - - 53 0 0.00 29 16 34.78 C3orf79 0 genome.wustl.edu 37 3 153203846 153203846 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 153203846 153203846 C T SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known missense c.175 p.P59S 0.001 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 tier1 - - 39 0 0.00 28 11 28.21 MTTP 0 genome.wustl.edu 37 4 100521752 100521752 + Silent SNP T T G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 100521752 100521752 T G SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.1098 p.A366 0.999 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 64 0 0.00 59 19 24.36 ZNF726 0 genome.wustl.edu 37 19 24115259 24115259 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 24115259 24115259 G A SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.341 p.R114K 0.003 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 ZNF726 HGNC ENSG00000213967 tier1 - - 30 0 0.00 39 10 20.41 USP24 0 genome.wustl.edu 37 1 55534764 55534764 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 55534764 55534764 A G SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.7337 p.M2446T 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 27 0 0.00 25 4 13.79 C9orf84 0 genome.wustl.edu 37 9 114521079 114521079 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 9 114521079 114521079 G C SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.300 p.H100Q 0.010 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 tier1 - - 40 0 0.00 39 8 17.02 WDR46 0 genome.wustl.edu 37 6 33248252 33248252 + Missense_Mutation SNP T T G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 33248252 33248252 T G SNP WDR46 ENST00000374617 human ensembl 74_37 -1 known missense c.1477 p.S493R 1.000 pfam_BING4_C_dom pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 tier1 - - 92 0 0.00 71 17 19.10 HOXB1 0 genome.wustl.edu 37 17 46607840 46607840 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 46607840 46607840 G C SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.427 p.P143A 0.043 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 tier1 - - 76 0 0.00 70 43 37.39 ANXA10 0 genome.wustl.edu 37 4 169083688 169083688 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 169083688 169083688 G T SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.205 p.G69W 0.104 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 tier1 - - 60 0 0.00 54 12 18.18 PTPRB 0 genome.wustl.edu 37 12 70988329 70988329 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 12 70988329 70988329 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.1434 p.L478 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 59 0 0.00 63 13 17.11 ADARB2 0 genome.wustl.edu 37 10 1246213 1246213 + Silent SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 10 1246213 1246213 T A SNP ADARB2 ENST00000381310 human ensembl 74_37 -1 known silent c.84 p.G28 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 65 0 0.00 27 13 32.50 FRMD4B 0 genome.wustl.edu 37 3 69351552 69351552 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 69351552 69351552 C T SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.358 p.V120I 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 tier1 - - 95 0 0.00 32 35 52.24 GPRC5C 0 genome.wustl.edu 37 17 72436058 72436058 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 72436058 72436058 C T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.278 p.A93V 0.941 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 28 0 0.00 44 6 12.00 EEF1DP3 0 genome.wustl.edu 37 13 32520168 32520168 + R SNP T T G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 13 32520168 32520168 T G SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors EEF1DP3 HGNC ENSG00000229715 tier1 - - 45 0 0.00 28 15 34.88 SP3 0 genome.wustl.edu 37 2 174819714 174819715 + Frame_Shift_Ins INS - - T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 174819714 174819715 - T INS SP3 ENST00000310015 human ensembl 74_37 -1 known frame_shift_ins c.1526_1525 p.T509fs 1.000:1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 tier1 58 0 0.00 38 14 26.92 SDHA 0 genome.wustl.edu 37 5 251510 251510 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 251510 251510 G C SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1721 p.C574S 0.992 pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 65 0 0.00 88 57 39.31 OTP 0 genome.wustl.edu 37 5 76932914 76932914 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 76932914 76932914 C G SNP OTP ENST00000306422 human ensembl 74_37 -1 known missense c.179 p.G60A 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 tier1 - - 88 0 0.00 61 19 23.75 NR2E1 0 genome.wustl.edu 37 6 108499369 108499369 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 108499369 108499369 C G SNP NR2E1 ENST00000368986 human ensembl 74_37 +1 known missense c.566 p.A189G 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 tier1 - - 79 0 0.00 64 15 18.75 KIAA2013 0 genome.wustl.edu 37 1 11983413 11983413 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 11983413 11983413 C G SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known missense c.1167 p.Q389H 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 98 0 0.00 87 13 13.00 OR11H1 0 genome.wustl.edu 37 22 16449006 16449006 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 22 16449006 16449006 A T SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.799 p.Y267N 0.915 