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 ADAMTS5 0 genome.wustl.edu 37 21 28296629 28296629 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 21 28296629 28296629 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.2536 p.R846C 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 114 0 0.00 75 21 21.88 ADI1 0 genome.wustl.edu 37 2 3502739 3502739 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 3502739 3502739 C T SNP ADI1 ENST00000327435 human ensembl 74_37 -1 known missense c.535 p.A179T 0.011 superfamily_RmlC_Cupin pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin - no_errors ADI1 HGNC ENSG00000182551 tier1 - - 62 0 0.00 50 14 21.88 ADRB3 0 genome.wustl.edu 37 8 37823627 37823627 + Missense_Mutation SNP C C A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 8 37823627 37823627 C A SNP ADRB3 ENST00000345060 human ensembl 74_37 -1 known missense c.361 p.V121L 1.000 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_ADRB3_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB3 HGNC ENSG00000188778 tier1 - - 21 0 0.00 14 7 33.33 AEN 0 genome.wustl.edu 37 15 89172603 89172603 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 15 89172603 89172603 G A SNP AEN ENST00000379231 human ensembl 74_37 +1 known silent c.687 p.R229 0.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 tier1 - - 95 0 0.00 91 7 7.14 ALKBH5 0 genome.wustl.edu 37 17 18088229 18088229 + Silent SNP T T A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 17 18088229 18088229 T A SNP ALKBH5 ENST00000399138 human ensembl 74_37 +1 known silent c.672 p.S224 0.088 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 tier1 - - 45 0 0.00 38 16 29.63 B4GALNT4 0 genome.wustl.edu 37 11 376456 376456 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 376456 376456 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.1333 p.D445N 0.484 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 33 0 0.00 22 19 46.34 BLZF1 0 genome.wustl.edu 37 1 169349824 169349824 + Silent SNP T T C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 169349824 169349824 T C SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known silent c.774 p.R258 0.851 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 tier1 - - 89 0 0.00 73 17 18.89 C10orf68 0 genome.wustl.edu 37 10 33134536 33134536 + Missense_Mutation SNP C C G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 10 33134536 33134536 C G SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1423 p.Q475E 0.001 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 76 0 0.00 56 27 32.53 C16orf93 0 genome.wustl.edu 37 16 30771693 30771693 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 16 30771693 30771693 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known silent c.381 p.A127 0.512 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 tier1 - - 64 0 0.00 48 27 36.00 CAMTA1 0 genome.wustl.edu 37 1 7724185 7724185 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 7724185 7724185 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.1578 p.T526 0.962 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 59 0 0.00 18 24 57.14 CDO1 0 genome.wustl.edu 37 5 115146882 115146882 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 115146882 115146882 C T SNP CDO1 ENST00000250535 human ensembl 74_37 -1 known missense c.379 p.E127K 1.000 pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 tier1 - - 181 0 0.00 74 81 52.26 CGB1 0 genome.wustl.edu 37 19 49539060 49539060 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 49539060 49539060 C T SNP CGB1 ENST00000301407 human ensembl 74_37 -1 known missense c.275 p.R92H 0.976 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC ENSG00000267631 tier1 - - 8 0 0.00 3 10 76.92 CHIAP2 0 genome.wustl.edu 37 1 111824194 111824194 + RNA SNP G G C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 111824194 111824194 G C SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 - - 22 0 0.00 16 13 44.83 CLEC18B 0 genome.wustl.edu 37 16 74452114 74452114 + Missense_Mutation SNP A A G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 16 74452114 74452114 A G SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.299 p.L100P 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 tier1 - - 26 0 0.00 14 4 22.22 COL4A3BP 0 genome.wustl.edu 37 5 74722305 74722306 + Splice_Site INS - - A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 74722305 74722306 - A INS COL4A3BP ENST00000380494 human ensembl 74_37 -1 known splice_site_ins c.733-3_733-2 e5-2 1.000:0.996 - - - no_errors COL4A3BP HGNC ENSG00000113163 tier1 37 0 0.00 32 2 5.88 CSPP1 0 genome.wustl.edu 37 8 67988768 67988768 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 8 67988768 67988768 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.259 p.A87T 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 tier1 - - 53 0 0.00 52 20 27.78 CT47B1 0 genome.wustl.edu 37 X 120008963 120008963 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 X 120008963 120008963 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.562 p.G188S 0.001 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 tier1 - - 92 0 0.00 52 27 34.18 DCHS1 0 genome.wustl.edu 37 11 6647213 6647213 + Missense_Mutation SNP G G T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 6647213 6647213 G T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.6669 p.D2223E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 22 0 