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 PTPN21 0 genome.wustl.edu 37 14 88946616 88946616 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 14 88946616 88946616 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1159 p.G387S 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 29 0 0.00 27 6 18.18 120 0 0.00 127 26 16.99 PPCS 0 genome.wustl.edu 37 1 42925276 42925276 + Missense_Mutation SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 1 42925276 42925276 A G SNP PPCS ENST00000372561 human ensembl 74_37 +1 known missense c.615 p.I205M 1.000 pfam_D/pantothenate-metab_flavo_C,superfamily_D/pantothenate-metab_flavo_C pfam_D/pantothenate-metab_flavo_C,superfamily_D/pantothenate-metab_flavo_C - no_errors PPCS HGNC ENSG00000127125 tier1 - - 25 0 0.00 26 38 59.38 139 0 0.00 45 63 58.33 FOLH1 0 genome.wustl.edu 37 11 49207240 49207240 + Silent SNP T T G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 49207240 49207240 T G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.807 p.T269 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 91 0 0.00 72 29 28.71 131 0 0.00 93 25 21.19 ENSG00000227407 0 genome.wustl.edu 37 19 54942232 54942232 + R SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 54942232 54942232 G A SNP ENSG00000227407 ENST00000457113 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008746.3 Clone_based_vega_gene ENSG00000227407 tier1 - - 61 0 0.00 90 21 18.92 16 0 0.00 15 4 21.05 LOC101927211 0 genome.wustl.edu 37 6 57015419 57015419 + R SNP A A T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 6 57015419 57015419 A T SNP LOC101927211 ENST00000589263 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-203B9.4 Clone_based_vega_gene ENSG00000226803 tier1 - - 30 0 0.00 14 35 71.43 175 0 0.00 36 83 69.75 CLDN8 0 genome.wustl.edu 37 21 31588020 31588020 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 21 31588020 31588020 G A SNP CLDN8 ENST00000286809 human ensembl 74_37 -1 known missense c.224 p.P75L 0.789 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 tier1 - - 62 0 0.00 30 28 48.28 107 0 0.00 25 34 57.63 BCL7B 0 genome.wustl.edu 37 7 72951686 72951686 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 72951686 72951686 G A SNP BCL7B ENST00000223368 human ensembl 74_37 -1 known missense c.551 p.P184L 0.954 NULL pfam_BCL7 - no_errors BCL7B HGNC ENSG00000106635 tier1 - - 55 0 0.00 32 13 28.89 29 0 0.00 27 19 40.43 MAGEC1 0 genome.wustl.edu 37 X 140996581 140996581 + Missense_Mutation SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 X 140996581 140996581 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3391 p.S1131G 0.009 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 41 0 0.00 8 48 85.71 75 0 0.00 16 68 80.95 LPHN1 0 genome.wustl.edu 37 19 14288464 14288464 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 14288464 14288464 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.163 p.V55I 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 tier1 - - 42 0 0.00 38 8 17.39 52 0 0.00 52 14 21.21 MOGAT2 0 genome.wustl.edu 37 11 75440005 75440005 + Missense_Mutation SNP T T A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 75440005 75440005 T A SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known missense c.821 p.I274K 0.099 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 tier1 - - 26 0 0.00 29 6 17.14 118 0 0.00 122 14 10.22 OTOG 0 genome.wustl.edu 37 11 17653668 17653668 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 17653668 17653668 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.7003 p.R2335W 0.999 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 57 0 0.00 59 18 23.08 81 0 0.00 76 16 17.39 SIAE 0 genome.wustl.edu 37 11 124543597 124543597 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 124543597 124543597 G A SNP SIAE ENST00000263593 human ensembl 74_37 -1 known missense c.8 p.A3V 0.000 NULL pfam_DUF303_acetylest - no_errors SIAE HGNC ENSG00000110013 tier1 - - 232 0 0.00 100 45 31.03 26 0 0.00 21 4 16.00 ILVBL 0 genome.wustl.edu 37 19 15234361 15234361 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 15234361 15234361 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.162 p.G54 0.470 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 tier1 - - 36 0 0.00 21 7 25.00 32 0 0.00 29 9 23.68 GJA8 0 genome.wustl.edu 37 1 147380140 147380140 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 1 147380140 147380140 G A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.58 p.V20I 0.995 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 tier1 - - 35 0 0.00 17 36 67.92 87 0 0.00 26 73 73.74 VSIG10L 0 genome.wustl.edu 37 19 51844468 