Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF MAGI3 0 genome.wustl.edu 37 1 114201842 114201842 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 114201842 114201842 A G SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.2770 p.K924E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 155 0 0 79 24 23.301 NBPF12 0 genome.wustl.edu 37 1 146408168 146408168 + Splice_Site SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 146408168 146408168 G A SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known splice_site c.988+1 e7+1 0.140 - - - no_errors NBPF12 HGNC ENSG00000186275 216 0 0 52 75 59.0551 SETDB1 0 genome.wustl.edu 37 1 150936523 150936523 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 150936523 150936523 A G SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.3722 p.D1241G 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 93 0 0 46 23 33.3333 MST1L 0 genome.wustl.edu 37 1 17084545 17084545 + RNA SNP G G T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 17084545 17084545 G T SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 124 0 0 61 9 12.8571 CROCC 0 genome.wustl.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 17272075 17272075 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.2110 p.A704T 0.998 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 38 0 0 17 3 15 ASPM 0 genome.wustl.edu 37 1 197059184 197059184 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 197059184 197059184 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.9860 p.C3287Y 1.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 175 0 0 55 77 58.3333 PFKFB2 0 genome.wustl.edu 37 1 207243623 207243623 + Splice_Site SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 207243623 207243623 A C SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known splice_site c.1093-2 e11-2 1.000 - - - no_errors PFKFB2 HGNC ENSG00000123836 59 0 0 7 22 75.8621 RPS6KC1 0 genome.wustl.edu 37 1 213415558 213415558 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 213415558 213415558 G A SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.2739 p.M913I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 241 0 0 70 121 63.3508 SLC6A9 0 genome.wustl.edu 37 1 44467189 44467189 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 44467189 44467189 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1292 p.R431H 0.855 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 149 0 0 54 40 42.5532 NRD1 0 genome.wustl.edu 37 1 52260202 52260202 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 52260202 52260202 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.2921 p.C974Y 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 579 0 0 147 213 59.1667 ANKRD13C 0 genome.wustl.edu 37 1 70728369 70728369 + RNA SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 1 70728369 70728369 C T SNP ANKRD13C ENST00000464236 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD13C HGNC ENSG00000118454 338 0 0 158 53 25.1185 PROSER2 0 genome.wustl.edu 37 10 11894067 11894067 + RNA SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 10 11894067 11894067 C T SNP PROSER2 ENST00000474155 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PROSER2 HGNC ENSG00000148426 37 0 0 22 13 37.1429 LHPP 0 genome.wustl.edu 37 10 126172767 126172767 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 10 126172767 126172767 C A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known missense c.185 p.A62E 0.005 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 71 0 0 62 7 10.1449 C11orf84 0 genome.wustl.edu 37 11 63594451 63594451 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 63594451 63594451 G A SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.986 p.R329Q 0.996 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 34 0 0 34 3 8.10811 FOLH1B 0 genome.wustl.edu 37 11 89431668 89431668 + RNA SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 89431668 89431668 A C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors FOLH1B HGNC ENSG00000134612 255 1 0.390625 121 42 25.7669 FAT3 0 genome.wustl.edu 37 11 92086454 92086454 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 92086454 92086454 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.1176 p.G392 0.362 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,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,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 48 0 0 12 24 66.6667 KDM4D 0 genome.wustl.edu 37 11 94731169 94731169 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 94731169 94731169 T C SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known silent c.633 p.T211 0.030 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 147 0 0 35 69 66.3462 SBF2 0 genome.wustl.edu 37 11 9810669 9810669 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 9810669 9810669 G A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.4919 p.T1640I 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 113 0 0 23 40 63.4921 HECTD4 0 genome.wustl.edu 37 12 112685929 112685929 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 112685929 112685929 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.3674 p.A1225V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 61 0 0 53 4 7.01754 MORN3 0 genome.wustl.edu 37 12 122091042 122091042 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 122091042 122091042 C A SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.587 p.G196V 1.000 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 56 0 0 46 3 6.12245 PRICKLE1 0 genome.wustl.edu 37 12 42858814 42858814 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 42858814 42858814 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1022 p.R341Q 0.846 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 176 0 0 95 76 44.4444 PUS7L 0 genome.wustl.edu 37 12 44148392 44148392 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 44148392 44148392 A T SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known missense c.657 p.F219L 1.000 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 148 1 0.671141 145 36 19.8895 LARP4 