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 tier1 - - 48 0 0.00 40 13 24.53 AKAP12 0 genome.wustl.edu 37 6 151672827 151672827 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 151672827 151672827 G T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.3301 p.A1101S 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 22 0 0.00 19 11 36.67 ARC 0 genome.wustl.edu 37 8 143693468 143693468 + Splice_Site SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 143693468 143693468 C A SNP ARC ENST00000356613 human ensembl 74_37 -1 known splice_site c.1191+1 e1+1 1.000 - - - no_errors ARC HGNC ENSG00000198576 tier1 - - 111 0 0.00 115 28 19.58 NPTXR 0 genome.wustl.edu 37 22 39218630 39218630 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 22 39218630 39218630 C T SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.1487 p.G496E 0.998 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 tier1 - - 26 0 0.00 43 11 20.37 NMT2 0 genome.wustl.edu 37 1 183273820 183273820 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 183273820 183273820 A C SNP NMT2 ENST00000294868 human ensembl 74_37 -1 known missense c.55 p.F19V 0.002 NULL pfam_Cyt_trans-like - no_errors NMT2 HGNC ENSG00000157064 tier1 - - 36 0 0.00 23 19 45.24 CHST1 0 genome.wustl.edu 37 11 45670491 45670491 + R SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 45670491 45670491 G T SNP CHST1 ENST00000533673 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 27 0 0.00 22 4 15.38 TBX21 0 genome.wustl.edu 37 17 45821866 45821866 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 45821866 45821866 G T SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known missense c.946 p.D316Y 1.000 pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 tier1 - - 46 0 0.00 33 10 23.26 CRISP3 0 genome.wustl.edu 37 6 49703228 49703228 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 49703228 49703228 T A SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known missense c.335 p.D112V 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 tier1 - - 87 0 0.00 89 9 9.00 NPY4R 0 genome.wustl.edu 37 10 47087186 47087186 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 10 47087186 47087186 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.403 p.V135M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 tier1 rs144429123 - 96 0 0.00 56 12 17.65 TAGLN2 0 genome.wustl.edu 37 1 159889571 159889572 + In_Frame_Ins INS - - TAA TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 159889571 159889572 - TAA INS TAGLN2 ENST00000368096 human ensembl 74_37 -1 known in_frame_ins c.298_297 p.99in_frame_insL 1.000:1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN2 HGNC ENSG00000158710 tier1 26 0 0.00 90 19 17.43 STARD9 0 genome.wustl.edu 37 15 42983936 42983936 + Nonsense_Mutation SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 42983936 42983936 C A SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known nonsense c.10160 p.S3387* 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 35 0 0.00 54 6 10.00 LRRC37A3 0 genome.wustl.edu 37 17 62892261 62892261 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 62892261 62892261 T A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.1115 p.E372V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 198 1 0.50 240 28 10.45 NIPAL2 0 genome.wustl.edu 37 8 99205061 99205061 + R SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 99205061 99205061 C T SNP NIPAL2 ENST00000520545 human ensembl 74_37 -1 known rna NULL NULL 0.081 - - - no_errors NIPAL2 HGNC ENSG00000104361 tier1 - - 39 0 0.00 34 10 22.73 SLIT3 0 genome.wustl.edu 37 5 168123305 168123305 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 168123305 168123305 T A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3074 p.N1025I 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 74 0 0.00 76 14 15.56 ENSG00000259668 0 genome.wustl.edu 37 15 51751092 51751097 + R DEL AGCAGC AGCAGC - TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 AGCAGC AGCAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 51751092 51751097 AGCAGC - DEL ENSG00000259668 ENST00000559173 human ensembl 74_37 +1 known rna NULL NULL 0.994:0.992:0.991:0.990:0.990:0.990 - - - no_errors RP11-707P17.2 Clone_based_vega_gene ENSG00000259668 tier1 SLIT3 0 genome.wustl.edu 37 5 168123307 168123307 + Silent SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 168123307 168123307 A T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.3072 p.P1024 0.002 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 74 0 0.00 77 14 15.38 LOC648987 0 genome.wustl.edu 37 5 43017498 43017498 + R SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 43017498 43017498 G A SNP LOC648987 ENST00000314957 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors CTD-2201E18.3 Clone_based_vega_gene ENSG00000177738 tier1 - - 45 0 0.00 27 11 28.95 PADI4 0 genome.wustl.edu 37 1 17668836 17668836 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 17668836 17668836 C T SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known missense c.874 p.R292C 1.000 pfam_PAD_C,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 tier1 - - 68 0 0.00 67 26 27.96 CAMTA1 0 genome.wustl.edu 37 1 7723664 7723664 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 7723664 7723664 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1057 p.D353N 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 55 0 0.00 48 18 27.27 