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 ADTRP 0 genome.wustl.edu 37 6 11778855 11778856 + Frame_Shift_Ins INS - - AT TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 11778855 11778856 - AT INS ADTRP ENST00000379413 human ensembl 74_37 -1 known frame_shift_ins c.138_137 p.M46fs 1.000:1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 tier1 138 0 0.00 123 87 41.43 AKR7A3 0 genome.wustl.edu 37 1 19610505 19610505 + Silent SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 19610505 19610505 G A SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known silent c.819 p.H273 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 55 0 0.00 38 4 9.52 ANK3 0 genome.wustl.edu 37 10 61941167 61941167 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 10 61941167 61941167 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2104 p.H702Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 108 0 0.00 69 46 40.00 APC 0 genome.wustl.edu 37 5 112173895 112173895 + Missense_Mutation SNP A A C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 5 112173895 112173895 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2604 p.E868D 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 46 0 0.00 26 15 36.59 ASIC5 0 genome.wustl.edu 37 4 156763416 156763416 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 156763416 156763416 C - DEL ASIC5 ENST00000537611 human ensembl 74_37 -1 known frame_shift_del c.952 p.E318fs 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 96 0 0.00 73 22 23.16 ASIC5 0 genome.wustl.edu 37 4 156763420 156763420 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 156763420 156763420 C T SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known silent c.948 p.L316 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 97 0 0.00 66 25 27.17 ATAD5 0 genome.wustl.edu 37 17 29161886 29161886 + Missense_Mutation SNP A A C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 29161886 29161886 A C SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.787 p.I263L 0.004 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 - - 78 0 0.00 69 24 25.81 ATG2B 0 genome.wustl.edu 37 14 96788613 96788614 + RNA INS - - A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 14 96788613 96788614 - A INS ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG2B HGNC ENSG00000066739 tier1 63 0 0.00 68 15 18.07 BROX 0 genome.wustl.edu 37 1 222892658 222892658 + Missense_Mutation SNP C C G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 222892658 222892658 C G SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.262 p.Q88E 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 tier1 - - 171 0 0.00 174 43 19.72 CCKAR 0 genome.wustl.edu 37 4 26483328 26483328 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 26483328 26483328 C T SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.1219 p.G407R 0.735 prints_Cholcy_rcpt_A pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 tier1 - - 113 0 0.00 44 53 54.64 CFH 0 genome.wustl.edu 37 1 196642371 196642371 + RNA SNP G G C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 196642371 196642371 G C SNP CFH ENST00000496761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CFH HGNC ENSG00000000971 tier1 - - 22 0 0.00 14 8 36.36 CHMP4B 0 genome.wustl.edu 37 20 32439897 32439897 + Silent SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 20 32439897 32439897 G A SNP CHMP4B ENST00000217402 human ensembl 74_37 +1 known silent c.498 p.A166 0.141 pfam_Snf7 pfam_Snf7 - no_errors CHMP4B HGNC ENSG00000101421 tier1 - - 125 0 0.00 239 13 5.16 CSF3 0 genome.wustl.edu 37 17 38173107 38173107 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 38173107 38173107 C T SNP CSF3 ENST00000225474 human ensembl 74_37 +1 known silent c.519 p.F173 0.972 pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF - no_errors CSF3 HGNC ENSG00000108342 tier1 - - 50 0 0.00 47 22 31.88 DCT 0 genome.wustl.edu 37 13 95131277 95131277 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 13 95131277 95131277 C T SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.233 p.R78Q 0.941 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 85 0 0.00 117 22 15.83 DHX58 0 genome.wustl.edu 37 17 40256929 40256929 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 40256929 40256929 C A SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1418 p.R473L 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 tier1 - - 80 0 0.00 91 25 21.55 DIDO1 0 genome.wustl.edu 37 20 61512325 61512325 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 20 61512325 61512325 G - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.4983 p.T1662fs 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 19 0 0.00 45 7 13.46 DNAH10 0 genome.wustl.edu 37 12 124416344 124416344 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 124416344 124416344 T - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.12724 p.F4242fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 143 0 0.00 83 30 26.55 DNAH10 0 genome.wustl.edu 37 12 124416345 124416345 + Missense_Mutation SNP T T G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 124416345 124416345 T G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12725 p.F4242C 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 144 0 0.00 81 31 27.43 DNAH10 0 genome.wustl.edu 37 12 124416346 124416346 