0 genome.wustl.edu 37 12 50821557 50821557 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 50821557 50821557 A G SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known missense c.31 p.K11E 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 165 0 0 61 53 46.4912 KRT74 0 genome.wustl.edu 37 12 52964594 52964594 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 52964594 52964594 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known silent c.867 p.H289 0.000 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 84 0 0 49 10 16.9492 MGAT4C 0 genome.wustl.edu 37 12 86373791 86373791 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 86373791 86373791 T G SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.800 p.K267T 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 142 0 0 64 57 47.1074 MGAT4C 0 genome.wustl.edu 37 12 86383296 86383296 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 12 86383296 86383296 A C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.116 p.I39S 0.999 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 87 0 0 64 19 22.8916 DCLK1 0 genome.wustl.edu 37 13 36700071 36700071 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 13 36700071 36700071 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.204 p.Y68 1.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 150 0 0 168 22 11.5789 EDNRB 0 genome.wustl.edu 37 13 78492471 78492471 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 13 78492471 78492471 A G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.238 p.S80P 0.000 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 113 0 0 89 19 17.5926 ENSG00000244306 0 genome.wustl.edu 37 14 19856879 19856879 + RNA SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 14 19856879 19856879 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 142 0 0 122 9 6.87023 DLGAP5 0 genome.wustl.edu 37 14 55655676 55655676 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 14 55655676 55655676 C T SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known silent c.222 p.K74 0.044 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 146 0 0 73 62 45.9259 FOXN3 0 genome.wustl.edu 37 14 89878584 89878584 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 14 89878584 89878584 C T SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known silent c.237 p.S79 0.560 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 142 0 0 108 34 23.9437 LGMN 0 genome.wustl.edu 37 14 93176169 93176169 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 14 93176169 93176169 C T SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.868 p.A290T 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 179 0 0 103 75 42.1348 UNC79 0 genome.wustl.edu 37 14 94088466 94088466 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 14 94088466 94088466 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4953 p.S1651 0.994 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 214 0 0 133 42 24 DNM1P46 0 genome.wustl.edu 37 15 100340420 100340420 + RNA SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 15 100340420 100340420 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 13 0 0 5 4 44.4444 ALDH1A3 0 genome.wustl.edu 37 15 101445802 101445802 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 15 101445802 101445802 C T SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known silent c.1143 p.C381 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 112 0 0 37 41 52.5641 SNHG14 0 genome.wustl.edu 37 15 25349927 25349927 + RNA SNP T T A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 15 25349927 25349927 T A SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 59 0 0 16 32 66.6667 CSPG4 0 genome.wustl.edu 37 15 75974714 75974714 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 15 75974714 75974714 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.4870 p.R1624W 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 58 0 0 28 41 59.4203 ZNF710 0 genome.wustl.edu 37 15 90617399 90617399 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 15 90617399 90617399 C T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.1702 p.L568 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 84 0 0 48 35 42.1687 ZNF768 0 genome.wustl.edu 37 16 30536081 30536081 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 16 30536081 30536081 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known silent c.1380 p.P460 0.863 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 16 0 0 22 11 33.3333 ENSG00000261711 0 genome.wustl.edu 37 16 34713685 34713685 + RNA SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 16 34713685 34713685 T G SNP ENSG00000261711 ENST00000564452 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 22 0 0 17 5 22.7273 CDH11 0 genome.wustl.edu 37 16 65016134 65016134 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 16 65016134 65016134 T G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1070 p.K357T 0.938 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 152 0 0 36 71 66.3551 PSKH1 0 genome.wustl.edu 37 16 67961298 67961298 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 16 67961298 67961298 G C SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.1028 p.R343P 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH1 HGNC ENSG00000159792 141 0 0 29 64 68.8172 SLC7A6 0 genome.wustl.edu 37 16 68325560 68325560 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 16 68325560 68325560 T G SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.1018 p.S340A 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 338 0 0 170 80 32 CLUH 0 genome.wustl.edu 37 17 2604521 2604521 + Missense_Mutation SNP G G T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 2604521 2604521 G T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.824 p.P275H 1.000 superfamily_GSKIP_dom superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 26 0 0 22 7 24.1379 SLFN12L 0 genome.wustl.edu 37 17 33802111 33802111 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 33802111 33802111 G A SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known