51844468 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 51844468 51844468 C T SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel silent c.834 p.T278 0.015 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 72 0 0.00 82 18 18.00 55 0 0.00 61 19 23.75 CHR7 0 genome.wustl.edu 37 15 32460274 32460274 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 15 32460274 32460274 C T SNP CHR7 ENST00000454250 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.031 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR7 HGNC ENSG00000175344 tier1 - - 108 0 0.00 103 19 15.57 6 0 0.00 10 2 16.67 FAT1 0 genome.wustl.edu 37 4 187539627 187539627 + Nonsense_Mutation SNP C C A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 4 187539627 187539627 C A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.8113 p.E2705* 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 31 0 0.00 7 21 75.00 156 0 0.00 27 59 68.60 SCN8A 0 genome.wustl.edu 37 12 52159701 52159701 + Nonsense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 52159701 52159701 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known nonsense c.2791 p.R931* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 69 0 0.00 53 23 30.26 109 0 0.00 69 16 18.82 ITGB7 0 genome.wustl.edu 37 12 53585695 53585695 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 53585695 53585695 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.2264 p.R755H 0.996 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 tier1 - - 91 0 0.00 68 17 20.00 46 0 0.00 32 16 32.65 SLC7A3 0 genome.wustl.edu 37 X 70147136 70147136 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 X 70147136 70147136 G A SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.1282 p.L428F 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 tier1 - - 25 0 0.00 21 20 48.78 46 0 0.00 39 27 40.91 KIAA0355 0 genome.wustl.edu 37 19 34838875 34838875 + Missense_Mutation SNP A A T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 34838875 34838875 A T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.2615 p.N872I 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 39 0 0.00 30 11 26.19 42 0 0.00 42 14 25.00 RGS3 0 genome.wustl.edu 37 9 116359104 116359104 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 9 116359104 116359104 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known silent c.3468 p.T1156 0.345 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 72 0 0.00 77 16 17.20 43 0 0.00 44 25 36.23 AQP12B 0 genome.wustl.edu 37 2 241622006 241622006 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 2 241622006 241622006 G A SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known silent c.249 p.H83 0.972 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 tier1 - - 127 0 0.00 88 25 22.12 52 1 1.89 44 6 11.54 HAPLN1 0 genome.wustl.edu 37 5 82940427 82940427 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 5 82940427 82940427 G A SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.530 p.A177V 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 tier1 - - 41 0 0.00 38 16 29.63 61 0 0.00 46 16 25.81 ITPR2 0 genome.wustl.edu 37 12 26592165 26592165 + Missense_Mutation SNP C C A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 26592165 26592165 C A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6538 p.V2180L 0.996 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 57 0 0.00 26 19 42.22 109 0 0.00 31 27 46.55 AASDHPPT 0 genome.wustl.edu 37 11 105967630 105967630 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 105967630 105967630 C T SNP AASDHPPT ENST00000278618 human ensembl 74_37 +1 known missense c.926 p.S309L 1.000 NULL pfam_4-PPantetheinyl_Trfase_SF,superfamily_4-PPantetheinyl_Trfase_SF - no_errors AASDHPPT HGNC ENSG00000149313 tier1 - - 25 0 0.00 11 7 38.89 129 0 0.00 66 38 36.54 SHANK1 0 genome.wustl.edu 37 19 51201120 51201120 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 51201120 51201120 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.1841 p.R614H 0.109 superfamily_SH3_domain 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 - - 78 0 0.00 78 25 24.27 90 0 0.00 85 31 26.72 TOX2 0 genome.wustl.edu 37 20 42635240 42635240 + Silent SNP A A T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 20 42635240 42635240 A T SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known silent c.219 p.T73 0.963 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 tier1 - - 58 0 0.00 31 18 36.73 101 1 0.97 41 21 33.87 OR2V2 0 genome.wustl.edu 37 5 180582017 180582017 + Missense_Mutation SNP C C A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 5 180582017 180582017 C