0.00 13 8 38.10 DMP1 0 genome.wustl.edu 37 4 88584286 88584286 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 4 88584286 88584286 C T SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known silent c.1356 p.D452 0.006 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 tier1 rs149026481 - 53 0 0.00 11 29 70.73 DPP10 0 genome.wustl.edu 37 2 116447443 116447443 + Missense_Mutation SNP A A C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 116447443 116447443 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.534 p.E178D 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 54 0 0.00 37 27 41.54 EDAR 0 genome.wustl.edu 37 2 109545680 109545680 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 109545680 109545680 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known silent c.330 p.D110 0.818 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 tier1 - - 35 0 0.00 35 18 33.96 EFCAB1 0 genome.wustl.edu 37 8 49647837 49647837 + RNA SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 8 49647837 49647837 C T SNP EFCAB1 ENST00000521721 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 33 0 0.00 15 6 28.57 ENSG00000205790 0 genome.wustl.edu 37 19 4682879 4682880 + RNA DEL AG AG - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 4682879 4682880 AG - DEL ENSG00000205790 ENST00000381796 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 tier1 8 0 0.00 2 3 60.00 ENSG00000232623 0 genome.wustl.edu 37 21 33678898 33678898 + RNA SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 21 33678898 33678898 G A SNP ENSG00000232623 ENST00000450936 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000266.7 Clone_based_vega_gene ENSG00000232623 tier1 - - 22 0 0.00 12 4 25.00 FABP1 0 genome.wustl.edu 37 2 88425812 88425812 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 88425812 88425812 G A SNP FABP1 ENST00000295834 human ensembl 74_37 -1 known silent c.123 p.I41 0.958 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP1 HGNC ENSG00000163586 tier1 - - 348 0 0.00 222 152 40.64 FAM24A 0 genome.wustl.edu 37 10 124672299 124672299 + Silent SNP T T G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 10 124672299 124672299 T G SNP FAM24A ENST00000368894 human ensembl 74_37 +1 known silent c.147 p.A49 0.000 NULL NULL - no_errors FAM24A HGNC ENSG00000203795 tier1 - - 100 0 0.00 88 21 19.27 FAT2 0 genome.wustl.edu 37 5 150901275 150901275 + Missense_Mutation SNP G G T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 150901275 150901275 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10879 p.L3627M 0.945 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 39 0 0.00 44 12 21.43 FSTL4 0 genome.wustl.edu 37 5 132560842 132560842 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 132560842 132560842 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.1312 p.L438F 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 45 0 0.00 42 15 26.32 GABRE 0 genome.wustl.edu 37 X 151124295 151124295 + Missense_Mutation SNP G G T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 X 151124295 151124295 G T SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.822 p.S274R 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 tier1 - - 124 0 0.00 103 55 34.81 GFPT2 0 genome.wustl.edu 37 5 179751274 179751274 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 179751274 179751274 C T SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.708 p.K236 0.029 NULL pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 48 0 0.00 23 16 41.03 GPR112 0 genome.wustl.edu 37 X 135428768 135428768 + Missense_Mutation SNP C C G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 X 135428768 135428768 C G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.2903 p.A968G 0.011 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 191 0 0.00 200 33 14.16 HIST1H3I 0 genome.wustl.edu 37 6 27840030 27840030 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 6 27840030 27840030 C T SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known missense c.64 p.A22T 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 tier1 - - 78 0 0.00 54 10 15.62 HKR1 0 genome.wustl.edu 37 19 37854085 37854085 + Missense_Mutation SNP A A G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 37854085 37854085 A G SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1388 p.H463R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors HKR1 HGNC ENSG00000181666 tier1 - - 65 0 0.00 39 60 60.61 HSPH1 0 genome.wustl.edu 37 13 31722526 31722526 + Nonsense_Mutation SNP G G C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 13 31722526 31722526 G C SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known nonsense c.1235 p.S412* 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 133 0 0.00 133 17 11.33 HTR5A 0 genome.wustl.edu 37 7 154875950 154875950 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 7 154875950 154875950 G A SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.827 p.R276Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 tier1 - - 41 0 0.00 30 20 40.00 ITPR2 0 genome.wustl.edu 37 12 26864160 26864160 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 26864160 26864160 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.897 p.W299* 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd 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 - - 53 0 0.00 38 27 41.54 KDELR2 0 genome.wustl.edu 37 7 6523688 6523689 + In_Frame_Ins