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 ADAM12 0 genome.wustl.edu 37 10 127737976 127737976 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 127737976 127737976 C T SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.1772 p.R591Q 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 43 0 0.00 29 2 6.45 ADAM32 0 genome.wustl.edu 37 8 39079206 39079206 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 39079206 39079206 C T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known silent c.1311 p.C437 0.995 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 24 0 0.00 29 15 34.09 ADAMTS3 0 genome.wustl.edu 37 4 73188757 73188757 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 73188757 73188757 G A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.919 p.R307C 0.995 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 40 0 0.00 18 4 18.18 ADAMTS4 0 genome.wustl.edu 37 1 161165502 161165502 + RNA SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 161165502 161165502 G A SNP ADAMTS4 ENST00000478394 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ADAMTS4 HGNC ENSG00000158859 tier1 - - 19 0 0.00 8 7 46.67 ADAMTSL1 0 genome.wustl.edu 37 9 18680350 18680350 + Frame_Shift_Del DEL G G - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 18680350 18680350 G - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.1177 p.G395fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 49 0 0.00 29 2 6.45 ADRA1B 0 genome.wustl.edu 37 5 159344142 159344142 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 159344142 159344142 G T SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known missense c.230 p.R77L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 tier1 - - 30 0 0.00 11 3 21.43 AKR1C2 0 genome.wustl.edu 37 10 5043707 5043707 + Frame_Shift_Del DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 5043707 5043707 T - DEL AKR1C2 ENST00000380753 human ensembl 74_37 -1 known frame_shift_del c.251 p.K84fs 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC ENSG00000151632 tier1 80 0 0.00 69 18 20.69 ANK3 0 genome.wustl.edu 37 10 61832417 61832417 + Frame_Shift_Del DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 61832417 61832417 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.8222 p.D2741fs 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 48 0 0.00 15 10 40.00 ANKRD26P1 0 genome.wustl.edu 37 16 46534066 46534066 + RNA SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 46534066 46534066 A G SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.913 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier1 - - 42 0 0.00 39 12 23.53 AQP10 0 genome.wustl.edu 37 1 154296217 154296217 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 154296217 154296217 C T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known silent c.642 p.N214 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 tier1 - - 57 0 0.00 30 11 26.83 ARG1 0 genome.wustl.edu 37 6 131905028 131905028 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 131905028 131905028 T C SNP ARG1 ENST00000356962 human ensembl 74_37 +1 known missense c.973 p.Y325H 0.996 NULL pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG1 HGNC ENSG00000118520 19 0 0.00 17 3 15.00 ARHGEF7 0 genome.wustl.edu 37 13 111935538 111935538 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 111935538 111935538 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1841 p.A614V 0.871 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 tier1 - - 79 0 0.00 26 15 36.59 ATP1B1 0 genome.wustl.edu 37 1 169094267 169094267 + Silent SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 169094267 169094267 A G SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known silent c.372 p.E124 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 tier1 - - 53 0 0.00 41 4 8.89 ATP8B5P 0 genome.wustl.edu 37 9 35450410 35450411 + RNA INS - - T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 35450410 35450411 0 T INS ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.876:0.812 - - - no_errors ATP8B5P HGNC ENSG00000179766 74 0 0.00 97 8 7.62 ATXN1 0 genome.wustl.edu 37 6 16761716 16761718 + RNA DEL CTC CTC - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 16761716 16761718 CTC - DEL ATXN1 ENST00000498374 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors ATXN1 HGNC ENSG00000124788 tier1 67 0 0.00 21 3 12.50 BACE2 0 genome.wustl.edu 37 21 42629162 42629162 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 21 42629162 42629162 G A SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known silent c.1212 p.A404 0.769 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 tier1 - - 36 0 0.00 15 13 46.43 BAI1 0 genome.wustl.edu 37 8 143623435 143623435 + Silent SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 143623435 143623435 G C SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.3840 p.P1280 0.231 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 41 0 0.00 43 3 6.52 BRINP1 0 genome.wustl.edu 37 9 121930252 121930252 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 121930252 121930252 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1396 p.V466M 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 27 0 0.00 20 3 13.04 BTD 0 genome.wustl.edu 37 3 15676984 15676984 + Frame_Shift_Del DEL G G - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 15676984 15676984 G - DEL BTD ENST00000303498 human ensembl 74_37 +1 known frame_shift_del c.98 p.C33fs 0.023 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 tier1 46 0 0.00 14 2 12.50 C10orf68 0 genome.wustl.edu 37 10 33103339 33103339 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 33103339 33103339 A G SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1060 p.I354V 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 32 0 0.00 22 21 48.84 C6orf89 0 genome.wustl.edu 37 6 36884310 36884310 + Missense_Mutation SNP A A T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 36884310 36884310 A T SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known missense c.806 p.K269M 1.000 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 66 0 0.00 24 2 7.69 C9orf84 0 genome.wustl.edu 37 9 114490231 114490231 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 114490231 114490231 C T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.1324 p.A442T 0.002 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 23 0 0.00 35 2 5.41 CARD18 0 genome.wustl.edu 37 11 105009563 105009563 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 105009563 105009563 C T SNP CARD18 ENST00000530950 human ensembl 74_37 -1 known missense c.250 p.A84T 0.006 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD18 HGNC ENSG00000255501 50 0 0.00 27 2 6.90 CCDC18 0 genome.wustl.edu 37 1 93652031 93652031 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 93652031 93652031 C A SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.787 p.H263N 0.947 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 - - 32 0 0.00 11 12 52.17 CCDC39 0 genome.wustl.edu 37 3 180397475 180397475 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 180397475 180397475 G C SNP CCDC39 ENST00000273654 human ensembl 74_37 -1 known missense c.171 p.F57L 0.000 NULL superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 67 0 0.00 154 22 12.50 CCDC81 0 genome.wustl.edu 37 11 86108774 86108774 + Silent SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 86108774 86108774 A G SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known silent c.747 p.E249 0.327 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 tier1 - - 42 0 0.00 20 4 16.67 CD1A 0 genome.wustl.edu 37 1 158225836 158225836 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 158225836 158225836 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.368 p.S123Y 0.007 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 48 0 0.00 31 2 6.06 CD27 0 genome.wustl.edu 37 12 6554270 6554270 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 6554270 6554270 G A SNP CD27 ENST00000266557 human ensembl 74_37 +1 known silent c.9 p.R3 0.013 prints_TNFR_7 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 tier1 - - 58 0 0.00 71 4 5.33 CDC20 0 genome.wustl.edu 37 1 43827963 43827963 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 43827963 43827963 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1301 p.A434V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 26 0 0.00 23 2 8.00 CDCA7L 0 genome.wustl.edu 37 7 21945956 21945956 + Frame_Shift_Del DEL G G - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 21945956 21945956 G - DEL CDCA7L ENST00000406877 human ensembl 74_37 -1 known frame_shift_del c.872 p.A291fs 0.132 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 tier1 59 0 0.00 38 15 28.30 CDH9 0 genome.wustl.edu 37 5 26906170 26906170 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 26906170 26906170 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known