missense c.1691 p.S564L 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 107 0 0 99 55 35.7143 CDK12 0 genome.wustl.edu 37 17 37650864 37650864 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 37650864 37650864 G A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2336 p.R779H 1.000 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 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 CDK12 HGNC ENSG00000167258 37 0 0 66 13 16.4557 PGAP3 0 genome.wustl.edu 37 17 37829375 37829375 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 37829375 37829375 C T SNP PGAP3 ENST00000300658 human ensembl 74_37 -1 known silent c.828 p.P276 0.000 pfam_Per1 pfam_Per1 - no_errors PGAP3 HGNC ENSG00000161395 10 0 0 10 11 52.381 LRRC59 0 genome.wustl.edu 37 17 48462540 48462540 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 48462540 48462540 G A SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known silent c.615 p.A205 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 319 0 0 278 65 18.9504 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 14 0 0 22 3 12 TMEM95 0 genome.wustl.edu 37 17 7258584 7258584 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 7258584 7258584 C T SNP TMEM95 ENST00000389982 human ensembl 74_37 +1 known missense c.61 p.R21C 0.172 NULL NULL - no_errors TMEM95 HGNC ENSG00000182896 38 0 0 21 22 51.1628 EXOC7 0 genome.wustl.edu 37 17 74081411 74081411 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 74081411 74081411 G A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known nonsense c.1849 p.Q617* 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 18 0 0 9 7 43.75 SEC14L1 0 genome.wustl.edu 37 17 75196749 75196749 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 75196749 75196749 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1003 p.D335N 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 229 0 0 138 87 38.6667 KLHL14 0 genome.wustl.edu 37 18 30260165 30260165 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 18 30260165 30260165 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.1555 p.R519C 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 181 0 0 51 58 53.211 CCDC178 0 genome.wustl.edu 37 18 30847015 30847015 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 18 30847015 30847015 T G SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1274 p.K425T 0.959 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 83 0 0 49 21 30 NOL4 0 genome.wustl.edu 37 18 31538236 31538236 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 18 31538236 31538236 G A SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known silent c.1203 p.D401 0.892 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 213 0 0 116 37 24.183 C18orf25 0 genome.wustl.edu 37 18 43843012 43843012 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 18 43843012 43843012 T C SNP C18orf25 ENST00000282059 human ensembl 74_37 +1 known silent c.1143 p.T381 0.963 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 89 0 0 20 47 70.1493 PTPRM 0 genome.wustl.edu 37 18 8113545 8113545 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 18 8113545 8113545 T G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1918 p.L640V 1.000 smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 163 0 0 135 64 32.1608 ZNF44 0 genome.wustl.edu 37 19 12383467 12383467 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 12383467 12383467 T C SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.1747 p.K583E 0.050 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 77 0 0 49 3 5.76923 ZNF790 0 genome.wustl.edu 37 19 37314605 37314605 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 37314605 37314605 C T SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.97 p.V33M 0.985 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 185 0 0 114 17 12.9771 RYR1 0 genome.wustl.edu 37 19 38983186 38983186 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 38983186 38983186 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.6184 p.R2062C 1.000 superfamily_MG_RAP_rcpt_1 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 105 0 0 75 6 7.40741 ZNF841 0 genome.wustl.edu 37 19 52569312 52569312 + Missense_Mutation SNP T T A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 52569312 52569312 T A SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.1823 p.D608V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 249 0 0 195 29 12.9464 MAP2K7 0 genome.wustl.edu 37 19 7977228 7977228 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 7977228 7977228 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1298 p.A433V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 64 0 0 52 3 5.45455 MUC16 0 genome.wustl.edu 37 19 9010689 9010689 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 19 9010689 9010689 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38972 p.L12991R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 65 0 0 21 30 58.8235 LRP1B 0 genome.wustl.edu 37 2 141625236 141625236 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 141625236 141625236 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4502 p.Q1501P 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 268 0 0 75 90 54.5455 TPO 0 genome.wustl.edu 37 2 1488506 1488506 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 1488506 1488506 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1477 p.G493S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 96 0 0 26 57 68.6747 BAZ2B 0 genome.wustl.edu 37 2 160176909 160176909 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 160176909 160176909 A G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.6374 p.F2125S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 74 0 0 29 39 57.3529 CALCRL 0 genome.wustl.edu 37 2 188210976 188210976 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 188210976 188210976 A C SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.1321 p.L441V 0.975 prints_GCPR_2_calcitonin_rcpt_fam pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 115 0 0 35 43 55.1282 APOB 0 genome.wustl.edu 37 2 21229171 21229171 + Silent SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 21229171 21229171 G C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.10569 p.S3523 0.987 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 302 0 0 221 70 24.055 IQCA1 0 genome.wustl.edu 37 2 237405873 237405873 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 237405873 237405873 A T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.269 p.M90K 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 29 0 0 21 16 43.2432 ADD2 0 genome.wustl.edu 37 2 70933534 70933534 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 70933534 70933534 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.7 p.E3K 0.990 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 83 0 0 21 38 64.4068 M1AP 0 genome.wustl.edu 37 2 74867167 74867167 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 2 74867167 74867167 A G SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.236 p.F79S 1.000 NULL NULL - no_errors M1AP HGNC ENSG00000159374 145 0 0 62 64 50.7937 OVOL2 0 genome.wustl.edu 37 20 18005276 18005276 + RNA SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 20 18005276 18005276 C T SNP OVOL2 ENST00000483661 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OVOL2 HGNC ENSG00000125850 35 0 0 14 12 46.1538 GART 0 genome.wustl.edu 37 21 34876432 34876432 + Nonstop_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 21 34876432 34876432 C A SNP GART ENST00000381815 human ensembl 74_37 -1 known nonstop c.3032 p.*1011L 0.027 NULL pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 68 0 0 42 20 32.2581 PNPLA5 0 genome.wustl.edu 37 22 44287128 44287128 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 22 44287128 44287128 C T SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known silent c.240 p.R80 0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 53 0 0 20 2 9.09091 DRD3 0 genome.wustl.edu 37 3 113890790 113890790 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 113890790 113890790 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.50 p.A17V 0.000 prints_Dopamine_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 9 0 0 3 5 62.5 TMEM108 0 genome.wustl.edu 37 3 133099271 133099271 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 133099271 133099271 C T SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known missense c.716 p.T239I 0.469 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 69 0 0 43 22 33.8462 P2RY12 0 genome.wustl.edu 37 3 151056447 151056447 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 151056447 151056447 G A SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.187 p.L63F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 119 0 0 30 75 71.4286 HACL1 0 genome.wustl.edu 37 3 15613246 15613246 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 15613246 15613246 G A SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known nonsense c.1024 p.Q342* 1.000 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 258 0 0 209 32 13.278 ZMAT3 0 genome.wustl.edu 37 3 178785396 178785396 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 178785396 178785396 C T SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known missense c.145 p.G49R 0.945 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 177 0 0 67 132 66.3317 NEK10 0 genome.wustl.edu 37 3 27216205 27216205 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 27216205 27216205 G A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known silent c.561 p.D187 0.023 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 370 1 0.269542 166 82 33.0645 KLHL40 0 genome.wustl.edu 37 3 42733380 42733380 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 3 42733380 42733380 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known silent c.1761 p.N587 0.779 pfam_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 152 0 0 68 28 29.1667 DDIT4L 0 genome.wustl.edu 37 4 101109017 101109017 + Silent SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 101109017 101109017 A C SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known silent c.399 p.T133 0.549 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 144 0 0 112 28 20 TRPC3 0 genome.wustl.edu 37 4 122853995 122853995 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 122853995 122853995 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.418 p.V140I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_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,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 97 0 0 60 32 34.7826 VEGFC 0 genome.wustl.edu 37 4 177608362 177608362 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 177608362 177608362 T C SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.1124 p.K375R 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 480 0 0 225 165 42.3077 TMPRSS11F 0 genome.wustl.edu 37 4 68964625 68964625 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 68964625 68964625 A C SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.143 p.V48G 1.000 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 185 0 0 74 48 39.3443 YTHDC1 0 genome.wustl.edu 37 4 69197837 69197837 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 69197837 69197837 G C SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1106 p.S369C 1.000 pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 202 0 0 93 54 36.7347 CCDC96 0 genome.wustl.edu 37 4 7043264 7043264 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 7043264 7043264 C T SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1402 p.E468K 0.979 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 515 1 0.193798 219 166 43.1169 AFAP1 0 genome.wustl.edu 37 4 7795508 7795508 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 4 7795508 7795508 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1312 p.A438T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 319 1 0.3125 249 48 16.1616 PCDHA6 0 genome.wustl.edu 37 5 140209731 140209731 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 140209731 140209731 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2055 p.G685 