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 124416346 124416346 C A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12726 p.F4242L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 146 0 0.00 81 31 27.68 DUSP26 0 genome.wustl.edu 37 8 33449695 33449695 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 8 33449695 33449695 G A SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known nonsense c.472 p.R158* 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 tier1 - - 20 0 0.00 11 18 62.07 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117670 117670 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 GL000205.1 117670 117670 G A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.301 p.V101M NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 19 0 0.00 12 6 33.33 ENSG00000219492 0 genome.wustl.edu 37 4 9387468 9387468 + Splice_Site SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 9387468 9387468 T C SNP ENSG00000219492 ENST00000508324 human ensembl 74_37 -1 novel splice_site c.236-2 e4-2 0.988 - - - no_errors RP11-1396O13.13 Clone_based_vega_gene ENSG00000219492 tier1 - - 117 0 0.00 66 36 35.29 ESPNP 0 genome.wustl.edu 37 1 17017747 17017747 + RNA SNP A A G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 17017747 17017747 A G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 rs201754604 - 12 0 0.00 12 6 33.33 ETNK2 0 genome.wustl.edu 37 1 204110561 204110561 + Silent SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 204110561 204110561 T C SNP ETNK2 ENST00000367201 human ensembl 74_37 -1 known silent c.666 p.V222 0.985 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 14 0 0.00 8 2 20.00 FAM135A 0 genome.wustl.edu 37 6 71235702 71235702 + Missense_Mutation SNP T T G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 71235702 71235702 T G SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.2915 p.I972S 0.007 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 54 0 0.00 45 15 25.00 FCHO1 0 genome.wustl.edu 37 19 17883350 17883350 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 19 17883350 17883350 G A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.679 p.V227M 0.987 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 47 0 0.00 32 17 34.69 GABPB2 0 genome.wustl.edu 37 1 151089909 151089909 + Missense_Mutation SNP A A G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 151089909 151089909 A G SNP GABPB2 ENST00000368918 human ensembl 74_37 +1 known missense c.964 p.I322V 0.991 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC ENSG00000143458 tier1 - - 98 0 0.00 84 38 30.89 GHITM 0 genome.wustl.edu 37 10 85912061 85912061 + Missense_Mutation SNP G G T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 10 85912061 85912061 G T SNP GHITM ENST00000372134 human ensembl 74_37 +1 known missense c.995 p.R332L 0.971 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 tier1 - - 96 0 0.00 130 26 16.67 GON4L 0 genome.wustl.edu 37 1 155785765 155785765 + RNA SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 155785765 155785765 G A SNP GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 - - 19 0 0.00 15 9 37.50 GSTA3 0 genome.wustl.edu 37 6 52762688 52762688 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 52762688 52762688 C T SNP GSTA3 ENST00000211122 human ensembl 74_37 -1 known missense c.481 p.V161M 0.998 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC ENSG00000174156 tier1 - - 137 0 0.00 77 50 39.37 HP1BP3 0 genome.wustl.edu 37 1 21071398 21071398 + Silent SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 21071398 21071398 T C SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known silent c.1554 p.K518 0.998 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 tier1 - - 101 0 0.00 26 66 71.74 INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 tier1 18 0 0.00 14 3 17.65 KATNB1 0 genome.wustl.edu 37 16 57787859 57787860 + In_Frame_Ins INS - - GGA TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 16 57787859 57787860 - GGA INS KATNB1 ENST00000379661 human ensembl 74_37 +1 known in_frame_ins c.1180_1181 p.395in_frame_insR 1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 tier1 41 0 0.00 41 6 12.77 KCNH7 0 genome.wustl.edu 37 2 163250983 163250983 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 2 163250983 163250983 G A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known nonsense c.2626 p.R876* 0.999 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 81 0 0.00 57 29 33.72 KIF26A 0 genome.wustl.edu 37 14 104641875 104641875 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 14 104641875 104641875 C A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2750 p.A917D 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 23 0 0.00 4 17 80.95 KLHL10 0 genome.wustl.edu 37 17 40001938 40001938 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 40001938 40001938 C T SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known silent c.1245 p.L415 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 tier1 - - 76 0 0.00 80 37 31.62 KLHL13 0 genome.wustl.edu 37 X 117043384 117043384 + Missense_Mutation SNP G G C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 X 117043384 117043384 G C SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.1255 p.P419A 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 tier1 - - 59 0 0.00 21 30 58.82 KRT35 0 genome.wustl.edu 37 17 39633456 39633456 + Splice_Site SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 39633456 39633456 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known splice_site c.1221-1 e7-1 1.000 - - - no_errors KRT35 HGNC ENSG00000197079 tier1 - - 37 0 0.00 70 13 15.66 LGALS3 0 genome.wustl.edu 37 14 55611931 55611931 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 14 55611931 55611931 G A SNP LGALS3 ENST00000254301 human ensembl 74_37 +1 known missense c.695 p.S232N 0.