nonsense c.709 p.Q237* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 60 0 0.00 60 5 7.46 CENPE 0 genome.wustl.edu 37 4 104082532 104082532 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 104082532 104082532 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.1925 p.A642V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 50 0 0.00 44 4 8.33 CLCA3P 0 genome.wustl.edu 37 1 87109714 87109714 + RNA SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 87109714 87109714 T C SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors CLCA3P HGNC ENSG00000153923 tier1 - - 70 0 0.00 43 4 8.51 CLK1 0 genome.wustl.edu 37 2 201718664 201718664 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 201718664 201718664 C A SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known missense c.1273 p.A425S 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK1 HGNC ENSG00000013441 tier1 - - 43 0 0.00 31 12 27.91 CLSTN2 0 genome.wustl.edu 37 3 140185549 140185549 + Silent SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 140185549 140185549 G T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.1320 p.A440 0.037 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 40 0 0.00 71 4 5.33 CNGA3 0 genome.wustl.edu 37 2 99012551 99012551 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 99012551 99012551 G T SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.918 p.L306F 0.995 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 60 0 0.00 51 3 5.56 CNTNAP5 0 genome.wustl.edu 37 2 125204397 125204397 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 125204397 125204397 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.801 p.Q267H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 17 0 0.00 12 15 55.56 CNTNAP5 0 genome.wustl.edu 37 2 125204398 125204398 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 125204398 125204398 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.802 p.H268Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 17 0 0.00 12 15 55.56 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 12 0 0.00 49 5 9.26 COL11A2 0 genome.wustl.edu 37 6 33138676 33138676 + Nonsense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 33138676 33138676 C A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known nonsense c.3385 p.G1129* 0.999 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 51 0 0.00 25 2 7.41 COL15A1 0 genome.wustl.edu 37 9 101706528 101706528 + Silent SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 101706528 101706528 G T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.96 p.A32 0.173 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 43 0 0.00 27 14 34.15 COL17A1 0 genome.wustl.edu 37 10 105837199 105837199 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 105837199 105837199 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.183 p.S61 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 16 0 0.00 12 4 25.00 COL22A1 0 genome.wustl.edu 37 8 139825204 139825204 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 139825204 139825204 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1304 p.C435F 1.000 superfamily_ConA-like_lec_gl_sf pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 26 0 0.00 42 5 10.64 CRB1 0 genome.wustl.edu 37 1 197396689 197396689 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 197396689 197396689 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2234 p.T745M 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 rs28939720 - 39 0 0.00 22 9 29.03 CREB3L1 0 genome.wustl.edu 37 11 46342074 46342074 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 46342074 46342074 C A SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.1518 p.H506Q 0.393 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 tier1 - - 59 0 0.00 10 6 37.50 CSMD2 0 genome.wustl.edu 37 1 34092092 34092092 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 34092092 34092092 A G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5290 p.Y1764H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 35 0 0.00 16 3 15.79 CSMD3 0 genome.wustl.edu 37 8 113267520 113267520 + Silent SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 113267520 113267520 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.9999 p.A3333 0.996 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 33 0 0.00 33 19 36.54 CST1 0 genome.wustl.edu 37 20 23731294 23731294 + Silent SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 20 23731294 23731294 T C SNP CST1 ENST00000304749 human ensembl 74_37 -1 known silent c.210 p.V70 0.132 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 tier1 rs3188307 - 56 0 0.00 11 44 80.00 CYP2W1 0 genome.wustl.edu 37 7 1024091 1024091 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 1024091 1024091 G A SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.218 p.R73H 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 26 0 0.00 15 5 25.00 DAB2IP 0 genome.wustl.edu 37 9 124534910 124534910 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 124534910 124534910 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2103 p.P701 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 32 0 0.00 35 2 5.41 DDX3X 0 genome.wustl.edu 37 X 41207099 41207100 + RNA INS - - T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 41207099 41207100 - T INS DDX3X ENST00000478993 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors DDX3X HGNC ENSG00000215301 tier1 20 0 0.00 26 2 7.14 DEFB119 0 genome.wustl.edu 37 20 29976886 29976886 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 20 29976886 29976886 G T SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.209 p.T70N 0.597 NULL superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 tier1 - - 54 0 0.00 51 4 7.27 DMBT1 0 genome.wustl.edu 37 10 124336078 124336078 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 124336078 124336078 G T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.447 p.M149I 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 185 0 0.00 97 27 21.77 DNAH11 0 genome.wustl.edu 37 7 21657235 21657235 + Splice_Site SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 21657235 21657235 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known splice_site c.4111-2 e23-2 1.000 - - - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 40 0 0.00 41 4 8.89 DNAH3 0 genome.wustl.edu 37 16 21045322 21045322 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 21045322 21045322 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5171 p.A1724V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 27 0 0.00 14 3 17.65 DOCK1 0 genome.wustl.edu 37 10 129224199 129224199 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 129224199 129224199 C G SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.4775 p.P1592R 1.000 pfam_DOCK_C,superfamily_Cyt_c-like_dom pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 27 0 0.00 32 2 5.88 DOCK10 0 genome.wustl.edu 37 2 225702493 225702493 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 225702493 225702493 G C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.2836 p.Q946E 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 39 0 0.00 28 2 6.67 DPEP3 0 genome.wustl.edu 37 16 68010044 68010044 + Missense_Mutation SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 68010044 68010044 T A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known missense c.1257 p.Q419H 0.895 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 tier1 - - 43 0 0.00 34 6 15.00 DPP10 0 genome.wustl.edu 37 2 116101417 116101417 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 116101417 116101417 C A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.212 p.T71N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 33 0 0.00 36 2 5.26 DRP2 0 genome.wustl.edu 37 X 100509527 100509527 + Silent SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 100509527 100509527 G T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.2091 p.V697 0.985 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 31 0 0.00 17 3 15.00 ELK3 0 genome.wustl.edu 37 12 96641019 96641019 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 96641019 96641019 C T SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known missense c.509 p.P170L 0.