A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.75 p.D25E 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 - - 76 0 0.00 62 26 29.55 88 0 0.00 59 30 33.71 ZNF467 0 genome.wustl.edu 37 7 149462898 149462898 + Silent SNP C C A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 149462898 149462898 C A SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known silent c.693 p.L231 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 34 0 0.00 39 10 20.41 15 0 0.00 12 5 29.41 STAB2 0 genome.wustl.edu 37 12 103981330 103981330 + Missense_Mutation SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 103981330 103981330 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.76 p.G26W 0.000 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 44 0 0.00 41 9 18.00 129 0 0.00 88 15 14.56 LILRA1 0 genome.wustl.edu 37 19 55107308 55107308 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 55107308 55107308 G A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.866 p.R289H 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 tier1 - - 185 0 0.00 148 41 21.58 8 0 0.00 13 2 13.33 HPSE2 0 genome.wustl.edu 37 10 100503735 100503735 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 100503735 100503735 C T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.689 p.R230H 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 56 0 0.00 28 12 30.00 149 0 0.00 63 39 38.24 MYO18B 0 genome.wustl.edu 37 22 26247469 26247469 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 22 26247469 26247469 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.3808 p.R1270C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 53 0 0.00 72 30 29.41 39 0 0.00 57 14 19.72 SSPO 0 genome.wustl.edu 37 7 149480380 149480380 + R SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 149480380 149480380 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 30 0 0.00 57 9 13.64 31 0 0.00 26 7 21.21 GPR50 0 genome.wustl.edu 37 X 150345294 150345294 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 X 150345294 150345294 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.101 p.A34V 0.649 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 tier1 - - 71 0 0.00 62 35 36.08 44 0 0.00 51 18 26.09 DTHD1 0 genome.wustl.edu 37 4 36295187 36295187 + Missense_Mutation SNP T T G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 4 36295187 36295187 T G SNP DTHD1 ENST00000456874 human ensembl 74_37 +1 known missense c.883 p.F295V 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 tier1 - - 67 0 0.00 70 18 20.45 142 0 0.00 97 28 22.40 RSAD1 0 genome.wustl.edu 37 17 48562112 48562112 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 17 48562112 48562112 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.1219 p.R407W 1.000 pfam_HemN_C_dom pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 79 0 0.00 51 25 32.89 105 0 0.00 81 26 24.30 CERKL 0 genome.wustl.edu 37 2 182403828 182403828 + Missense_Mutation SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 2 182403828 182403828 A G SNP CERKL ENST00000339098 human ensembl 74_37 -1 known missense c.1607 p.V536A 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 tier1 - - 161 0 0.00 28 88 75.86 79 0 0.00 19 55 74.32 ZNF665 0 genome.wustl.edu 37 19 53668216 53668216 + Silent SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 53668216 53668216 A G SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known silent c.1527 p.T509 0.405 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 tier1 - - 55 0 0.00 90 23 20.35 27 0 0.00 37 12 24.49 TRPV5 0 genome.wustl.edu 37 7 142627168 142627168 + Missense_Mutation SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 142627168 142627168 A G SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.334 p.C112R 0.779 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 tier1 - - 32 0 0.00 19 9 32.14 110 0 0.00 48 25 34.25 CNTP2 0 genome.wustl.edu 37 7 148080943 148080943 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 148080943 148080943 C T SNP CNTP2 ENST00000361727 human ensembl 74_37 +1 known silent c.3678 p.S1226 0.004 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP2 HGNC ENSG00000174469 tier1 - - 42 0 0.00 66 15 18.52 36 0 0.00 35 6 14.63 PCDHA6 0 genome.wustl.edu 37 5 140208762 140208762 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 5 140208762 140208762 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1086 p.D362 0.935 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 70 0 0.00 40 12 23.08 24 0 0.00 13 8 38.10 C10orf54 0 genome.wustl.edu 37 10 73521633 73521633 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 73521633 73521633 C T SNP C10orf54 ENST00000394957 human