FRAS1 0 genome.wustl.edu 37 4 79350248 79350248 + Splice_Site SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 79350248 79350248 G C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known splice_site c.4712-1 e36-1 1.000 - - - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 43 0 0.00 37 15 28.85 SYNE1 0 genome.wustl.edu 37 6 152522994 152522994 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 152522994 152522994 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.23110 p.H7704N 1.000 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 - - 46 0 0.00 66 6 8.22 MIR1197 0 genome.wustl.edu 37 14 101491981 101491981 + R SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 14 101491981 101491981 C T SNP MIR1197 ENST00000408818 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1197 HGNC ENSG00000221745 tier1 - - 140 0 0.00 93 59 38.82 ENSG00000254990 0 genome.wustl.edu 37 11 111639566 111639567 + R INS - - GTGTGTGT TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 111639566 111639567 - GTGTGTGT INS ENSG00000254990 ENST00000529841 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.014 - - - no_errors RP11-108O10.2 Clone_based_vega_gene ENSG00000254990 tier1 DUSP27 0 genome.wustl.edu 37 1 167096341 167096341 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 167096341 167096341 C G SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1973 p.P658R 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 20 0 0.00 107 19 14.96 ADAM17 0 genome.wustl.edu 37 2 9630591 9630591 + Silent SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 9630591 9630591 A G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.2190 p.F730 0.924 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 39 0 0.00 33 5 13.16 DUSP27 0 genome.wustl.edu 37 1 167096495 167096495 + Missense_Mutation SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 167096495 167096495 C A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2127 p.N709K 0.995 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 19 0 0.00 207 37 15.16 CCDC175 0 genome.wustl.edu 37 14 59977465 59977465 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 14 59977465 59977465 C T SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known missense c.2204 p.R735H 0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 67 0 0.00 14 28 66.67 PPOX 0 genome.wustl.edu 37 1 161140426 161140426 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 161140426 161140426 C G SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.1115 p.S372C 0.999 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 tier1 - - 84 0 0.00 421 102 19.47 UBASH3A 0 genome.wustl.edu 37 21 43833596 43833596 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 21 43833596 43833596 A G SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.631 p.R211G 0.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 tier1 - - 58 0 0.00 45 16 26.23 CCR3 0 genome.wustl.edu 37 3 46307606 46307606 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 46307606 46307606 C G SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.1020 p.H340Q 0.001 prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 - - 35 0 0.00 30 10 25.00 KRTAP12-2 0 genome.wustl.edu 37 21 46086450 46086450 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 21 46086450 46086450 C T SNP KRTAP12-2 ENST00000360770 human ensembl 74_37 -1 known silent c.354 p.P118 0.042 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 tier1 - - 51 0 0.00 32 12 27.27 ATRX 0 genome.wustl.edu 37 X 76939918 76939919 + Frame_Shift_Ins INS - - C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e X 76939918 76939919 - C INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.830_829 p.V277fs 1.000:1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 44 0 0.00 18 18 50.00 TUBG1 0 genome.wustl.edu 37 17 40764110 40764110 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 40764110 40764110 G C SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known missense c.348 p.E116D 0.993 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Gamma_tubulin,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 tier1 - - 59 0 0.00 49 8 14.04 C3orf79 0 genome.wustl.edu 37 3 153203844 153203844 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 153203844 153203844 A G SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known missense c.173 p.H58R 0.001 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 tier1 - - 34 0 0.00 26 11 27.50 CHRNB1 0 genome.wustl.edu 37 17 7360003 7360003 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 7360003 7360003 C T SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known silent c.1467 p.D489 0.607 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 tier1 - - 106 0 0.00 121 24 16.55 SYNE1 0 genome.wustl.edu 37 6 152485349 152485349 + Silent SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 152485349 152485349 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.23739 p.V7913 1.000 pfam_Spectrin_repeat,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 - - 66 0 0.00 71 21 22.83 KIAA2013 0 genome.wustl.edu 37 1 11983047 11983047 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 11983047 11983047 C T SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known silent c.1533 p.V511 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 50 0 0.00 52 10 16.13 ENSG00000183154 0 genome.wustl.edu 37 8 37593892 37593892 + Missense_Mutation SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 37593892 37593892 T C SNP ENSG00000183154 ENST00000330539 human ensembl 74_37 -1 putative missense c.124 p.S42G 0.010 NULL NULL - no_errors RP11-863K10.7 Clone_based_vega_gene ENSG00000183154 tier1 - - 53 0 0.00 44 12 21.43 FBXW10 0 genome.wustl.edu 37 17 18653126 18653126 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 18653126 18653126 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.762 p.P254 0.010 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 68 0 0.00 92 20 17.86 ST18 0 genome.wustl.edu 37 8 53084940 53084940 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 53084940 53084940 T A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.481 p.S161C 0.730 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 61 0 0.00 71 21 22.83 TGIF2LX 0 genome.wustl.edu 37 X 89177282 89177282 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e X 89177282 89177282 C T SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.198 p.R66 0.005 pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 17 0 0.00 3 8 72.73 LUC7L 0 genome.wustl.edu 37 16 258115 258115 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 16 258115 258115 C T SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.328 p.E110K 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 tier1 - - 54 0 0.00 31 15 32.61 DUSP27 0 genome.wustl.edu 37 1 167096970 167096970 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 167096970 167096970 C G SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2602 p.L868V 0.994 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 36 0 0.00 164 21 11.29 RELN 0 genome.wustl.edu 37 7 103276804 103276804 + Nonsense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 103276804 103276804 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.2181 p.Y727* 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 33 0 0.00 32 4 11.11 EDC4 0 genome.wustl.edu 37 16 67915420 67915420 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 16 67915420 67915420 G T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.2810 p.R937L 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 46 0 0.00 51 13 20.31 KIF5A 0 genome.wustl.edu 37 12 57969035 57969035 + Missense_Mutation SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 12 57969035 57969035 T C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1885 p.C629R 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 - - 35 0 0.00 13 10 43.48 UBB 0 genome.wustl.edu 37 17 16285594 16285594 + Nonsense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 16285594 16285594 C T SNP UBB ENST00000302182 human ensembl 74_37 +1 novel nonsense c.373 p.Q125* 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBB HGNC ENSG00000170315 tier1 - - 63 0 0.00 101 37 26.62 TECTA 0 genome.wustl.edu 37 11 121028837 121028837 + Missense_Mutation SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 121028837 121028837 C A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4593 p.F1531L 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 35 0 0.00 23 11 32.35 GPRC5C 0 genome.wustl.edu 37 17 72435889 72435889 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 72435889 72435889 C G SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.109 p.Q37E 0.976 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 66 0 0.00 95 17 15.18 NRP2 0 genome.wustl.edu 37 2 206588626 206588626 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 206588626 206588626 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.782 p.S261F 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 95 0 0.00 60 13 17.81 LPPR2 0 genome.wustl.edu 37 19 11475026 11475026 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 11475026 11475026 C T SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known missense c.944 p.S315L 0.999 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 tier1 - - 29 0 0.00 41 6 12.77 NRP2 0 genome.wustl.edu 37 2 206588625 206588625 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 206588625 206588625 T A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.781 p.S261T 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 95 0 0.00 58 13 18.31 KPTN 0 genome.wustl.edu 37 19 47978546 47978546 + R SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 47978546 47978546 G C SNP KPTN ENST00000600551 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors KPTN HGNC ENSG00000118162 tier1 - - 34 0 0.00 61 11 15.28 TMEM63C 0 genome.wustl.edu 37 14 77697934 77697934 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 14 77697934 77697934 C T SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.354 p.D118 0.760 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 tier1 rs201147786 GMAF=0 46 0 0.00 38 9 18.75 MAN1C1 0 genome.wustl.edu 37 1 26098237 26098237 + Missense_Mutation SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 26098237 26098237 A G SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.1231 p.K411E 0.994 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 tier1 - - 39 0 0.00 39 14 26.42 ENSG00000233002 0 genome.wustl.edu 37 17 15639142 15639142 + R SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 15639142 15639142 G A SNP ENSG00000233002 ENST00000434017 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233002 tier1 rs199625653 - 9 0 0.00 6 7 53.85 PMPCB 0 genome.wustl.edu 37 7 102949431 102949431 