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 ABCA13 154664 genome.wustl.edu 37 7 48273629 48273629 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 48273629 48273629 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.778 p.L260 0.026 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCD3 5825 genome.wustl.edu 37 1 94972174 94972174 + Silent SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 94972174 94972174 C A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known silent c.1893 p.G631 0.994 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ACTA1 58 genome.wustl.edu 37 1 229568027 229568027 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 229568027 229568027 G A SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known silent c.606 p.F202 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ADAM11 4185 genome.wustl.edu 37 17 42850447 42850447 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 42850447 42850447 C T SNP ADAM11 ENST00000200557 human ensembl 70_37 +1 known silent c.819 p.A273 0.379 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM11 HGNC ADAMTS1 9510 genome.wustl.edu 37 21 28217230 28217230 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 28217230 28217230 C G SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.44 p.G15A 0.060 prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ADAMTS1 9510 genome.wustl.edu 37 21 28217233 28217233 + Missense_Mutation SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 28217233 28217233 A T SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.41 p.L14Q 0.001 prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC AHI1 54806 genome.wustl.edu 37 6 135679284 135679284 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 135679284 135679284 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.3151 p.D1051H 0.053 pfscan_SH3_domain pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ANAPC1 64682 genome.wustl.edu 37 2 112588897 112588897 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 112588897 112588897 G A SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known missense c.2591 p.P864L 1.000 NULL NULL - no_errors ANAPC1 HGNC ANKS6 203286 genome.wustl.edu 37 9 101513319 101513319 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 101513319 101513319 C T SNP ANKS6 ENST00000375018 human ensembl 70_37 -1 known missense c.2389 p.E797K 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC AR 367 genome.wustl.edu 37 X 66765955 66765955 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 66765955 66765955 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.967 p.E323K 0.061 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARID4B 51742 genome.wustl.edu 37 1 235383751 235383751 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 235383751 235383751 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.1273 p.E425Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ASCC3 10973 genome.wustl.edu 37 6 101312040 101312040 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 101312040 101312040 C T SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known nonsense c.141 p.W47* 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ATMIN 23300 genome.wustl.edu 37 16 81077781 81077781 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 81077781 81077781 G C SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.1678 p.E560Q 0.642 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ATRNL1 26033 genome.wustl.edu 37 10 117607476 117607476 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 117607476 117607476 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3992 p.S1331L 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC B2M 567 genome.wustl.edu 37 15 45007719 45007719 + Nonsense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 45007719 45007719 G T SNP B2M ENST00000544417 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.202 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC BDP1 55814 genome.wustl.edu 37 5 70808182 70808182 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 70808182 70808182 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.4174 p.E1392K 0.042 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC C1QL1 10882 genome.wustl.edu 37 17 43044840 43044840 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 43044840 43044840 C T SNP C1QL1 ENST00000253407 human ensembl 70_37 -1 known missense c.577 p.D193N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC RTCB 51493 genome.wustl.edu 37 22 32791044 32791044 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 32791044 32791044 G A SNP C22orf28 ENST00000216038 human ensembl 70_37 -1 known missense c.1148 p.P383L 1.000 pfam_RtcB_family,superfamily_RtcB_family pfam_RtcB_family,superfamily_RtcB_family - no_errors C22orf28 HGNC CAPN10 11132 genome.wustl.edu 37 2 241535885 241535885 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 241535885 241535885 C T SNP CAPN10 ENST00000391984 human ensembl 70_37 +1 known silent c.1428 p.D476 0.076 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC CCDC74B 91409 genome.wustl.edu 37 2 130900839 130900839 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 130900839 130900839 C T SNP CCDC74B ENST00000409234 human ensembl 70_37 -1 putative missense c.298 p.E100K 0.607 NULL NULL - no_errors CCDC74B HGNC CCDC93 54520 genome.wustl.edu 37 2 118703126 118703126 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 118703126 118703126 C G SNP CCDC93 ENST00000376300 human ensembl 70_37 -1 known missense c.1329 p.L443F 0.