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 tier1 - - 33 0 0.00 10 18 64.29 ENSG00000233175 0 genome.wustl.edu 37 17 43318608 43318608 + RNA SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 43318608 43318608 G T SNP ENSG00000233175 ENST00000587534 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 tier1 - - 47 0 0.00 33 4 10.81 ENSG00000257743 0 genome.wustl.edu 37 7 141820169 141820169 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 141820169 141820169 G T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.174 p.Q58H 0.214 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 29 0 0.00 23 4 14.81 ENSG00000260005 0 genome.wustl.edu 37 17 79205329 79205329 + RNA SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 79205329 79205329 G A SNP ENSG00000260005 ENST00000575922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000260005 tier1 - - 83 0 0.00 49 16 24.24 EPHA2 0 genome.wustl.edu 37 1 16458592 16458592 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 16458592 16458592 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.2292 p.L764 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 72 0 0.00 39 4 9.30 EPHA8 0 genome.wustl.edu 37 1 22925517 22925517 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 22925517 22925517 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2365 p.P789S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 34 0 0.00 28 4 12.50 EPHB1 0 genome.wustl.edu 37 3 134880886 134880886 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 134880886 134880886 G T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1449 p.M483I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 51 0 0.00 47 3 6.00 ESCO2 0 genome.wustl.edu 37 8 27634506 27634506 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 27634506 27634506 G T SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known missense c.681 p.E227D 0.002 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 tier1 - - 57 0 0.00 36 4 10.00 EZH1 0 genome.wustl.edu 37 17 40870596 40870596 + Silent SNP A A T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 40870596 40870596 A T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known silent c.807 p.L269 0.999 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 28 0 0.00 33 2 5.71 FAM205B 0 genome.wustl.edu 37 9 34834839 34834839 + RNA SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 34834839 34834839 G A SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors FAM205B HGNC ENSG00000257198 40 0 0.00 40 6 13.04 FAM20B 0 genome.wustl.edu 37 1 179019499 179019499 + Silent SNP A A C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 179019499 179019499 A C SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known silent c.463 p.R155 1.000 NULL pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 tier1 - - 81 0 0.00 64 4 5.88 FAM47A 0 genome.wustl.edu 37 X 34149759 34149759 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 34149759 34149759 G T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.637 p.P213T 0.046 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 86 0 0.00 85 5 5.56 FAM65B 0 genome.wustl.edu 37 6 24843674 24843674 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 24843674 24843674 G T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1336 p.H446N 0.003 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 81 0 0.00 45 4 8.16 FAM90A1 0 genome.wustl.edu 37 12 8376138 8376138 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 8376138 8376138 C T SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known silent c.339 p.Q113 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 tier1 - - 206 0 0.00 92 83 47.43 FASN 0 genome.wustl.edu 37 17 80038423 80038423 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 80038423 80038423 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.6870 p.I2290 0.027 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 37 0 0.00 31 4 11.43 FBXO43 0 genome.wustl.edu 37 8 101152954 101152954 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 101152954 101152954 G A SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1528 p.L510F 1.000 superfamily_F-box_dom pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 47 0 0.00 53 3 5.26 FGD6 0 genome.wustl.edu 37 12 95478413 95478413 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 95478413 95478413 C T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.4117 p.A1373T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 - - 61 0 0.00 45 17 27.42 FOXJ1 0 genome.wustl.edu 37 17 74133965 74133965 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 74133965 74133965 G A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.735 p.T245 0.064 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 tier1 - - 34 0 0.00 36 4 10.00 FOXK2 0 genome.wustl.edu 37 17 80559253 80559253 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 80559253 80559253 G A SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known missense c.1861 p.G621S 0.996 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 tier1 - - 43 0 0.00 41 4 8.89 FPR2 0 genome.wustl.edu 37 19 52272212 52272212 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 52272212 52272212 A G SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.301 p.I101V 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 tier1 - - 72 0 0.00 47 21 30.88 FPR2 0 genome.wustl.edu 37 19 52272818 52272818 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 52272818 52272818 G A SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.907 p.V303I 1.000 prints_GPCR_Rhodpsn,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 tier1 - - 33 0 0.00 8 13 61.90 GBA2 0 genome.wustl.edu 37 9 35737861 35737861 + Frame_Shift_Del DEL C C - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 35737861 35737861 C - DEL GBA2 ENST00000545786 human ensembl 74_37 -1 known frame_shift_del c.2407 p.A803fs 0.206 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 38 0 0.00 27 2 6.90 GLRB 0 genome.wustl.edu 37 4 158041816 158041816 + Splice_Site SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 158041816 158041816 T C SNP GLRB ENST00000264428 human ensembl 74_37 +1 known splice_site c.229+2 e2+2 1.000 - - - no_errors GLRB HGNC ENSG00000109738 tier1 - - 41 0 0.00 43 4 8.51 GNAS 0 genome.wustl.edu 37 20 57428515 57428515 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 20 57428515 57428515 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.5 p.A2V 0.234 NULL NULL - no_errors GNAS HGNC ENSG00000087460 47 0 0.00 27 2 6.90 GPR12 0 genome.wustl.edu 37 13 27333515 27333515 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 27333515 27333515 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.450 p.S150 0.820 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 24 0 0.00 6 8 57.14 GPR158 0 genome.wustl.edu 37 10 25464572 25464572 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 25464572 25464572 G T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.223 p.A75S 0.948 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 35 0 0.00 24 10 29.41 GPR158 0 genome.wustl.edu 37 10 25464990 25464990 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 25464990 25464990 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 70 0 0.00 93 5 5.10 GPR37L1 0 genome.wustl.edu 37 1 202097550 202097550 + Nonsense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 202097550 202097550 G T SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known nonsense c.1312 p.E438* 0.554 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 tier1 - - 55 0 0.00 32 4 11.11 GRM8 0 genome.wustl.edu 37 7 126173579 126173579 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 126173579 126173579 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.1857 p.R619 0.050 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 25 0 0.00 10 4 28.57 GSTK1 0 genome.wustl.edu 37 7 142962173 142962173 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 142962173 142962173 C T SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known silent c.372 p.R124 0.008 pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 tier1 - - 44 0 0.00 34 12 26.09 HECW2 0 genome.wustl.edu 37 2 197189751 197189751 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 197189751 197189751 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.694 p.R232W 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 18 0 0.00 20 5 20.00 HEG1 0 genome.wustl.edu 37 3 124692645 124692645 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 124692645 124692645 C T SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.3926 p.R1309Q 1.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 - - 66 0 0.00 41 4 8.51 HIST4H4 0 genome.wustl.edu 37 12 14923992 14923992 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 14923992 14923992 C T SNP HIST4H4 ENST00000358064 human ensembl 74_37 -1 known silent c.27 p.K9 0.973 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 45 0 0.00 35 3 7.89 HP1BP3 0 genome.wustl.edu 37 1 21083671 21083671 + Silent SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 21083671 21083671 C A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known silent c.969 p.S323 0.308 pfam_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 tier1 - - 45 0 0.00 49 4 7.55 HPS5 0 genome.wustl.edu 37 11 18313300 18313300 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 18313300 18313300 A G SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.2129 p.V710A 0.