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 102949431 102949431 G A SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known silent c.882 p.A294 0.984 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 tier1 rs76757936 GMAF=0.0005 46 0 0.00 48 23 32.39 ADAM17 0 genome.wustl.edu 37 2 9675993 9675993 + Silent SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 9675993 9675993 G T SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.420 p.I140 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 75 0 0.00 18 11 37.93 PRTG 0 genome.wustl.edu 37 15 55919246 55919246 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 55919246 55919246 G T SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.2887 p.L963I 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 70 0 0.00 36 32 47.06 ZNF704 0 genome.wustl.edu 37 8 81577130 81577130 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 81577130 81577130 T A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known missense c.847 p.T283S 0.999 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 tier1 - - 100 0 0.00 114 18 13.64 GRK5 0 genome.wustl.edu 37 10 121086078 121086078 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 10 121086078 121086078 A C SNP GRK5 ENST00000392870 human ensembl 74_37 +1 known missense c.103 p.K35Q 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 tier1 - - 45 0 0.00 43 4 8.51 SCN4A 0 genome.wustl.edu 37 17 62025311 62025311 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 62025311 62025311 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3257 p.A1086V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 78 0 0.00 89 14 13.59 DOK2 0 genome.wustl.edu 37 8 21767194 21767194 + Silent SNP A A G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 21767194 21767194 A G SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known silent c.867 p.A289 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 tier1 - - 104 1 0.95 63 20 24.10 NBPF10 0 genome.wustl.edu 37 1 145368496 145368496 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 145368496 145368496 G C SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10474 p.D3492H 0.012 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 238 0 0.00 759 82 9.74 XYLB 0 genome.wustl.edu 37 3 38411731 38411732 + R INS - - CACACACACA TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 3 38411731 38411732 - CACACACACA INS XYLB ENST00000487569 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 tier1 NKAIN4 0 genome.wustl.edu 37 20 61872719 61872719 + R SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 20 61872719 61872719 G T SNP NKAIN4 ENST00000466885 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NKAIN4 HGNC ENSG00000101198 tier1 - - 66 0 0.00 65 17 20.73 MYH14 0 genome.wustl.edu 37 19 50792733 50792733 + Missense_Mutation SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 50792733 50792733 C A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4793 p.A1598E 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 50 0 0.00 43 6 12.24 SCAND3 0 genome.wustl.edu 37 6 28541205 28541205 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 28541205 28541205 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2461 p.R821W 0.984 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 rs199908707 GMAF=0.0005 53 0 0.00 62 12 16.22 MTMR4 0 genome.wustl.edu 37 17 56573691 56573691 + Silent SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 56573691 56573691 T C SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known silent c.1812 p.R604 0.998 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 30 0 0.00 41 4 8.89 NBPF10 0 genome.wustl.edu 37 1 145368529 145368529 + Missense_Mutation SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 145368529 145368529 G C SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10507 p.E3503Q 0.004 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 260 0 0.00 935 104 10.01 UNC13A 0 genome.wustl.edu 37 19 17768952 17768952 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 17768952 17768952 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.950 p.R317H 0.981 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 87 0 0.00 95 30 24.00 ERI1 0 genome.wustl.edu 37 8 8873857 8873857 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 8873857 8873857 G T SNP ERI1 ENST00000250263 human ensembl 74_37 +1 known missense c.524 p.R175I 0.998 pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/D_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 tier1 - - 39 0 0.00 40 4 9.09 STARD9 0 genome.wustl.edu 37 15 42985565 42985565 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 42985565 42985565 G T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.11789 p.G3930V 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 33 0 0.00 38 4 9.52 CDKL5 0 genome.wustl.edu 37 X 18668605 18668605 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e X 18668605 18668605 T A SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.2873 p.I958N 0.000 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 CDKL5 HGNC ENSG00000008086 tier1 - - 42 0 0.00 38 14 26.42 MIR129-1 0 genome.wustl.edu 37 7 127847943 127847943 + R SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 127847943 127847943 G C SNP MIR129-1 ENST00000384972 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR129-1 HGNC ENSG00000207705 tier1 - - 41 0 0.00 21 5 19.23 DPP9 0 genome.wustl.edu 37 