INS - - GGC TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 7 6523688 6523689 - GGC INS KDELR2 ENST00000258739 human ensembl 74_37 -1 known in_frame_ins c.1_2 p.0in_frame_insA 1.000:1.000 NULL pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR2 HGNC ENSG00000136240 tier1 9 0 0.00 16 5 23.81 KRTAP19-3 0 genome.wustl.edu 37 21 31864221 31864221 + Missense_Mutation SNP C C G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 21 31864221 31864221 C G SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.55 p.G19R 0.012 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 tier1 - - 182 0 0.00 119 34 22.22 MAP1B 0 genome.wustl.edu 37 5 71492637 71492637 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 71492637 71492637 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.3455 p.T1152M 0.949 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 52 0 0.00 39 10 20.41 MAP2K7 0 genome.wustl.edu 37 19 7976138 7976138 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 7976138 7976138 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.985 p.E329K 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 MAP2K7 HGNC ENSG00000076984 tier1 - - 45 0 0.00 14 20 58.82 METTL13 0 genome.wustl.edu 37 1 171753018 171753018 + Missense_Mutation SNP A A G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 171753018 171753018 A G SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.292 p.M98V 0.995 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 57 0 0.00 69 34 33.01 METTL24 0 genome.wustl.edu 37 6 110620291 110620291 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 6 110620291 110620291 C T SNP METTL24 ENST00000338882 human ensembl 74_37 -1 known missense c.620 p.R207H 1.000 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 tier1 - - 114 0 0.00 91 5 5.21 MUC16 0 genome.wustl.edu 37 19 9067374 9067374 + Missense_Mutation SNP G G T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 9067374 9067374 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20072 p.T6691K 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 163 0 0.00 34 65 65.66 NADK 0 genome.wustl.edu 37 1 1684347 1684348 + In_Frame_Ins INS - - CCT TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 1684347 1684348 - CCT INS NADK ENST00000344463 human ensembl 74_37 -1 known in_frame_ins c.1772_1771 p.591in_frame_insE 0.814:0.794 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 tier1 10 0 0.00 15 8 34.78 NCOA6 0 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 20 33345744 33345744 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.807 p.Q269 0.002 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 35 0 0.00 55 6 9.84 NOX1 0 genome.wustl.edu 37 X 100104298 100104298 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 X 100104298 100104298 G A SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.1414 p.L472F 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 tier1 - - 71 0 0.00 49 29 37.18 NRG1 0 genome.wustl.edu 37 8 32599536 32599536 + Nonsense_Mutation SNP G G T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 8 32599536 32599536 G T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known nonsense c.643 p.G215* 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 54 0 0.00 59 15 20.27 OBSL1 0 genome.wustl.edu 37 2 220420907 220420907 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 220420907 220420907 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4444 p.R1482C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 18 0 0.00 15 9 37.50 OR13C4 0 genome.wustl.edu 37 9 107288743 107288743 + Missense_Mutation SNP T T A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 9 107288743 107288743 T A SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.748 p.I250L 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 tier1 - - 84 0 0.00 55 25 31.25 OR52A5 0 genome.wustl.edu 37 11 5153859 5153859 + Missense_Mutation SNP T T G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 5153859 5153859 T G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.14 p.N5T 0.974 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 tier1 - - 39 0 0.00 36 9 20.00 OR6C4 0 genome.wustl.edu 37 12 55945712 55945712 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 55945712 55945712 G A SNP OR6C4 ENST00000394256 human ensembl 74_37 +1 known silent c.702 p.K234 0.827 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C4 HGNC ENSG00000179626 tier1 - - 103 0 0.00 60 42 41.18 OR6K2 0 genome.wustl.edu 37 1 158669693 158669693 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 158669693 158669693 C T SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known silent c.750 p.S250 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 tier1 - - 36 0 0.00 27 14 33.33 PAK7 0 genome.wustl.edu 37 20 9560913 9560913 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 20 9560913 9560913 G A SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.869 p.S290L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 134 0 0.00 109 48 30.57 PHLDA2 0 genome.wustl.edu 37 11 2950237 2950238 + Frame_Shift_Ins INS - - G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 2950237 2950238 - G INS PHLDA2 ENST00000314222 human ensembl 74_37 -1 known frame_shift_ins c.358_357 p.A119fs 0.993:0.970 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology - no_errors PHLDA2 HGNC ENSG00000181649 tier1 10 0 0.00 3 2 40.00 PHLPP1 0 genome.wustl.edu 37 18 60639816 60639816 