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS3 HGNC ENSG00000131981 tier1 - - 143 0 0.00 74 20 21.28 MAEA 0 genome.wustl.edu 37 4 1330744 1330744 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 1330744 1330744 C T SNP MAEA ENST00000514708 human ensembl 74_37 +1 known missense c.661 p.P221S 0.071 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors MAEA HGNC ENSG00000090316 tier1 - - 53 0 0.00 27 16 37.21 MEGF8 0 genome.wustl.edu 37 19 42859910 42859910 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 19 42859910 42859910 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.4145 p.G1382E 1.000 superfamily_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 16 0 0.00 18 9 33.33 MFN1 0 genome.wustl.edu 37 3 179096574 179096574 + Missense_Mutation SNP T T G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 3 179096574 179096574 T G SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.1634 p.L545R 0.991 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 83 0 0.00 44 19 30.16 MICALCL 0 genome.wustl.edu 37 11 12315438 12315438 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 12315438 12315438 C T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.460 p.R154W 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 36 0 0.00 40 5 11.11 MICB 0 genome.wustl.edu 37 6 31474930 31474930 + Missense_Mutation SNP A A G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 31474930 31474930 A G SNP MICB ENST00000252229 human ensembl 74_37 +1 known missense c.745 p.N249D 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICB HGNC ENSG00000204516 55 0 0.00 36 4 10.00 MSR1 0 genome.wustl.edu 37 8 16032694 16032694 + Splice_Site SNP A A T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 8 16032694 16032694 A T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known splice_site c.217+2 e2+2 0.999 - - - no_errors MSR1 HGNC ENSG00000038945 tier1 - - 42 0 0.00 35 21 34.43 MUC6 0 genome.wustl.edu 37 11 1016693 1016693 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 1016693 1016693 G - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6108 p.S2037fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 727 0 0.00 516 79 13.28 MYH9 0 genome.wustl.edu 37 22 36722677 36722677 + Missense_Mutation SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 22 36722677 36722677 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.548 p.N183S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 102 0 0.00 28 77 73.33 MYO16 0 genome.wustl.edu 37 13 109817294 109817294 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 13 109817294 109817294 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.5144 p.T1715M 0.085 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 71 0 0.00 56 22 28.21 NAT10 0 genome.wustl.edu 37 11 34167777 34167777 + RNA SNP A A C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 34167777 34167777 A C SNP NAT10 ENST00000532555 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors NAT10 HGNC ENSG00000135372 tier1 - - 8 0 0.00 5 7 58.33 NPAP1 0 genome.wustl.edu 37 15 24923485 24923485 + Missense_Mutation SNP A A T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 15 24923485 24923485 A T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2471 p.D824V 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 102 0 0.00 53 35 39.77 NUP155 0 genome.wustl.edu 37 5 37342666 37342666 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 5 37342666 37342666 C A SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.1078 p.A360S 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 tier1 - - 104 0 0.00 121 17 12.32 ODF3L1 0 genome.wustl.edu 37 15 76019496 76019496 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 15 76019496 76019496 G A SNP ODF3L1 ENST00000332145 human ensembl 74_37 +1 known missense c.440 p.R147H 0.463 NULL pfam_SHIPPO-rpt - no_errors ODF3L1 HGNC ENSG00000182950 tier1 - - 174 0 0.00 91 54 37.24 OR51I2 0 genome.wustl.edu 37 11 5475196 5475196 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 5475196 5475196 C T SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.478 p.P160S 0.989 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 tier1 - - 106 0 0.00 77 37 32.46 PCDH15 0 genome.wustl.edu 37 10 55826606 55826606 + Missense_Mutation SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 10 55826606 55826606 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2131 p.N711D 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 77 0 0.00 29 65 69.15 PFKL 0 genome.wustl.edu 37 21 45741682 45741682 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 21 45741682 45741682 C T SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1403 p.A468V 0.994 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 83 0 0.00 43 16 27.12 PNPLA2 0 genome.wustl.edu 37 11 822474 822474 + Silent SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 822474 822474 G A SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known silent c.564 p.S188 0.379 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 tier1 rs149864883 - 92 0 0.00 26 73 73.74 PRICKLE4 0 genome.wustl.edu 37 6 41754858 41754858 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 41754858 41754858 C T SNP PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known silent c.1146 p.T382 0.002 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 tier1 - - 51 0 0.00 47 14 22.95 PRKAB1 0 genome.wustl.edu 37 12 120118101 120118101 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 120118101 120118101 G A SNP PRKAB1 ENST00000229328 human ensembl 74_37 +1 known missense c.784 p.V262I 1.000 pfam_AMP_prot_kin_bsu_interact-dom pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 36 0 0.00 31 4 11.43 RBFOX1 0 genome.wustl.edu 37 16 7645562 7645562 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 16 7645562 7645562 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known silent c.609 p.F203 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 tier1 - - 132 0 0.00 39 50 56.18 SCAMP3 0 genome.wustl.edu 37 1 155231371 155231371 + RNA SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 155231371 155231371 T C SNP SCAMP3 ENST00000480219 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SCAMP3 HGNC ENSG00000116521 tier1 - - 43 0 0.00 36 30 45.45 SDHA 0 genome.wustl.edu 37 5 231001 231001 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 5 231001 231001 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.781 p.R261C 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 rs143484394 - 71 0 0.00 47 16 25.40 SLC26A4 0 genome.wustl.edu 37 7 107329564 107329564 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 7 107329564 107329564 C T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.1068 p.I356 0.363 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 164 0 0.00 68 94 58.02 SMG7 0 genome.wustl.edu 37 1 183518368 183518368 + Missense_Mutation SNP A A T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 183518368 183518368 A T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.2780 p.E927V 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 93 0 0.00 90 39 30.23 SNX25 0 genome.wustl.edu 37 4 186260653 186260653 + Missense_Mutation SNP A A C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 4 186260653 186260653 A C SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.1543 p.T515P 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,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 SNX25 HGNC ENSG00000109762 tier1 - - 103 0 0.00 59 9 13.24 SPEN 0 genome.wustl.edu 37 1 16255132 16255132 + Silent SNP G G T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 16255132 16255132 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.2397 p.P799 0.003 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 104 0 0.00 32 56 63.64 SYNE1 0 genome.wustl.edu 37 6 152653008 152653008 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 152653008 152653008 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12812 p.T4271I 0.998 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 tier1 - - 89 0 0.00 83 28 25.23 TAS2R46 0 genome.wustl.edu 37 12 11214002 11214002 + Missense_Mutation SNP T T A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 11214002 11214002 T A SNP TAS2R46 ENST00000533467 human ensembl 74_37 -1 known missense c.892 p.R298W 0.024 NULL pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 tier1 - - 165 0 0.00 187 64 25.40 TIE1 0 genome.wustl.edu 37 1 43773119 43773119 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 43773119 43773119 T - DEL TIE1 ENST00000372476 human ensembl 74_37 +1 known frame_shift_del c.789 p.F264fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 56 0 0.00 32 2 5.88 TMEM132D 0 genome.wustl.edu 37 12 129559292 129559292 + Silent SNP T T G TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 129559292 129559292 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.2428 p.R810 0.009 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 128 0 0.00 72 46 38.98 TMEM184A 0 genome.wustl.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 7 1586653 1586654 - GCC INS TMEM184A ENST00000297477 human ensembl 74_37 -1 known in_frame_ins c.1177_1176 p.392in_frame_insG 0.000:0.000 NULL pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 tier1 15 0 0.00 6 7 53.85 TNNT3 0 genome.wustl.edu 37 11 1959711 1959711 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 1959711 1959711 C T SNP TNNT3 ENST00000397301 human ensembl 74_37 +1 known missense c.799 p.R267C 1.000 NULL pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 tier1 - - 49 0 0.00 46 11 18.97 TP53 0 genome.wustl.edu 37 17 7578542 7578543 + Frame_Shift_Ins INS - - GGCA TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 17 7578542 7578543 - GGCA INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.388_387 p.L129fs 0.985:0.023 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 46 0 0.00 21 12 36.36 TRIM49 0 genome.wustl.edu 37 11 89531764 89531764 + Missense_Mutation SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 89531764 89531764 T C SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.893 p.N298S 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 