ensembl 74_37 -1 known missense c.233 p.G78D 0.018 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors C10orf54 HGNC ENSG00000107738 tier1 - - 24 0 0.00 17 13 43.33 54 0 0.00 22 9 29.03 KIR3DX1 0 genome.wustl.edu 37 19 55048149 55048149 + Missense_Mutation SNP A A C TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 55048149 55048149 A C SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.716 p.K239T 0.063 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 47 0 0.00 30 10 25.00 95 0 0.00 68 25 26.60 HPSE2 0 genome.wustl.edu 37 10 100242511 100242511 + Missense_Mutation SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 100242511 100242511 G T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.1495 p.L499I 1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 45 0 0.00 34 11 24.44 123 1 0.81 50 29 36.71 ANK3 0 genome.wustl.edu 37 10 61834026 61834026 + Missense_Mutation SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 61834026 61834026 G T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6613 p.P2205T 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 34 0 0.00 16 7 30.43 160 1 0.62 53 39 42.39 LRP2 0 genome.wustl.edu 37 2 170062573 170062573 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 2 170062573 170062573 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.7516 p.V2506I 0.815 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 rs199918722 - 18 0 0.00 2 16 88.89 148 0 0.00 21 77 78.57 MMRN2 0 genome.wustl.edu 37 10 88717176 88717176 + Nonsense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 88717176 88717176 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known nonsense c.123 p.W41* 0.002 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tR-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 68 0 0.00 13 15 53.57 76 0 0.00 28 17 37.78 TP53I11 0 genome.wustl.edu 37 11 44925357 44925357 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 44925357 44925357 G A SNP TP53I11 ENST00000354556 human ensembl 74_37 -1 known missense c.419 p.A140V 0.001 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 tier1 - - 60 0 0.00 64 10 13.51 182 0 0.00 134 38 22.09 GALNT18 0 genome.wustl.edu 37 11 11454275 11454275 + Missense_Mutation SNP A A T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 11454275 11454275 A T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.488 p.V163D 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 39 0 0.00 32 5 13.51 65 0 0.00 83 12 12.63 PMCHL1 0 genome.wustl.edu 37 5 22142560 22142560 + R SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 5 22142560 22142560 C T SNP PMCHL1 ENST00000418902 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors PMCHL1 HGNC ENSG00000168967 tier1 - - 86 0 0.00 110 19 14.73 135 0 0.00 121 33 21.43 GUCY2F 0 genome.wustl.edu 37 X 108708524 108708524 + Silent SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 X 108708524 108708524 G T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.879 p.T293 0.978 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 36 0 0.00 42 25 37.31 82 0 0.00 59 36 37.89 TFDP1 0 genome.wustl.edu 37 13 114294576 114294576 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 13 114294576 114294576 C T SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known silent c.1227 p.D409 0.006 NULL pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 tier1 - - 65 0 0.00 69 53 43.44 30 0 0.00 32 12 27.27 MROH7-TTC4 0 genome.wustl.edu 37 1 55151962 55151962 + Missense_Mutation SNP T T G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 1 55151962 55151962 T G SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.2552 p.V851G 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 31 0 0.00 16 27 62.79 54 0 0.00 28 20 41.67 HCAR2 0 genome.wustl.edu 37 12 123187043 123187043 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 123187043 123187043 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.788 p.T263M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 - - 59 0 0.00 47 10 17.54 74 0 0.00 53 13 19.40 KLK15 0 genome.wustl.edu 37 19 51330315 51330315 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 51330315 51330315 C T SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known silent c.300 p.A100 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 tier1 - - 45 0 0.00 37 11 22.92 20 0 0.00 27 9 25.00 SEZ6L 0 genome.wustl.edu 37 22 26688611 26688611 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 22 26688611 26688611 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.334 p.A112T 0.