19 4694694 4694694 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 4694694 4694694 C G SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.1495 p.E499Q 0.123 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 tier1 - - 53 0 0.00 80 9 10.11 PNPLA6 0 genome.wustl.edu 37 19 7619446 7619446 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 7619446 7619446 A C SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.2501 p.Q834P 0.997 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 50 0 0.00 76 15 16.48 FSTL5 0 genome.wustl.edu 37 4 162307283 162307283 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 162307283 162307283 G A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.2160 p.Y720 0.962 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 38 0 0.00 18 15 45.45 ADAMTS3 0 genome.wustl.edu 37 4 73280608 73280608 + Silent SNP T T G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 73280608 73280608 T G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.585 p.G195 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 91 0 0.00 80 15 15.79 PREX2 0 genome.wustl.edu 37 8 69032459 69032459 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 8 69032459 69032459 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3533 p.G1178E 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 33 0 0.00 34 11 24.44 TUBA3C 0 genome.wustl.edu 37 13 19751171 19751171 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 13 19751171 19751171 A T SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.952 p.L318M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 135 0 0.00 129 30 18.87 DUSP27 0 genome.wustl.edu 37 1 167096832 167096832 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 167096832 167096832 C G SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2464 p.P822A 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 26 0 0.00 176 27 13.30 PCDHB6 0 genome.wustl.edu 37 5 140530374 140530374 + Missense_Mutation SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 140530374 140530374 T C SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.536 p.V179A 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 35 0 0.00 21 5 19.23 TDRD6 0 genome.wustl.edu 37 6 46656482 46656482 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 46656482 46656482 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.617 p.R206H 0.960 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 39 0 0.00 38 13 25.49 INF2 0 genome.wustl.edu 37 14 105177455 105177455 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 14 105177455 105177455 A C SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2350 p.T784P 0.997 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 27 0 0.00 20 17 45.95 IFI6 0 genome.wustl.edu 37 1 27995782 27995782 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 27995782 27995782 A C SNP IFI6 ENST00000339145 human ensembl 74_37 -1 known missense c.44 p.L15R 0.003 NULL pfam_IFI6/IFI27 - no_errors IFI6 HGNC ENSG00000126709 tier1 - - 110 0 0.00 96 19 16.38 TMPRSS5 0 genome.wustl.edu 37 11 113560630 113560630 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 113560630 113560630 C T SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known missense c.1216 p.G406R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 tier1 - - 36 0 0.00 20 13 39.39 EXOC6B 0 genome.wustl.edu 37 2 72411239 72411239 + Silent SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 72411239 72411239 C G SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known silent c.2274 p.R758 0.622 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 54 0 0.00 33 14 29.79 PCYOX1 0 genome.wustl.edu 37 2 70504006 70504006 + Nonsense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 70504006 70504006 G T SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known nonsense c.1000 p.E334* 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 tier1 rs200244897 - 54 0 0.00 33 11 25.00 PCLO 0 genome.wustl.edu 37 7 82545805 82545805 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 82545805 82545805 A T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11497 p.Y3833N 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 tier1 - - 62 0 0.00 82 16 16.33 NBPF10 0 genome.wustl.edu 37 1 145368500 145368500 + Missense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 145368500 145368500 G T SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10478 p.R3493I 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 241 0 0.00 787 86 9.85 GUSB 0 genome.wustl.edu 37 7 65439619 65439619 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 7 65439619 65439619 C T SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.1138 p.A380T 0.941 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 - - 39 0 0.00 58 13 18.06 PRMT8 0 genome.wustl.edu 37 12 3678670 3678670 + Silent SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 12 3678670 3678670 C A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known silent c.652 p.R218 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tR_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 68 0 0.00 47 15 24.19 LOC440905 0 genome.wustl.edu 37 2 130748075 130748075 + R SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 2 130748075 130748075 G T SNP LOC440905 ENST00000440931 human ensembl 74_37 -1 known rna NULL NULL 0.512 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 - - 44 0 0.00 20 11 35.48 SETD3 