rs201172121 - 55 0 0.00 52 7 11.86 TRIM51HP 0 genome.wustl.edu 37 11 55065031 55065032 + RNA INS - - T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 55065031 55065032 - T INS TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.009:0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 tier1 50 0 0.00 35 24 40.68 TTF2 0 genome.wustl.edu 37 1 117635369 117635369 + Missense_Mutation SNP A A C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 117635369 117635369 A C SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2822 p.E941A 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 tier1 - - 109 0 0.00 39 63 61.76 ULK1 0 genome.wustl.edu 37 12 132393746 132393746 + Silent SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 12 132393746 132393746 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.630 p.I210 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 15 0 0.00 13 5 27.78 UQCRC1 0 genome.wustl.edu 37 3 48646596 48646596 + Missense_Mutation SNP G G T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 3 48646596 48646596 G T SNP UQCRC1 ENST00000203407 human ensembl 74_37 -1 known missense c.209 p.T70K 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC1 HGNC ENSG00000010256 tier1 - - 41 0 0.00 29 17 36.96 VPS13B 0 genome.wustl.edu 37 8 100589861 100589861 + Missense_Mutation SNP G G T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 8 100589861 100589861 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.5295 p.E1765D 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 98 0 0.00 147 15 9.26 VPS13D 0 genome.wustl.edu 37 1 12476830 12476830 + Missense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 1 12476830 12476830 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.12283 p.G4095R 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 rs139271621 - 118 0 0.00 30 64 68.09 WDR27 0 genome.wustl.edu 37 6 170047920 170047920 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 170047920 170047920 G - DEL WDR27 ENST00000448612 human ensembl 74_37 -1 known frame_shift_del c.1606 p.Q536fs 0.015 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 tier1 19 0 0.00 16 3 15.79 XIST 0 genome.wustl.edu 37 X 73071871 73071871 + RNA SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 X 73071871 73071871 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 13 0 0.00 3 6 66.67 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 11 0 0.00 7 2 22.22 ZBTB25 0 genome.wustl.edu 37 14 64916277 64916277 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 14 64916277 64916277 G A SNP ZBTB25 ENST00000555220 human ensembl 74_37 -1 putative nonsense c.253 p.Q85* 1.000 pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like - no_errors ZBTB25 HGNC ENSG00000089775 tier1 - - 64 0 0.00 36 35 49.30 ZFP64 0 genome.wustl.edu 37 20 50705026 50705026 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 20 50705026 50705026 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1133 p.R378Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 124 0 0.00 210 15 6.67 ZIM2 0 genome.wustl.edu 37 19 57293441 57293441 + Missense_Mutation SNP C C T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 19 57293441 57293441 C T SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.526 p.V176M 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 - - 136 0 0.00 121 63 34.24 ZKSCAN3 0 genome.wustl.edu 37 6 28329219 28329219 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 6 28329219 28329219 C A SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.521 p.S174Y 0.873 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 115 0 0.00 50 39 43.82 ZNF254 0 genome.wustl.edu 37 19 24309871 24309871 + Nonsense_Mutation SNP A A T TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 19 24309871 24309871 A T SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known nonsense c.1069 p.K357* 0.987 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 ZNF254 HGNC ENSG00000213096 tier1 - - 91 0 0.00 84 29 25.66 ZNF667 0 genome.wustl.edu 37 19 56953192 56953192 + Missense_Mutation SNP C C A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 19 56953192 56953192 C A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1556 p.C519F 1.000 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 ZNF667 HGNC ENSG00000198046 tier1 - - 100 0 0.00 127 35 21.60 ZNF786 0 genome.wustl.edu 37 7 148769032 148769032 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 7 148769032 148769032 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known nonsense c.832 p.R278* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 tier1 - - 44 0 0.00 34 12 26.09 ZNFX1 0 genome.wustl.edu 37 20 47881399 47881399 + Missense_Mutation SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 20 47881399 47881399 T C SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.2005 p.I669V 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 130 0 0.00 204 31 13.19 ZP1 0 genome.wustl.edu 37 11 60637112 60637112 + Missense_Mutation SNP T T C TCGA-VQ-A8DV-01A-12D-A364-08 TCGA-VQ-A8DV-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402e4bff-4478-4d0d-81f3-ca52ff84ce1c 5c796bf6-d138-40c4-9607-5f58e1899663 11 60637112 60637112 T C SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.421 p.S141P 0.000 NULL pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 tier1 - - 41 0 0.00 14 8 36.36