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 54 0 0 55 18 24.6575 PCDHGA4 0 genome.wustl.edu 37 5 140735929 140735929 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 140735929 140735929 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.1162 p.D388N 0.170 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 PCDHGA4 HGNC ENSG00000262576 8 0 0 10 3 23.0769 PCDHGA6 0 genome.wustl.edu 37 5 140755518 140755518 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 140755518 140755518 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1868 p.T623M 0.990 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 PCDHGA6 HGNC ENSG00000253731 96 0 0 71 25 26.0417 FTH1P10 0 genome.wustl.edu 37 5 17354528 17354528 + RNA SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 17354528 17354528 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FTH1P10 HGNC ENSG00000223361 31 0 0 34 22 39.2857 CDH10 0 genome.wustl.edu 37 5 24537713 24537713 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 24537713 24537713 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.302 p.L101P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 155 0 0 112 62 35.6322 ADAMTS12 0 genome.wustl.edu 37 5 33549454 33549454 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 33549454 33549454 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4160 p.R1387H 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 145 0 0 111 61 35.4651 ADCY2 0 genome.wustl.edu 37 5 7698445 7698445 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 7698445 7698445 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1067 p.K356R 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 304 0 0 252 58 18.7097 GPR98 0 genome.wustl.edu 37 5 90012394 90012394 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 90012394 90012394 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.9295 p.A3099T 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 74 0 0 56 15 21.1268 SYNE1 0 genome.wustl.edu 37 6 152485429 152485429 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 152485429 152485429 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.23659 p.V7887M 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 142 0 0 95 62 39.4904 SYNE1 0 genome.wustl.edu 37 6 152711423 152711423 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 152711423 152711423 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.8169 p.H2723 0.000 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 149 0 0 105 29 21.6418 MDC1 0 genome.wustl.edu 37 6 30675783 30675783 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 30675783 30675783 T C SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.2573 p.D858G 0.586 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 696 0 0 324 198 37.931 ATF6B 0 genome.wustl.edu 37 6 32095981 32095981 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 32095981 32095981 C T SNP ATF6B ENST00000375203 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 35 0 0 25 8 24.2424 CD2AP 0 genome.wustl.edu 37 6 47547178 47547178 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 47547178 47547178 C T SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known missense c.961 p.P321S 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 115 0 0 58 18 23.6842 PKHD1 0 genome.wustl.edu 37 6 51637574 51637574 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 51637574 51637574 T G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8568 p.K2856N 0.608 pfam_G8_domain pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 143 0 0 77 32 29.3578 MLIP 0 genome.wustl.edu 37 6 53989433 53989433 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 53989433 53989433 G C SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.382 p.E128Q 0.949 NULL NULL - no_errors MLIP HGNC ENSG00000146147 209 0 0 125 45 26.4706 EXOC2 0 genome.wustl.edu 37 6 564037 564037 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 564037 564037 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known silent c.1785 p.A595 0.133 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 71 0 0 42 9 17.6471 SNX14 0 genome.wustl.edu 37 6 86238069 86238069 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 6 86238069 86238069 C T SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.1906 p.D636N 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 225 0 0 124 53 29.9435 CPA5 0 genome.wustl.edu 37 7 129999462 129999462 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 7 129999462 129999462 G A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known silent c.366 p.A122 0.000 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 9 0 0 0 6 100 CHN2 0 genome.wustl.edu 37 7 29519880 29519880 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 7 29519880 29519880 T G SNP CHN2 ENST00000409041 human ensembl 74_37 +1 known missense c.154 p.F52V 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 83 0 0 35 23 39.6552 ZNF804B 0 genome.wustl.edu 37 7 88965033 88965033 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 7 88965033 88965033 T G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2737 p.S913A 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 209 0 0 189 61 24.4 COL1A2 0 genome.wustl.edu 37 7 94057073 94057073 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 7 94057073 94057073 A C SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3402 p.E1134D 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 150 0 0 98 90 47.8723 PDAP1 0 genome.wustl.edu 37 7 98994334 98994334 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 7 98994334 98994334 G C SNP PDAP1 ENST00000350498 human ensembl 74_37 -1 known missense c.517 p.R173G 1.000 NULL pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 164 0 0 136 43 24.0223 SOX7 0 genome.wustl.edu 37 8 10583429 10583429 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 10583429 10583429 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.1142 p.R381H 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 93 0 0 48 17 26.1538 SH2D4A 0 genome.wustl.edu 37 8 19192367 19192367 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 