0 genome.wustl.edu 37 14 99865106 99865106 + Silent SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 14 99865106 99865106 G T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known silent c.1695 p.S565 0.000 NULL pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 tier1 - - 59 0 0.00 35 4 10.00 SYNRG 0 genome.wustl.edu 37 17 35902452 35902452 + Missense_Mutation SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 35902452 35902452 T C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.2824 p.T942A 0.945 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 69 0 0.00 76 15 16.48 TDO2 0 genome.wustl.edu 37 4 156835543 156835543 + Silent SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 4 156835543 156835543 G C SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known silent c.795 p.L265 0.428 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 tier1 - - 46 0 0.00 24 18 42.86 LOC100288842 0 genome.wustl.edu 37 9 123560880 123560880 + R SNP C C A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 9 123560880 123560880 C A SNP LOC100288842 ENST00000437707 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-27I1.4 Clone_based_vega_gene ENSG00000214654 tier1 - - 48 0 0.00 37 9 19.57 NLRP4 0 genome.wustl.edu 37 19 56369480 56369480 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 56369480 56369480 A C SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.721 p.N241H 0.000 superfamily_P-loop_NTPase,pfscan_CHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 66 0 0.00 106 20 15.87 BLVRB 0 genome.wustl.edu 37 19 40953796 40953796 + Nonstop_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 40953796 40953796 C G SNP BLVRB ENST00000263368 human ensembl 74_37 -1 known nonstop c.621 p.*207Y 0.967 NULL pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase - no_errors BLVRB HGNC ENSG00000090013 tier1 - - 46 0 0.00 64 8 11.11 SYNM 0 genome.wustl.edu 37 15 99674046 99674047 + R INS - - TTCTGTTATAGCCTAAG TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 99674046 99674047 - TTCTGTTATAGCCTAAG INS SYNM ENST00000558420 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SYNM HGNC ENSG00000182253 tier1 MEGF6 0 genome.wustl.edu 37 1 3412562 3412562 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 3412562 3412562 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.3763 p.G1255S 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 175 0 0.00 142 51 26.42 PKLR 0 genome.wustl.edu 37 1 155265486 155265486 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 155265486 155265486 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.345 p.A115 0.915 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 47 0 0.00 37 11 22.92 F10 0 genome.wustl.edu 37 13 113803498 113803498 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 13 113803498 113803498 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known silent c.1134 p.K378 1.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 tier1 - - 45 0 0.00 29 21 42.00 PCDHA1 0 genome.wustl.edu 37 5 140166038 140166038 + Nonsense_Mutation SNP G G T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 140166038 140166038 G T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known nonsense c.163 p.E55* 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 66 0 0.00 72 23 24.21 SHANK1 0 genome.wustl.edu 37 19 51219979 51219979 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 51219979 51219979 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.198 p.D66 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 43 0 0.00 42 7 14.29 KIAA2013 0 genome.wustl.edu 37 1 11982747 11982747 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 11982747 11982747 C G SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known missense c.1833 p.K611N 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 59 0 0.00 47 9 16.07 GAPT 0 genome.wustl.edu 37 5 57790369 57790369 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 57790369 57790369 G A SNP GAPT ENST00000318469 human ensembl 74_37 +1 known silent c.6 p.S2 0.006 pfam_Protein_GAPT pfam_Protein_GAPT - no_errors GAPT HGNC ENSG00000175857 tier1 rs201851075 GMAF=0.0005 79 0 0.00 56 31 35.63 NUTM2D 0 genome.wustl.edu 37 10 89127109 89127109 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 10 89127109 89127109 C G SNP NUTM2D ENST00000412718 human ensembl 74_37 +1 novel missense c.1654 p.P552A 0.147 NULL NULL - no_errors NUTM2D HGNC ENSG00000214562 tier1 - - 148 0 0.00 94 30 24.19 TRPC7 0 genome.wustl.edu 37 5 135692859 135692859 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 135692859 135692859 A T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.217 p.C73S 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 39 0 0.00 54 6 10.00 MGA 0 genome.wustl.edu 37 15 41988903 41988903 + Silent SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 15 41988903 41988903 A T SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.1695 p.I565 0.