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 35 0 0.00 43 4 8.51 HRAS 0 genome.wustl.edu 37 11 533535 533535 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 533535 533535 C T SNP HRAS ENST00000311189 human ensembl 74_37 -1 known missense c.368 p.R123H 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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 HRAS HGNC ENSG00000174775 81 0 0.00 38 2 5.00 IDUA 0 genome.wustl.edu 37 4 998144 998145 + Frame_Shift_Ins INS - - T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 998144 998145 - T INS IDUA ENST00000453894 human ensembl 74_37 +1 known frame_shift_ins c.1991_1992 p.V665fs 0.038:0.002 NULL pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 tier1 66 0 0.00 19 2 9.52 IFT140 0 genome.wustl.edu 37 16 1576045 1576045 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 1576045 1576045 G T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.2611 p.R871S 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 63 0 0.00 27 17 38.64 INPP4B 0 genome.wustl.edu 37 4 143326457 143326457 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 143326457 143326457 G T SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.157 p.P53T 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 16 0 0.00 12 2 14.29 INSRR 0 genome.wustl.edu 37 1 156819062 156819062 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 156819062 156819062 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.1420 p.R474C 0.970 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 65 0 0.00 30 3 9.09 IRAK1 0 genome.wustl.edu 37 X 153282028 153282028 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 153282028 153282028 G A SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1096 p.R366C 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,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 tier1 rs143993525 - 57 0 0.00 25 28 52.83 KALRN 0 genome.wustl.edu 37 3 124114025 124114025 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 124114025 124114025 A G SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.2000 p.D667G 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 23 0 0.00 13 10 43.48 KAT2B 0 genome.wustl.edu 37 3 20193844 20193844 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 20193844 20193844 C T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.2326 p.R776C 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 36 0 0.00 13 3 18.75 KCNH1 0 genome.wustl.edu 37 1 210857068 210857068 + Missense_Mutation SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 210857068 210857068 T A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2525 p.D842V 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 36 0 0.00 14 12 46.15 KCNMB3 0 genome.wustl.edu 37 3 178962477 178962477 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 178962477 178962477 G A SNP KCNMB3 ENST00000314235 human ensembl 74_37 -1 known nonsense c.265 p.Q89* 0.096 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 24 0 0.00 51 4 7.27 KIAA1024 0 genome.wustl.edu 37 15 79749998 79749998 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 15 79749998 79749998 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known silent c.1509 p.T503 0.103 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 24 0 0.00 14 6 30.00 KLK11 0 genome.wustl.edu 37 19 51525871 51525871 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 51525871 51525871 C T SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.779 p.R260Q 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 39 0 0.00 24 2 7.69 KRT24 0 genome.wustl.edu 37 17 38856630 38856630 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 38856630 38856630 C A SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known missense c.861 p.M287I 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 tier1 - - 17 0 0.00 17 6 26.09 KRT82 0 genome.wustl.edu 37 12 52800029 52800029 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 52800029 52800029 C T SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known silent c.33 p.R11 0.317 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 tier1 - - 48 0 0.00 13 11 45.83 KYNU 0 genome.wustl.edu 37 2 143799646 143799646 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 143799646 143799646 G T SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.1303 p.V435L 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 tier1 - - 51 0 0.00 48 4 7.69 LARP7 0 genome.wustl.edu 37 4 113570753 113570754 + Frame_Shift_Ins INS - - A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 113570753 113570754 - A INS LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_ins c.1205_1206 p.T405fs 1.000:1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 28 0 0.00 29 2 6.45 LHX4 0 genome.wustl.edu 37 1 180243502 180243502 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 180243502 180243502 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.961 p.P321S 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 tier1 - - 68 0 0.00 53 5 8.62 LINC00969 0 genome.wustl.edu 37 3 195412992 195412992 + RNA SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 195412992 195412992 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 rs78973672 - 17 0 0.00 16 7 30.43 LOC100132891 0 genome.wustl.edu 37 8 72967916 72967916 + RNA SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 72967916 72967916 C A SNP LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.844 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 - - 68 0 0.00 49 38 43.68 LOC100293748 0 genome.wustl.edu 37 1 149240004 149240004 + RNA SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 149240004 149240004 C A SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 - - 316 0 0.00 194 60 23.62 LOC101929290 0 genome.wustl.edu 37 8 11177526 11177526 + RNA DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 11177526 11177526 T - DEL LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 10 0 0.00 11 3 21.43 LOC101929532 0 genome.wustl.edu 37 2 163027347 163027347 + RNA DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 163027347 163027347 T - DEL LOC101929532 ENST00000418968 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007750.5 Clone_based_vega_gene ENSG00000236841 tier1 43 0 0.00 17 33 66.00 LOC388882 0 genome.wustl.edu 37 22 23822639 23822639 + RNA SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 22 23822639 23822639 T C SNP LOC388882 ENST00000320372 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000345.1 Clone_based_vega_gene ENSG00000178248 tier1 - - 104 0 0.00 63 4 5.97 LRRC34 0 genome.wustl.edu 37 3 169514579 169514579 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 169514579 169514579 C T SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.862 p.D288N 0.999 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 23 0 0.00 54 3 5.26 LYPD2 0 genome.wustl.edu 37 8 143832527 143832527 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 143832527 143832527 G A SNP LYPD2 ENST00000359228 human ensembl 74_37 -1 known silent c.120 p.I40 0.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD2 HGNC ENSG00000197353 46 0 0.00 29 2 6.45 MACF1 0 genome.wustl.edu 37 1 39893127 39893127 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 39893127 39893127 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.10131 p.R3377S 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 45 0 0.00 43 4 8.51 MAGI3 0 genome.wustl.edu 37 1 113933940 113933940 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 113933940 113933940 C T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known silent c.285 p.R95 0.982 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 tier1 - - 107 0 0.00 60 4 6.25 MAPT 0 genome.wustl.edu 37 17 44061259 44061259 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 44061259 44061259 G A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.1089 p.P363 0.001 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 tier1 - - 70 0 0.00 44 13 22.41 MAST3 0 genome.wustl.edu 37 19 18255876 18255876 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 18255876 18255876 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2789 p.S930L 0.998 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 80 0 0.00 31 2 6.06 MB21D2 0 genome.wustl.edu 37 3 192516915 192516915 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 192516915 192516915 C A SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.736 p.A246S 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 tier1 - - 45 0 0.00 55 12 17.91 MEF2C 0 genome.wustl.edu 37 5 88027605 88027605 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 88027605 88027605 G T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known missense c.751 p.R251S 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 67 0 0.00 16 17 51.52 MEGF11 0 genome.wustl.edu 37 15 66274746 66274746 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 15 66274746 66274746 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.475 