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC CCPG1 9236 genome.wustl.edu 37 15 55651779 55651779 + Frame_Shift_Del DEL C C - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 55651779 55651779 C - DEL CCPG1 ENST00000310958 human ensembl 70_37 -1 known frame_shift_del c.2192 p.R731fs 1.000 NULL NULL - no_errors CCPG1 HGNC CDC25B 994 genome.wustl.edu 37 20 3782998 3782998 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 3782998 3782998 G A SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.1169 p.R390Q 0.862 superfamily_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC CDC42EP3 10602 genome.wustl.edu 37 2 37873588 37873588 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 37873588 37873588 C A SNP CDC42EP3 ENST00000295324 human ensembl 70_37 -1 known missense c.143 p.G48V 1.000 pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP3 HGNC CDK12 51755 genome.wustl.edu 37 17 37649098 37649098 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 37649098 37649098 G A SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.2203 p.E735K 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK12 HGNC CDKL5 6792 genome.wustl.edu 37 X 18622355 18622355 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 18622355 18622355 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1311 p.N437 0.999 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors CDKL5 HGNC CELSR2 1952 genome.wustl.edu 37 1 109813168 109813168 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 109813168 109813168 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.7429 p.G2477S 0.993 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CES3 23491 genome.wustl.edu 37 16 66998385 66998385 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 66998385 66998385 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known missense c.686 p.S229C 0.985 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC CGNL1 84952 genome.wustl.edu 37 15 57754079 57754079 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 57754079 57754079 G A SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known missense c.2392 p.E798K 0.997 prints_Tropomyosin pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC CIC 23152 genome.wustl.edu 37 19 42796810 42796810 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 42796810 42796810 C A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3268 p.P1090T 0.997 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CLCN5 1184 genome.wustl.edu 37 X 49855455 49855455 + Frame_Shift_Del DEL T T - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 49855455 49855455 T - DEL CLCN5 ENST00000376088 human ensembl 70_37 +1 known frame_shift_del c.2272 p.F758fs 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC CLCN5 1184 genome.wustl.edu 37 X 49855456 49855456 + Missense_Mutation SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 49855456 49855456 T C SNP CLCN5 ENST00000376088 human ensembl 70_37 +1 known missense c.2273 p.F758S 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 146829596 146829596 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 146829596 146829596 C G SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.1343 p.S448C 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,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC COL21A1 81578 genome.wustl.edu 37 6 56006594 56006594 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 56006594 56006594 C T SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.1531 p.D511N 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC COPE 11316 genome.wustl.edu 37 19 19010503 19010503 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 19010503 19010503 G A SNP COPE ENST00000262812 human ensembl 70_37 -1 known silent c.912 p.Y304 0.994 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC CPB2 1361 genome.wustl.edu 37 13 46638848 46638848 + Missense_Mutation SNP A A C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 13 46638848 46638848 A C SNP CPB2 ENST00000181383 human ensembl 70_37 -1 known missense c.731 p.F244C 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC CRYGB 1419 genome.wustl.edu 37 2 209010507 209010507 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 209010507 209010507 G A SNP CRYGB ENST00000260988 human ensembl 70_37 -1 known silent c.243 p.L81 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGB HGNC CSMD1 64478 genome.wustl.edu 37 8 3059184 3059184 + Frame_Shift_Del DEL C C - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 3059184 3059184 C - DEL CSMD1 ENST00000520002 human ensembl 70_37 -1 known frame_shift_del c.5051 p.G1684fs 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CTNNA2 1496 genome.wustl.edu 37 2 80773162 80773162 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 80773162 80773162 C T SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.1616 p.S539L 0.994 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC DCAF6 55827 genome.wustl.edu 37 1 167973911 167973911 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 167973911 167973911 C G SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1258 p.Q420E 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC DDB1 1642 genome.wustl.edu 37 11 61084025 61084025 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 61084025 61084025 G A SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known missense c.1240 p.R414W 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC DENND5B 160518 genome.wustl.edu 37 12 31540647 31540647 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 31540647 31540647 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.3820 p.A1274T 1.000 pfam_Run,smart_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC DLGAP1 9229 genome.wustl.edu 37 18 3729211 3729211 