19192367 19192367 G A SNP SH2D4A ENST00000265807 human ensembl 74_37 +1 known missense c.512 p.R171Q 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 42 0 0 16 10 38.4615 CSMD1 0 genome.wustl.edu 37 8 3253803 3253803 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 3253803 3253803 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2509 p.F837V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 12 0 0 6 4 40 ARFGEF1 0 genome.wustl.edu 37 8 68165687 68165687 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 68165687 68165687 C A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.2697 p.Q899H 0.997 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 110 0 0 14 38 73.0769 PREX2 0 genome.wustl.edu 37 8 69104587 69104587 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 69104587 69104587 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.4431 p.N1477 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 71 0 0 15 20 57.1429 ZFHX4 0 genome.wustl.edu 37 8 77765163 77765163 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 77765163 77765163 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.6006 p.T2002 0.975 superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 20 0 0 26 93 78.1513 SDC2 0 genome.wustl.edu 37 8 97620628 97620628 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 8 97620628 97620628 C T SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known silent c.372 p.A124 0.570 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 142 1 0.699301 34 64 65.3061 GALNT12 0 genome.wustl.edu 37 9 101589068 101589068 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 101589068 101589068 G A SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known silent c.576 p.S192 0.000 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 GALNT12 HGNC ENSG00000119514 20 0 0 7 5 41.6667 ALDOB 0 genome.wustl.edu 37 9 104187255 104187255 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 104187255 104187255 C A SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.869 p.C290F 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 172 0 0 130 9 6.47482 HSDL2 0 genome.wustl.edu 37 9 115216406 115216406 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 115216406 115216406 A G SNP HSDL2 ENST00000262542 human ensembl 74_37 +1 known missense c.619 p.K207E 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors HSDL2 HGNC ENSG00000119471 267 0 0 85 98 53.5519 TLR4 0 genome.wustl.edu 37 9 120475218 120475218 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 120475218 120475218 A C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.812 p.K271T 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 272 0 0 63 162 72 BNC2 0 genome.wustl.edu 37 9 16437105 16437105 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 16437105 16437105 A T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1087 p.Y363N 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 132 0 0 38 78 67.2414 DENND4C 0 genome.wustl.edu 37 9 19331981 19331981 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 19331981 19331981 A G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.2259 p.I753M 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 69 0 0 55 29 34.5238 UHRF2 0 genome.wustl.edu 37 9 6460623 6460623 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 6460623 6460623 G A SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known missense c.695 p.R232Q 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 220 0 0 61 57 48.3051 MAMDC2 0 genome.wustl.edu 37 9 72746492 72746492 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 72746492 72746492 A G SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.958 p.I320V 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 330 0 0 68 180 72.5806 BCOR 0 genome.wustl.edu 37 X 39932171 39932171 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 X 39932171 39932171 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.2428 p.R810* 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 163 0 0 41 81 66.3934 TRIM51 0 genome.wustl.edu 37 11 55653609 55653610 + Frame_Shift_Ins INS - - A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 55653609 55653610 - A INS TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_ins c.422_423 p.M144fs 0.001:0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 86 0 0 39 23 37.0968 PELI3 0 genome.wustl.edu 37 11 66241318 66241318 + Frame_Shift_Del DEL T T - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 11 66241318 66241318 T - DEL PELI3 ENST00000320740 human ensembl 74_37 +1 known frame_shift_del c.762 p.V255fs 0.994 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 71 0 0 83 42 33.6 ARHGAP27 0 genome.wustl.edu 37 17 43481878 43481878 + Frame_Shift_Del DEL G G - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 17 43481878 43481878 G - DEL ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known frame_shift_del c.1346 p.P449fs 0.991 superfamily_WW_dom pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 85 0 0 109 12 9.91736 TRIOBP 0 genome.wustl.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 22 38119882 38119884 CCT - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known in_frame_del c.1319_1321 p.S442in_frame_del 0.878:0.883:0.927 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 161 0 0 105 6 5.40541 PCDHGA10 0 genome.wustl.edu 37 5 140792993 140792998 + In_Frame_Del DEL GCAGCG GCAGCG - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 GCAGCG GCAGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 5 140792993 140792998 GCAGCG - DEL PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known in_frame_del c.251_256 p.GS86in_frame_del 0.029:0.017:0.462:0.903:0.917:1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 197 0 0 101 15 12.931 OR1L4 0 genome.wustl.edu 37 9 125486451 125486452 + Frame_Shift_Ins INS - - T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 9 125486451 125486452 - T INS OR1L4 ENST00000259466 human ensembl 74_37 +1 known frame_shift_ins c.183_184 p.L63fs 0.983:0.967 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 190 0 0 143 50 25.9067