p.G159S 0.996 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 tier1 - - 27 0 0.00 9 3 25.00 METTL21C 0 genome.wustl.edu 37 13 103338488 103338488 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 103338488 103338488 C T SNP METTL21C ENST00000267273 human ensembl 74_37 -1 known missense c.688 p.D230N 0.999 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21C HGNC ENSG00000139780 28 0 0.00 13 2 13.33 MSANTD2 0 genome.wustl.edu 37 11 124642890 124642890 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 124642890 124642890 T C SNP MSANTD2 ENST00000374979 human ensembl 74_37 -1 known missense c.827 p.Q276R 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 tier1 - - 54 0 0.00 25 4 13.79 MSH6 0 genome.wustl.edu 37 2 48026991 48026991 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 48026991 48026991 C T SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known silent c.1869 p.P623 0.271 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 39 0 0.00 28 2 6.67 MT-CO1 0 genome.wustl.edu 37 MT 5997 5997 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 MT 5997 5997 G T SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.94 p.A32S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 54 0 0.00 13 2 13.33 MT-RNR2 0 genome.wustl.edu 37 MT 2701 2701 + RNA SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 MT 2701 2701 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 1328 0 0.00 258 230 46.84 MTMR11 0 genome.wustl.edu 37 1 149904175 149904175 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 149904175 149904175 G A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known nonsense c.1033 p.R345* 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 21 0 0.00 23 2 8.00 MTNR1A 0 genome.wustl.edu 37 4 187455431 187455431 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 187455431 187455431 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.465 p.T155 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 tier1 - - 38 0 0.00 27 9 25.00 MUC12 0 genome.wustl.edu 37 7 100634688 100634688 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 100634688 100634688 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.844 p.P282S 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 74 0 0.00 67 4 5.63 MUC19 0 genome.wustl.edu 37 12 40814062 40814062 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 40814062 40814062 T C SNP MUC19 ENST00000425730 human ensembl 74_37 +1 putative missense c.421 p.F141L 1.000 pfam_VWF_type-D pfam_VWF_type-D - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 24 0 0.00 11 3 21.43 MUC2 0 genome.wustl.edu 37 11 1093688 1093688 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 1093688 1093688 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5507 p.P1836L 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 118 0 0.00 24 24 50.00 MYH14 0 genome.wustl.edu 37 19 50783349 50783349 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 50783349 50783349 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4088 p.R1363H 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 122 0 0.00 76 7 8.33 NACA 0 genome.wustl.edu 37 12 57111073 57111073 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 57111073 57111073 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.4241 p.K1414R 0.002 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 121 0 0.00 74 4 5.13 NANS 0 genome.wustl.edu 37 9 100845271 100845271 + Silent SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 100845271 100845271 T A SNP NANS ENST00000210444 human ensembl 74_37 +1 known silent c.1014 p.T338 0.092 pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 tier1 - - 44 0 0.00 31 11 26.19 NCAN 0 genome.wustl.edu 37 19 19338453 19338453 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 19338453 19338453 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2024 p.T675I 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 - - 81 0 0.00 32 18 36.00 NCAPD3 0 genome.wustl.edu 37 11 134054839 134054839 + Missense_Mutation SNP A A T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 134054839 134054839 A T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2294 p.I765N 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 36 0 0.00 20 4 16.67 NEB 0 genome.wustl.edu 37 2 152432749 152432749 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 152432749 152432749 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.16824 p.T5608 0.731 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 46 0 0.00 15 23 60.53 NKPD1 0 genome.wustl.edu 37 19 45656300 45656300 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 45656300 45656300 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.1395 p.Y465 0.999 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 48 0 0.00 16 6 27.27 NOA1 0 genome.wustl.edu 37 4 57834566 57834566 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 57834566 57834566 C T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1631 p.R544H 1.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 59 0 0.00 55 4 6.78 NOL6 0 genome.wustl.edu 37 9 33462777 33462777 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 33462777 33462777 C T SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.3326 p.R1109Q 0.001 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 tier1 rs138187500 - 31 0 0.00 36 5 12.20 NRXN3 0 genome.wustl.edu 37 14 78709770 78709770 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 14 78709770 78709770 C G SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.334 p.L112V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 26 0 0.00 18 7 28.00 NRXN3 0 genome.wustl.edu 37 14 79175585 79175585 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 14 79175585 79175585 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1241 p.R414H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 42 0 0.00 23 3 11.54 NUP188 0 genome.wustl.edu 37 9 131765723 131765723 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 131765723 131765723 G T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.4424 p.R1475L 0.444 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 42 0 0.00 43 4 8.51 NUP210 0 genome.wustl.edu 37 3 13363115 13363115 + Frame_Shift_Del DEL A A - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 13363115 13363115 A - DEL NUP210 ENST00000254508 human ensembl 74_37 -1 known frame_shift_del c.5136 p.F1712fs 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 41 0 0.00 10 2 16.67 NYAP2 0 genome.wustl.edu 37 2 226447741 226447741 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 226447741 226447741 G T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1608 p.E536D 0.880 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 54 0 0.00 18 8 30.77 ODF3B 0 genome.wustl.edu 37 22 50970479 50970479 + Frame_Shift_Del DEL A A - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 22 50970479 50970479 A - DEL ODF3B ENST00000329363 human ensembl 74_37 -1 known frame_shift_del c.28 p.W10fs 0.954 NULL pfam_SHIPPO-rpt - no_errors ODF3B HGNC ENSG00000177989 tier1 16 0 0.00 4 2 33.33 OR14C36 0 genome.wustl.edu 37 1 248512782 248512782 + Frame_Shift_Del DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 248512782 248512782 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.706 p.S237fs 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 tier1 19 0 0.00 11 2 15.38 OR2T6 0 genome.wustl.edu 37 1 248551111 248551111 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 248551111 248551111 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.202 p.V68I 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 42 0 0.00 31 3 8.82 OR2V2 0 genome.wustl.edu 37 5 180582374 180582374 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 180582374 180582374 G C SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.432 p.Q144H 0.936 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 - - 85 0 0.00 37 6 13.95 OR2W1 0 genome.wustl.edu 37 6 29012060 29012060 + Missense_Mutation SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 29012060 29012060 T A SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known missense c.893 p.K298M 0.888 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 tier1 - - 35 0 0.00 27 14 33.33 OR5M9 0 genome.wustl.edu 37 11 56230099 56230099 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 56230099 56230099 C A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.779 p.R260I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 tier1 - - 50 0 0.00 26 9 25.71 OR6Y1 0 genome.wustl.edu 37 1 158517456 158517456 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 158517456 158517456 C A SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.440 p.G147V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 tier1 - - 45 0 0.00 23 16 41.03 OR7E94P 0 genome.wustl.edu 37 4 80509142 80509142 + RNA SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 