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 15 0 0.00 23 5 17.86 ZZEF1 0 genome.wustl.edu 37 17 4027291 4027291 + Missense_Mutation SNP A A C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 4027291 4027291 A C SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.409 p.L137V 0.944 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 82 0 0.00 110 17 13.39 MED17 0 genome.wustl.edu 37 11 93529663 93529663 + Missense_Mutation SNP A A T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 93529663 93529663 A T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.1100 p.H367L 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 tier1 - - 64 0 0.00 54 16 22.86 MYH4 0 genome.wustl.edu 37 17 10346789 10346789 + Missense_Mutation SNP T T C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 10346789 10346789 T C SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.5723 p.E1908G 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 99 0 0.00 112 33 22.76 IBTK 0 genome.wustl.edu 37 6 82911138 82911138 + Splice_Site SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 82911138 82911138 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known splice_site c.2790+1 e18+1 1.000 - - - no_errors IBTK HGNC ENSG00000005700 tier1 - - 22 0 0.00 12 6 33.33 IFNL2 0 genome.wustl.edu 37 19 39759837 39759837 + Missense_Mutation SNP T T A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 39759837 39759837 T A SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.238 p.F80I 0.849 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 tier1 - - 41 0 0.00 56 11 16.42 KIAA1919 0 genome.wustl.edu 37 6 111587418 111587418 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 111587418 111587418 C G SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.653 p.A218G 0.069 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 73 0 0.00 55 10 15.38 RYR1 0 genome.wustl.edu 37 19 38990310 38990310 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 38990310 38990310 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7063 p.R2355W 1.000 pfam_Ca-rel_channel 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 rs193922803 - 37 0 0.00 23 27 52.94 RASAL1 0 genome.wustl.edu 37 12 113539812 113539812 + Missense_Mutation SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 12 113539812 113539812 C T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.2110 p.A704T 0.004 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 tier1 rs200091326 - 65 0 0.00 69 16 18.82 TXLNB 0 genome.wustl.edu 37 6 139564104 139564104 + Silent SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 6 139564104 139564104 G C SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.1614 p.L538 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 tier1 - - 46 0 0.00 51 11 17.74 PLEKHA7 0 genome.wustl.edu 37 11 16810669 16810669 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 11 16810669 16810669 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.3334 p.R1112W 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 22 0 0.00 18 4 17.39 CDH26 0 genome.wustl.edu 37 20 58571109 58571109 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 20 58571109 58571109 G A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1888 p.V630M 0.992 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 76 0 0.00 106 16 13.11 SYT6 0 genome.wustl.edu 37 1 114641799 114641799 + Silent SNP G G C TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 114641799 114641799 G C SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known silent c.1281 p.V427 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 tier1 - - 183 0 0.00 143 30 17.34 HIGD1B 0 genome.wustl.edu 37 17 42926715 42926715 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 42926715 42926715 G A SNP HIGD1B ENST00000253410 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD1B HGNC ENSG00000131097 tier1 - - 60 0 0.00 68 16 19.05 MARCH6 0 genome.wustl.edu 37 5 10403604 10403604 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 5 10403604 10403604 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1283 p.G428E 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 45 0 0.00 106 31 22.63 TBX2 0 genome.wustl.edu 37 17 59477918 59477918 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 17 59477918 59477918 C T SNP TBX2 ENST00000419047 human ensembl 74_37 +1 known silent c.381 p.I127 0.999 pfam_TF_T-box,superfamily_p53-like_TF_D-bd,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_D-bd,pfscan_TF_T-box - no_errors TBX2 HGNC ENSG00000121068 tier1 - - 28 0 0.00 76 9 10.59 YY1AP1 0 genome.wustl.edu 37 1 155658167 155658167 + Missense_Mutation SNP C C G TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 155658167 155658167 C G SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.89 p.S30T 0.997 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 tier1 - - 42 0 0.00 76 27 26.21 TRMT1 0 genome.wustl.edu 37 19 13218410 13218410 + Missense_Mutation SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 19 13218410 13218410 G A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.1561 p.R521C 1.000 NULL pfam_TRM1,pfam_Znf_CCCH,pfam_tR_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 tier1 - - 48 0 0.00 64 9 12.16 JPH2 0 genome.wustl.edu 37 20 42788548 42788548 + Silent SNP G G A TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 20 42788548 42788548 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.879 p.G293 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 tier1 - - 40 0 0.00 51 15 22.73 KIAA2013 0 genome.wustl.edu 37 1 11983547 11983547 + Splice_Site SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c59fb2d-21b6-4b09-8174-6102de736e4d bab2414e-d20b-4b79-ae79-1223a627736e 1 11983547 11983547 C T SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known splice_site c.1034-1 e2-1 1.000 - - - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 82 0 0.00 67 20 22.99