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 18 60639816 60639816 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.3630 p.D1210 0.994 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 50 0 0.00 34 20 37.04 PRSS23 0 genome.wustl.edu 37 11 86518708 86518708 + Missense_Mutation SNP T T A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 86518708 86518708 T A SNP PRSS23 ENST00000280258 human ensembl 74_37 +1 known missense c.23 p.L8H 0.869 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS23 HGNC ENSG00000150687 tier1 - - 145 0 0.00 61 64 51.20 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 30 0 0.00 39 4 9.30 RAB3GAP2 0 genome.wustl.edu 37 1 220364485 220364485 + Missense_Mutation SNP C C A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 220364485 220364485 C A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.1412 p.R471I 0.990 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 124 0 0.00 94 60 38.96 RBM6 0 genome.wustl.edu 37 3 50004794 50004794 + RNA DEL A A - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 3 50004794 50004794 A - DEL RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RBM6 HGNC ENSG00000004534 tier1 17 0 0.00 15 4 21.05 RHBDD2 0 genome.wustl.edu 37 7 75517750 75517750 + RNA DEL C C - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 7 75517750 75517750 C - DEL RHBDD2 ENST00000468304 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors RHBDD2 HGNC ENSG00000005486 tier1 24 0 0.00 26 16 38.10 RHEB 0 genome.wustl.edu 37 7 151164206 151164206 + Nonstop_Mutation SNP C C A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 7 151164206 151164206 C A SNP RHEB ENST00000262187 human ensembl 74_37 -1 known nonstop c.554 p.*185L 0.964 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEB HGNC ENSG00000106615 tier1 - - 32 0 0.00 31 15 32.61 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 tier1 15 0 0.00 17 5 22.73 RNF10 0 genome.wustl.edu 37 12 120990361 120990361 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 120990361 120990361 C T SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known silent c.414 p.I138 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 tier1 - - 72 0 0.00 43 39 47.56 RPL24 0 genome.wustl.edu 37 3 101404703 101404703 + Missense_Mutation SNP A A G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 3 101404703 101404703 A G SNP RPL24 ENST00000394077 human ensembl 74_37 -1 known missense c.151 p.W51R 1.000 pfam_Ribosomal_L24e_rel pfam_Ribosomal_L24e_rel,smart_TRASH_dom - no_errors RPL24 HGNC ENSG00000114391 tier1 - - 105 0 0.00 125 25 16.67 RREB1 0 genome.wustl.edu 37 6 7211150 7211151 + Frame_Shift_Ins INS - - A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 6 7211150 7211151 - A INS RREB1 ENST00000379938 human ensembl 74_37 +1 known frame_shift_ins c.539_540 p.E181fs 0.991:0.878 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 137 0 0.00 80 43 34.96 RYR2 0 genome.wustl.edu 37 1 237993765 237993765 + RNA SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 237993765 237993765 G A SNP RYR2 ENST00000462585 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 39 0 0.00 20 11 35.48 SALL3 0 genome.wustl.edu 37 18 76757283 76757283 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 18 76757283 76757283 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.3864 p.T1288 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 175 0 0.00 153 82 34.89 SH2B3 0 genome.wustl.edu 37 12 111885301 111885301 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 111885301 111885301 C T SNP SH2B3 ENST00000341259 human ensembl 74_37 +1 putative missense c.1189 p.R397W 0.982 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 tier1 - - 93 0 0.00 59 32 35.16 SLC11A1 0 genome.wustl.edu 37 2 219259676 219259676 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 219259676 219259676 C T SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.1571 p.A524V 0.904 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 - - 21 0 0.00 20 7 25.93 SLC25A41 0 genome.wustl.edu 37 19 6429824 6429825 + Frame_Shift_Del DEL CA CA - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 6429824 6429825 CA - DEL SLC25A41 ENST00000321510 human ensembl 74_37 -1 known frame_shift_del c.535_534 p.C178fs 0.000:0.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 32 0 0.00 8 2 20.00 SLC4A1AP 0 genome.wustl.edu 37 2 27892203 27892203 + Silent SNP T T C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 27892203 27892203 T C SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known silent c.1294 p.L432 0.993 pfam_dsRNA-bd_dom pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 tier1 - - 181 0 0.00 153 76 33.19 SLCO1A2 0 genome.wustl.edu 37 12 21448672 21448672 + Missense_Mutation SNP A A G TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 21448672 21448672 A G SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1130 p.M377T 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 64 0 0.00 47 39 45.35 SLCO1C1 0 genome.wustl.edu 37 12 20905256 20905256 + Missense_Mutation SNP C C A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 20905256 20905256 C A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.2036 p.T679N 0.999 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 35 0 0.00 46 20 30.30 SORCS3 0 genome.wustl.edu 37 10 106937891 106937891 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 10 106937891 106937891 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1969 