80509142 80509142 C G SNP OR7E94P ENST00000601375 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors OR7E94P HGNC ENSG00000249646 tier1 - - 55 0 0.00 35 7 16.67 OVCH1 0 genome.wustl.edu 37 12 29604479 29604479 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 29604479 29604479 C G SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2554 p.E852Q 0.001 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 27 0 0.00 29 2 6.45 P4HA1 0 genome.wustl.edu 37 10 74813333 74813333 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 74813333 74813333 G T SNP P4HA1 ENST00000263556 human ensembl 74_37 -1 known missense c.479 p.S160Y 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 tier1 - - 36 0 0.00 26 10 27.78 P4HB 0 genome.wustl.edu 37 17 79813462 79813462 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 79813462 79813462 G C SNP P4HB ENST00000331483 human ensembl 74_37 -1 known missense c.353 p.A118G 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 tier1 - - 88 0 0.00 43 9 17.31 PBX1 0 genome.wustl.edu 37 1 164529123 164529123 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 164529123 164529123 C A SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.64 p.L22M 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 tier1 - - 129 0 0.00 56 8 12.50 PCDH11X 0 genome.wustl.edu 37 X 91873866 91873866 + Frame_Shift_Del DEL C C - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 91873866 91873866 C - DEL PCDH11X ENST00000373094 human ensembl 74_37 +1 known frame_shift_del c.3971 p.T1324fs 0.419 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 49 0 0.00 34 2 5.56 PCDH20 0 genome.wustl.edu 37 13 61986436 61986436 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 61986436 61986436 C A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1796 p.R599L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 19 0 0.00 20 2 9.09 PDS5A 0 genome.wustl.edu 37 4 39918704 39918704 + Missense_Mutation SNP T T G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 39918704 39918704 T G SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.840 p.L280F 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 - - 48 0 0.00 24 12 33.33 PDZD8 0 genome.wustl.edu 37 10 119044395 119044395 + Nonsense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 119044395 119044395 C A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known nonsense c.1849 p.E617* 0.988 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 tier1 - - 38 0 0.00 20 9 31.03 PDZD8 0 genome.wustl.edu 37 10 119043705 119043705 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 119043705 119043705 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known nonsense c.2539 p.Q847* 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 38 0 0.00 38 2 5.00 PFAS 0 genome.wustl.edu 37 17 8158846 8158846 + Silent SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 8158846 8158846 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.411 p.V137 0.613 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 60 0 0.00 36 19 34.55 PHKB 0 genome.wustl.edu 37 16 47733186 47733186 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 47733186 47733186 G T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.3191 p.G1064V 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 - - 59 0 0.00 62 4 6.06 PLBD2 0 genome.wustl.edu 37 12 113806939 113806939 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 113806939 113806939 G A SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known silent c.309 p.L103 0.948 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 tier1 - - 38 0 0.00 36 4 10.00 PMS2 0 genome.wustl.edu 37 7 6035230 6035230 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 6035230 6035230 C G SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.838 p.V280L 0.996 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 tier1 - - 47 0 0.00 15 15 50.00 PNPLA7 0 genome.wustl.edu 37 9 140392584 140392584 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 140392584 140392584 G T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.1871 p.A624D 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 42 0 0.00 57 4 6.56 PPP6R1 0 genome.wustl.edu 37 19 55748329 55748329 + Frame_Shift_Del DEL A A - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 55748329 55748329 A - DEL PPP6R1 ENST00000412770 human ensembl 74_37 -1 known frame_shift_del c.1761 p.F587fs 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 tier1 44 0 0.00 35 2 5.41 PPRC1 0 genome.wustl.edu 37 10 103900460 103900460 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 103900460 103900460 C T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.2195 p.S732F 0.059 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 25 0 0.00 16 3 15.79 PRDM9 0 genome.wustl.edu 37 5 23522457 23522457 + Nonsense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 23522457 23522457 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known nonsense c.553 p.E185* 0.319 pfam_SSXRD_motif pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 59 0 0.00 56 6 9.68 PRKCSH 0 genome.wustl.edu 37 19 11558389 11558391 + In_Frame_Del DEL GAG GAG - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 11558389 11558391 GAG - DEL PRKCSH ENST00000252455 human ensembl 74_37 +1 known in_frame_del c.985_987 p.E332in_frame_del 0.991:0.981:0.490 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 69 0 0.00 21 2 8.70 PRKD2 0 genome.wustl.edu 37 19 47181824 47181824 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 47181824 47181824 G A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known silent c.2167 p.L723 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 tier1 - - 55 0 0.00 34 4 10.53 PRKD2 0 genome.wustl.edu 37 19 47207558 47207558 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 47207558 47207558 G A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known silent c.757 p.L253 0.977 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 tier1 - - 54 0 0.00 26 10 27.78 PRSS58 0 genome.wustl.edu 37 7 141955476 141955476 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 141955476 141955476 G C SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known missense c.58 p.P20A 0.002 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 tier1 - - 27 0 0.00 17 3 15.00 PTPN14 0 genome.wustl.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 214557049 214557051 CCT - DEL PTPN14 ENST00000366956 human ensembl 74_37 -1 known in_frame_del c.2149_2147 p.E716in_frame_del 0.182:0.503:0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 25 0 0.00 13 3 18.75 QPCT 0 genome.wustl.edu 37 2 37594505 37594505 + Frame_Shift_Del DEL C C - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 37594505 37594505 C - DEL QPCT ENST00000338415 human ensembl 74_37 +1 known frame_shift_del c.677 p.P227fs 0.638 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 tier1 24 0 0.00 21 2 8.70 R3HDM2 0 genome.wustl.edu 37 12 57663112 57663112 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 57663112 57663112 G A SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known nonsense c.1666 p.Q556* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 77 0 0.00 49 4 7.55 RABL2B 0 genome.wustl.edu 37 22 51208155 51208155 + RNA SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 22 51208155 51208155 C T SNP RABL2B ENST00000465063 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 tier1 - - 24 0 0.00 8 4 33.33 RFX6 0 genome.wustl.edu 37 6 117245835 117245835 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 6 117245835 117245835 C G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1559 p.S520C 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 50 0 0.00 32 13 28.26 RIMBP2 0 genome.wustl.edu 37 12 130926544 130926544 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 130926544 130926544 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.1302 p.A434 0.278 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 67 0 0.00 18 31 63.27 RLF 0 genome.wustl.edu 37 1 40702244 40702244 + Missense_Mutation SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 40702244 40702244 T A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.1870 p.S624T 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 37 0 0.00 15 17 53.12 RMDN2-AS1 0 genome.wustl.edu 37 2 38177583 38177583 + RNA SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 38177583 38177583 C G SNP RMDN2-AS1 ENST00000414365 human ensembl 74_37 -1 known rna NULL NULL 0.915 - - - no_errors RMDN2-AS1 HGNC ENSG00000235848 tier1 - - 44 0 0.00 33 4 10.81 RRS1 0 genome.wustl.edu 37 8 67341994 67341994 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 67341994 67341994 A G SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known missense c.628 p.T210A 0.163 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 tier1 - - 22 0 0.00 8 14 63.64 SACS 0 genome.wustl.edu 37 13 23915309 23915309 + Silent SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 23915309 23915309 G C SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.2706 p.A902 0.991 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 55 0 0.00 38 2 5.00 SAGE1 0 genome.wustl.edu 37 X 134993792 134993792 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 134993792 134993792 C A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.2201 p.P734H 0.057 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 24 0 0.00 4 11 73.33 SALL1 0 genome.wustl.edu 37 16 51174226 51174226 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 51174226 51174226 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1907 p.T636M 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 20 0 0.00 22 5 18.52 SAT2 0 genome.wustl.edu 37 17 7530049 7530049 + RNA SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 7530049 7530049 G A SNP SAT2 ENST00000570850 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SAT2 HGNC ENSG00000141504 tier1 - - 69 0 0.00 41 4 8.89 SCARF1 0 genome.wustl.edu 37 17 1548525 1548525 + Nonsense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 1548525 1548525 G T SNP SCARF1 ENST00000573852 human ensembl 74_37 -1 known nonsense c.147 p.C49* 0.107 NULL NULL - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 96 0 0.00 36 4 10.00 SEC13 0 genome.wustl.edu 37 3 10357052 10357052 + Silent SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 10357052 10357052 G T SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known silent c.117 p.I39 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 29 0 0.00 19 2 9.52 SH3KBP1 0 genome.wustl.edu 37 X 19702016 19702016 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 19702016 19702016 G T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.651 p.D217E 0.991 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 - - 42 0 0.00 36 4 10.00 SKIDA1 0 genome.wustl.edu 37 10 21806537 21806537 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 21806537 21806537 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.215 p.S72N 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 61 0 0.00 48 4 7.69 SLC25A40 0 genome.wustl.edu 37 7 87476367 87476367 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 87476367 87476367 G A SNP SLC25A40 ENST00000341119 human ensembl 74_37 -1 known silent c.528 p.Y176 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A40 HGNC ENSG00000075303 tier1 - - 42 0 0.00 24 9 27.27 SLC4A8 0 genome.wustl.edu 37 12 51890822 51890822 + Nonsense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 51890822 51890822 C T SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known nonsense c.2995 p.R999* 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 tier1 - - 64 0 0.00 48 4 7.69 SLC5A7 0 genome.wustl.edu 37 2 108608612 108608612 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 108608612 108608612 G T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.229 p.V77L 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 tier1 - - 49 0 0.00 63 4 5.97 SLC7A1 0 genome.wustl.edu 37 13 30096468 30096468 + Nonsense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 13 30096468 30096468 G T SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known nonsense c.1175 p.S392* 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 61 0 0.00 43 3 6.52 SLC9A9 0 genome.wustl.edu 37 3 143412093 143412093 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 143412093 143412093 C A SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.590 p.G197V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 42 0 0.00 99 23 18.85 SLIT2 0 genome.wustl.edu 37 4 20568920 20568920 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 20568920 20568920 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2761 p.P921S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 39 0 0.00 13 13 50.00 SNTG2 0 genome.wustl.edu 37 2 1093924 1093924 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 1093924 1093924 G T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.253 p.G85C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 37 0 0.00 47 4 7.84 SPEF2 0 genome.wustl.edu 37 5 35700690 35700690 + Missense_Mutation SNP A A T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 35700690 35700690 A T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2234 p.N745I 0.005 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 34 0 0.00 29 4 12.12 SPTA1 0 genome.wustl.edu 37 1 158612690 158612690 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 158612690 158612690 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.4519 p.R1507* 0.395 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 40 0 0.00 38 4 9.52 SPTA1 0 genome.wustl.edu 37 1 158637726 158637727 + Frame_Shift_Ins INS - - A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 158637726 158637727 - A INS SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_ins c.1960_1959 p.A653fs 1.000:0.526 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 55 0 0.00 43 14 24.56 SPTLC2 0 genome.wustl.edu 37 14 77987910 77987910 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 14 77987910 77987910 G T SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.1318 p.Q440K 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 43 0 0.00 32 2 5.88 ST18 0 genome.wustl.edu 37 8 53092844 53092844 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 53092844 53092844 T C SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.115 p.K39E 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 68 0 0.00 71 4 5.33 ST6GALNAC1 0 genome.wustl.edu 37 17 74625793 74625793 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 74625793 74625793 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known silent c.132 p.R44 0.530 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 tier1 - - 25 0 0.00 9 6 40.00 STT3B 0 genome.wustl.edu 37 3 31666481 31666481 + Silent SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 31666481 31666481 A G SNP STT3B ENST00000295770 human ensembl 74_37 +1 known silent c.1803 p.V601 0.999 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 25 0 0.00 12 12 50.00 TAF7L 0 genome.wustl.edu 37 X 100531458 100531458 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 X 100531458 100531458 C A SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known missense c.1008 p.E336D 0.006 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 tier1 - - 22 0 0.00 9 3 25.00 TGFBR2 0 genome.wustl.edu 37 3 30715615 30715615 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 30715615 30715615 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1348 p.M450V 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 rs104893817 - 50 0 0.00 20 14 41.18 THRB 0 genome.wustl.edu 37 3 24206692 24206692 + Frame_Shift_Del DEL C C - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 24206692 24206692 C - DEL THRB ENST00000280696 human ensembl 74_37 -1 putative frame_shift_del c.154 p.E52fs 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 tier1 40 0 0.00 11 2 15.38 TIMELESS 0 genome.wustl.edu 37 12 56817448 56817448 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 12 56817448 56817448 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2010 p.E670 0.863 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 31 0 0.00 12 3 20.00 TJP1 0 genome.wustl.edu 37 15 30053420 30053420 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 15 30053420 30053420 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.932 p.S311N 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 53 0 0.00 43 4 8.51 TMED9 0 genome.wustl.edu 37 5 177022337 177022337 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 177022337 177022337 C A SNP TMED9 ENST00000332598 human ensembl 74_37 +1 known missense c.628 p.Q210K 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED9 HGNC ENSG00000184840 tier1 - - 47 0 0.00 8 17 68.00 TMEM199 0 genome.wustl.edu 37 17 26685980 26685980 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 26685980 26685980 A G SNP TMEM199 ENST00000509083 human ensembl 74_37 +1 known missense c.253 p.I85V 0.998 pfam_ATPase_Vma12 pfam_ATPase_Vma12 - no_errors TMEM199 HGNC ENSG00000244045 tier1 - - 64 0 0.00 13 13 50.00 TMEM67 0 genome.wustl.edu 37 8 94821160 94821160 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 94821160 94821160 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known silent c.2532 p.D844 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 34 0 0.00 28 20 41.67 TNFRSF25 0 genome.wustl.edu 37 1 6525238 6525238 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 6525238 6525238 T C SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.205 p.T69A 0.671 smart_TNFR/NGFR_Cys_rich_reg pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 69 0 0.00 65 4 5.80 TNFRSF8 0 genome.wustl.edu 37 1 12164486 12164486 + Nonsense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 12164486 12164486 G