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 128 0 0.00 224 28 11.02 45 0 0.00 77 13 14.44 LHX5 0 genome.wustl.edu 37 12 113906052 113906052 + Silent SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 12 113906052 113906052 G T SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known silent c.555 p.T185 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX5 HGNC ENSG00000089116 tier1 - - 41 0 0.00 16 7 30.43 16 0 0.00 15 6 28.57 PKHD1 0 genome.wustl.edu 37 6 51747956 51747956 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 6 51747956 51747956 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.7285 p.V2429I 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 rs148284341 - 65 0 0.00 74 17 18.68 139 0 0.00 172 26 13.13 MYO5B 0 genome.wustl.edu 37 18 47431168 47431168 + Silent SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 18 47431168 47431168 C T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.2445 p.A815 0.001 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 110 0 0.00 67 18 21.18 62 0 0.00 42 17 28.81 ARAP2 0 genome.wustl.edu 37 4 36212335 36212335 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 4 36212335 36212335 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1164 p.S388 0.810 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 21 0 0.00 13 12 48.00 132 0 0.00 93 59 38.56 CLEC3A 0 genome.wustl.edu 37 16 78064763 78064763 + R SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 16 78064763 78064763 G T SNP CLEC3A ENST00000565808 human ensembl 74_37 +1 putative rna NULL NULL 0.578 - - - no_errors CLEC3A HGNC ENSG00000166509 tier1 - - 47 0 0.00 30 19 38.78 125 1 0.79 48 18 27.27 MYBPC3 0 genome.wustl.edu 37 11 47372888 47372888 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 47372888 47372888 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.194 p.T65M 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 39 0 0.00 26 4 13.33 52 0 0.00 55 10 15.38 ING2 0 genome.wustl.edu 37 4 184431445 184431445 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 4 184431445 184431445 G A SNP ING2 ENST00000302327 human ensembl 74_37 +1 known silent c.183 p.K61 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 tier1 - - 36 0 0.00 19 22 52.38 64 0 0.00 26 10 27.78 KCNG4 0 genome.wustl.edu 37 16 84270517 84270517 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 16 84270517 84270517 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.575 p.R192H 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 tier1 - - 89 0 0.00 23 18 41.86 23 0 0.00 11 3 21.43 SF1 0 genome.wustl.edu 37 11 64532898 64532898 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 64532898 64532898 C T SNP SF1 ENST00000334944 human ensembl 74_37 -1 known missense c.1880 p.R627H 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 - - 55 0 0.00 45 13 22.41 137 0 0.00 118 35 22.88 VRTN 0 genome.wustl.edu 37 14 74823735 74823735 + Silent SNP C C A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 14 74823735 74823735 C A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.249 p.G83 0.967 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 tier1 - - 15 0 0.00 16 9 34.62 9 0 0.00 16 2 11.11 OR4C5 0 genome.wustl.edu 37 11 48387926 48387926 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 11 48387926 48387926 G A SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known missense c.92 p.T31M 0.963 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 - - 68 0 0.00 57 14 19.72 136 1 0.73 77 34 30.63 COL22A1 0 genome.wustl.edu 37 8 139606332 139606332 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 8 139606332 139606332 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4543 p.G1515S 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 90 0 0.00 39 17 30.36 17 0 0.00 7 7 50.00 KCNH2 0 genome.wustl.edu 37 7 150642533 150642533 + Nonsense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 150642533 150642533 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known nonsense c.3400 p.R1134* 0.996 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 40 0 0.00 32 32 50.00 13 0 0.00 8 13 61.90 KIR3DL2 0 genome.wustl.edu 37 19 55363537 55363537 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 55363537 55363537 G A SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.155 p.R52H 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 tier1 - - 31 0 0.00 20 12 37.50 12 0 0.00 6 3 33.33 KLF2 0 genome.wustl.edu 37 19 16437824 16437824 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 16437824 16437824 C T SNP KLF2 ENST00000592003 human ensembl 74_37 +1 putative missense c.233 p.T78I 1.000 NULL NULL - no_errors KLF2 HGNC ENSG00000127528 tier1 - - 55 0 0.00 74 16 17.78 6 0 0.00 7 3 30.00 MATK 0 genome.wustl.edu 37 19 3778349 3778349 