p.G657R 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 44 0 0.00 16 23 58.97 SPINK5 0 genome.wustl.edu 37 5 147449998 147449998 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 147449998 147449998 C T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.194 p.T65M 0.000 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 102 0 0.00 43 32 42.67 SPRY4 0 genome.wustl.edu 37 5 141694310 141694310 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 5 141694310 141694310 C T SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.433 p.D145N 0.999 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 tier1 - - 60 0 0.00 66 20 23.26 SPTBN2 0 genome.wustl.edu 37 11 66460884 66460884 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 66460884 66460884 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.4627 p.R1543W 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 28 0 0.00 26 6 18.75 ST3GAL2 0 genome.wustl.edu 37 16 70422404 70422404 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 16 70422404 70422404 G A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known silent c.579 p.S193 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 tier1 - - 95 0 0.00 80 11 11.96 SYNE1 0 genome.wustl.edu 37 6 152671759 152671759 + Missense_Mutation SNP T T C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 6 152671759 152671759 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11727 p.I3909M 0.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 100 0 0.00 76 19 20.00 TIMM8B 0 genome.wustl.edu 37 11 111956156 111956156 + Missense_Mutation SNP T T C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 11 111956156 111956156 T C SNP TIMM8B ENST00000541231 human ensembl 74_37 -1 known missense c.160 p.K54E 1.000 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM8B HGNC ENSG00000150779 tier1 - - 36 0 0.00 21 21 50.00 TMPRSS15 0 genome.wustl.edu 37 21 19666654 19666654 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 21 19666654 19666654 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known nonsense c.2419 p.R807* 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 97 0 0.00 84 22 20.75 TNS1 0 genome.wustl.edu 37 2 218678007 218678007 + Missense_Mutation SNP T T C TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 2 218678007 218678007 T C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4573 p.R1525G 0.997 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 12 0 0.00 16 4 20.00 USP30-AS1 0 genome.wustl.edu 37 12 109490427 109490429 + RNA DEL CGG CGG - TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 12 109490427 109490429 CGG - DEL USP30-AS1 ENST00000478808 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors USP30-AS1 HGNC ENSG00000256262 tier1 8 0 0.00 5 2 28.57 VSIG8 0 genome.wustl.edu 37 1 159827562 159827562 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 1 159827562 159827562 C T SNP VSIG8 ENST00000368100 human ensembl 74_37 -1 known missense c.625 p.E209K 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG8 HGNC ENSG00000243284 tier1 - - 49 0 0.00 33 9 21.43 VTI1B 0 genome.wustl.edu 37 14 68123303 68123303 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 14 68123303 68123303 G A SNP VTI1B ENST00000554659 human ensembl 74_37 -1 known missense c.370 p.R124W 0.999 NULL pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1B HGNC ENSG00000100568 tier1 - - 104 0 0.00 88 46 34.33 WDR7 0 genome.wustl.edu 37 18 54385288 54385288 + Missense_Mutation SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 18 54385288 54385288 C T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.1672 p.R558C 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 104 0 0.00 21 43 67.19 XYLT2 0 genome.wustl.edu 37 17 48433886 48433886 + Silent SNP C C T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 17 48433886 48433886 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known silent c.1497 p.P499 0.858 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 75 0 0.00 53 22 29.33 ZNF182 0 genome.wustl.edu 37 X 47835938 47835938 + Nonsense_Mutation SNP A A T TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 X 47835938 47835938 A T SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known nonsense c.1548 p.C516* 0.758 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 ZNF182 HGNC ENSG00000147118 tier1 - - 61 0 0.00 83 10 10.75 ZNF23 0 genome.wustl.edu 37 16 71483580 71483580 + Silent SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 16 71483580 71483580 G A SNP ZNF23 ENST00000357254 human ensembl 74_37 -1 known silent c.348 p.P116 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 tier1 - - 165 0 0.00 130 48 26.97 ZNF296 0 genome.wustl.edu 37 19 45575385 45575385 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 19 45575385 45575385 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.902 p.A301V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 tier1 rs142135795 - 58 0 0.00 102 12 10.53 ZNF517 0 genome.wustl.edu 37 8 146033091 146033091 + Missense_Mutation SNP G G A TCGA-R5-A7ZR-01A-11D-A34U-08 TCGA-R5-A7ZR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6a86aef-1ede-46b8-b2f3-5a552c2c3aaa 565ff634-9730-4c9c-94a6-7ef96887e4f3 8 146033091 146033091 G A SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.790 p.G264S 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 ZNF517 HGNC ENSG00000197363 tier1 rs147246151 - 22 0 0.00 30 5 14.29