T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known nonsense c.319 p.E107* 0.439 pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 57 0 0.00 23 9 28.12 TNFSF4 0 genome.wustl.edu 37 1 173157682 173157682 + Missense_Mutation SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 173157682 173157682 T A SNP TNFSF4 ENST00000281834 human ensembl 74_37 -1 known missense c.180 p.Q60H 0.936 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom - no_errors TNFSF4 HGNC ENSG00000117586 tier1 - - 48 0 0.00 37 4 9.76 TNKS2 0 genome.wustl.edu 37 10 93590750 93590750 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 10 93590750 93590750 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.1175 p.N392S 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_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 24 0 0.00 25 2 7.41 TNN 0 genome.wustl.edu 37 1 175086207 175086207 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 175086207 175086207 G C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2252 p.R751T 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 82 0 0.00 69 4 5.48 TNRC6A 0 genome.wustl.edu 37 16 24788375 24788375 + Silent SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 24788375 24788375 A G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known silent c.285 p.P95 0.750 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 61 0 0.00 50 10 16.39 TP53 0 genome.wustl.edu 37 17 7579361 7579361 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 17 7579361 7579361 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.326 p.F109S 0.980 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 91 0 0.00 23 44 65.67 TRIO 0 genome.wustl.edu 37 5 14406743 14406743 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 5 14406743 14406743 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.4921 p.A1641T 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 39 0 0.00 15 11 42.31 TRIP11 0 genome.wustl.edu 37 14 92470599 92470599 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 14 92470599 92470599 G T SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.3721 p.Q1241K 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 tier1 - - 38 0 0.00 30 10 25.00 TSC1 0 genome.wustl.edu 37 9 135772902 135772902 + Frame_Shift_Del DEL T T - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 9 135772902 135772902 T - DEL TSC1 ENST00000298552 human ensembl 74_37 -1 known frame_shift_del c.2721 p.K907fs 0.991 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 42 0 0.00 38 2 5.00 TTN 0 genome.wustl.edu 37 2 179611959 179611959 + Silent SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 179611959 179611959 C A SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.15168 p.G5056 0.970 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 57 0 0.00 19 50 72.46 TUBB1 0 genome.wustl.edu 37 20 57599831 57599831 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 20 57599831 57599831 G A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.1349 p.G450E 0.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 tier1 - - 37 0 0.00 15 5 25.00 TUBB8P7 0 genome.wustl.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 90162620 90162620 T G SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors TUBB8P7 HGNC ENSG00000261812 106 0 0.00 53 3 5.36 UBE2H 0 genome.wustl.edu 37 7 129498753 129498753 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 7 129498753 129498753 G T SNP UBE2H ENST00000355621 human ensembl 74_37 -1 known missense c.234 p.N78K 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2H HGNC ENSG00000186591 tier1 - - 42 0 0.00 41 4 8.89 UGT2B17 0 genome.wustl.edu 37 4 69403558 69403558 + Nonsense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 4 69403558 69403558 G A SNP UGT2B17 ENST00000317746 human ensembl 74_37 -1 known nonsense c.1378 p.R460* 0.229 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 tier1 - - 71 0 0.00 14 30 68.18 USP34 0 genome.wustl.edu 37 2 61633028 61633028 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 61633028 61633028 C G SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.367 p.E123Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 47 0 0.00 36 2 5.26 USP8 0 genome.wustl.edu 37 15 50774176 50774176 + Frame_Shift_Del DEL A A - TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 15 50774176 50774176 A - DEL USP8 ENST00000307179 human ensembl 74_37 +1 known frame_shift_del c.1717 p.R574fs 1.000 NULL pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 tier1 35 0 0.00 30 2 6.25 VPS13C 0 genome.wustl.edu 37 15 62169209 62169209 + Missense_Mutation SNP T T C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 15 62169209 62169209 T C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.10187 p.Q3396R 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 35 0 0.00 36 2 5.26 VPS13D 0 genome.wustl.edu 37 1 12336369 12336369 + Silent SNP T T A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 12336369 12336369 T A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known silent c.2724 p.T908 0.022 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 - - 28 0 0.00 15 5 25.00 WDR18 0 genome.wustl.edu 37 19 994323 994323 + Missense_Mutation SNP A A G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 994323 994323 A G SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.1279 p.I427V 0.995 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 WDR18 HGNC ENSG00000065268 tier1 - - 37 0 0.00 17 8 32.00 WDR49 0 genome.wustl.edu 37 3 167371112 167371112 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 167371112 167371112 G A SNP WDR49 ENST00000471198 human ensembl 74_37 -1 known silent c.102 p.G34 0.000 NULL NULL - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 50 0 0.00 82 8 8.79 WDR65 0 genome.wustl.edu 37 1 43708938 43708938 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 1 43708938 43708938 G A SNP WDR65 ENST00000372492 human ensembl 74_37 +1 novel missense c.3446 p.R1149K 0.996 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 tier1 - - 45 0 0.00 36 10 21.74 XIRP1 0 genome.wustl.edu 37 3 39227196 39227196 + Silent SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 3 39227196 39227196 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.3741 p.P1247 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 66 0 0.00 26 2 7.14 XKR4 0 genome.wustl.edu 37 8 56436772 56436772 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 8 56436772 56436772 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1939 p.E647K 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 43 0 0.00 33 22 40.00 ZDHHC13 0 genome.wustl.edu 37 11 19173823 19173823 + Missense_Mutation SNP A A C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 11 19173823 19173823 A C SNP ZDHHC13 ENST00000446113 human ensembl 74_37 +1 known missense c.703 p.K235Q 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_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 tier1 - - 36 0 0.00 41 21 33.87 ZEB2 0 genome.wustl.edu 37 2 145156077 145156077 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 2 145156077 145156077 G T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2677 p.P893T 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 28 0 0.00 29 2 6.45 ZNF175 0 genome.wustl.edu 37 19 52090212 52090212 + Missense_Mutation SNP G G C TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 52090212 52090212 G C SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.628 p.E210Q 0.802 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 ZNF175 HGNC ENSG00000105497 tier1 - - 45 0 0.00 28 7 20.00 ZNF208 0 genome.wustl.edu 37 19 22154522 22154522 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 22154522 22154522 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3314 p.R1105K 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 ZNF208 HGNC ENSG00000160321 40 0 0.00 32 2 5.88 ZNF519 0 genome.wustl.edu 37 18 14105336 14105336 + Missense_Mutation SNP C C A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 18 14105336 14105336 C A SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known missense c.1203 p.E401D 1.000 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 ZNF519 HGNC ENSG00000175322 45 0 0.00 28 3 9.68 ZNF579 0 genome.wustl.edu 37 19 56090030 56090030 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 19 56090030 56090030 G A SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known silent c.976 p.L326 0.961 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 21 0 0.00 11 3 21.43 ZSCAN32 0 genome.wustl.edu 37 16 3440513 3440513 + Nonsense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f9c01a82-b616-4c45-bae1-edaa23ffb138 2b2f2f99-9750-41ac-84a6-fb779e11b166 16 3440513 3440513 C T SNP ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known nonsense c.537 p.W179* 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN32 HGNC ENSG00000140987 tier1 - - 75 0 0.00 48 4 7.69