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 3778349 3778349 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known silent c.1359 p.P453 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 - - 79 0 0.00 11 63 85.14 17 0 0.00 5 24 82.76 FTMT 0 genome.wustl.edu 37 5 121187750 121187750 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 5 121187750 121187750 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.92 p.R31H 0.371 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 tier1 - - 24 0 0.00 14 6 30.00 5 0 0.00 2 1 33.33 KCNMA1 0 genome.wustl.edu 37 10 79397225 79397225 + Missense_Mutation SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 79397225 79397225 G T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.176 p.S59Y 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 37 0 0.00 47 15 24.19 7 0 0.00 6 1 14.29 ANKRD30BP2 0 genome.wustl.edu 37 21 14410709 14410709 + R SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 21 14410709 14410709 C T SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 127 0 0.00 93 18 16.22 2 0 0.00 1 0 0.00 ENSG00000201913 0 genome.wustl.edu 37 7 99928403 99928403 + R SNP T T C TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 99928403 99928403 T C SNP ENSG00000201913 ENST00000365043 human ensembl 74_37 -1 novel rna NULL NULL 0.023 - - - no_errors Y_R RFAM ENSG00000201913 tier1 - - 35 0 0.00 37 5 11.90 0 0 0.00 0 0 0.00 FAM86B3P 0 genome.wustl.edu 37 8 8092059 8092059 + R SNP A A G TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 8 8092059 8092059 A G SNP FAM86B3P ENST00000522601 human ensembl 74_37 +1 known rna NULL NULL 0.354 - - - no_errors FAM86B3P HGNC ENSG00000173295 tier1 - - 216 0 0.00 199 39 16.32 0 0 0.00 0 0 0.00 KCNMA1 0 genome.wustl.edu 37 10 79397243 79397243 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 10 79397243 79397243 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.158 p.S53F 0.999 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 27 0 0.00 42 13 23.64 4 0 0.00 5 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143378850 143378850 + R SNP G G T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 1 143378850 143378850 G T SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 160 0 0.00 196 24 10.91 0 0 0.00 1 0 0.00 MEGF9 0 genome.wustl.edu 37 9 123476543 123476548 + In_Frame_Del DEL CGGCGG CGGCGG - TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 CGGCGG CGGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 9 123476543 123476548 CGGCGG - DEL MEGF9 ENST00000426959 human ensembl 74_37 -1 known in_frame_del c.70_65 p.AA22in_frame_del 0.255:0.243:0.247:0.263:0.993:0.998 NULL pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 NXNL2 0 genome.wustl.edu 37 9 91150536 91150536 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 9 91150536 91150536 G A SNP NXNL2 ENST00000375854 human ensembl 74_37 +1 known missense c.187 p.A63T 0.997 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 tier1 - - 11 0 0.00 8 4 33.33 4 0 0.00 0 2 100.00 CENPO 0 genome.wustl.edu 37 2 25016757 25016757 + R SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 2 25016757 25016757 C T SNP CENPO ENST00000473476 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors CENPO HGNC ENSG00000138092 tier1 - - 67 0 0.00 29 5 14.71 117 0 0.00 54 2 3.57 MYO1G 0 genome.wustl.edu 37 7 45005706 45005706 + Missense_Mutation SNP C C T TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 7 45005706 45005706 C T SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.2123 p.R708H 0.001 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 tier1 - - 32 0 0.00 9 7 43.75 32 0 0.00 35 2 5.41 HCN2 0 genome.wustl.edu 37 19 603785 603785 + Missense_Mutation SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 19 603785 603785 G A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.874 p.V292M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 - - 71 0 0.00 56 12 17.65 32 0 0.00 36 2 5.26 USP32P1 0 genome.wustl.edu 37 17 16706243 16706243 + R SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 17 16706243 16706243 G A SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.061 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 - - 67 0 0.00 94 20 17.54 44 0 0.00 43 2 4.44 CP 0 genome.wustl.edu 37 3 148924108 148924108 + Frame_Shift_Del DEL A A - TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0851f971-c95c-4c39-8390-f62598885c5a f97fc91e-8830-4217-9c02-02531bdffc59 3 148924108 148924108 A - DEL CP ENST00000264613 human ensembl 74_37 -1 known frame_shift_del c.1055 p.F352fs 1.000 pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 tier1 28 0 0.00 22 3 12.00 142 0 0.00 85 2 2.30