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 3729211 3729211 G A SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known silent c.1515 p.D505 0.996 NULL pfam_GKAP - no_errors DLGAP1 HGNC DNAJC28 54943 genome.wustl.edu 37 21 34860889 34860889 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 34860889 34860889 C T SNP DNAJC28 ENST00000314399 human ensembl 70_37 -1 known missense c.812 p.R271K 0.997 pfam_DnaJ_homolog_subfam-C_membr-28 pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC28 HGNC DOK3 79930 genome.wustl.edu 37 5 176936488 176936488 + Silent SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 176936488 176936488 G T SNP DOK3 ENST00000357198 human ensembl 70_37 -1 known silent c.222 p.V74 0.495 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC DST 667 genome.wustl.edu 37 6 56468158 56468158 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 56468158 56468158 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10903 p.E3635K 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DTNA 1837 genome.wustl.edu 37 18 32443934 32443934 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 32443934 32443934 C T SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.1573 p.R525C 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC EIF5 1983 genome.wustl.edu 37 14 103806896 103806896 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 103806896 103806896 G A SNP EIF5 ENST00000216554 human ensembl 70_37 +1 known missense c.1204 p.E402K 1.000 NULL pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ELMO3 79767 genome.wustl.edu 37 16 67233630 67233630 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 67233630 67233630 G A SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known missense c.322 p.D108N 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 18844766 18844766 G A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.223 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000232856 0 genome.wustl.edu 37 7 132719526 132719526 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 132719526 132719526 C T SNP ENSG00000232856 ENST00000448615 human ensembl 70_37 -1 known silent c.462 p.P154 0.951 superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,pfscan_Transl_elong_EF1_G_con - no_errors hsa-mir-3654 miRBase ENSG00000266921 0 genome.wustl.edu 37 19 44503364 44503364 + RNA SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 44503364 44503364 G C SNP ENSG00000266921 ENST00000586860 human ensembl 70_37 -1 known rna NULL NULL 0.346 - - - no_errors RP11-15A1.7 Clone_based_vega_gene EPHB2 2048 genome.wustl.edu 37 1 23208941 23208941 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 23208941 23208941 G T SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.1393 p.V465L 0.987 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ESRP2 80004 genome.wustl.edu 37 16 68266312 68266312 + Nonsense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 68266312 68266312 G A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known nonsense c.946 p.Q316* 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ESRP2 80004 genome.wustl.edu 37 16 68266313 68266313 + Silent SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 68266313 68266313 C A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC FAM184A 79632 genome.wustl.edu 37 6 119345412 119345412 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 119345412 119345412 C A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.726 p.K242N 0.200 NULL superfamily_Prefoldin - no_errors FAM184A HGNC FAM5B 57795 genome.wustl.edu 37 1 177226388 177226388 + Silent SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 177226388 177226388 A T SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known silent c.537 p.I179 0.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC FAM63B 54629 genome.wustl.edu 37 15 59080149 59080149 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 59080149 59080149 G A SNP FAM63B ENST00000559228 human ensembl 70_37 +1 known silent c.885 p.L295 1.000 pfam_DUF544 pfam_DUF544 - no_errors FAM63B HGNC FAT2 2196 genome.wustl.edu 37 5 150887058 150887058 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 150887058 150887058 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.12174 p.F4058L 0.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FBN1 2200 genome.wustl.edu 37 15 48936854 48936854 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 48936854 48936854 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.113 p.R38K 0.967 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FZD1 8321 genome.wustl.edu 37 7 90894521 90894521 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 90894521 90894521 C G SNP FZD1 ENST00000287934 human ensembl 70_37 +1 known missense c.326 p.S109C 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC GALNTL6 442117 genome.wustl.edu 37 4 173942728 173942728 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 173942728 173942728 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known silent c.1590 p.L530 0.903 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC GANAB 23193 genome.wustl.edu 37 11 62397703 62397703 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 62397703 62397703 C T SNP GANAB ENST00000346178 human ensembl 70_37 -1 known nonsense c.1625 p.W542* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC GK 2710 genome.wustl.edu 37 X 30712558 30712558 + Nonstop_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 30712558 30712558 G C SNP GK ENST00000471362 human ensembl 70_37 +1 known nonstop c.272 p.*91S 1.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK HGNC GLYAT 10249 genome.wustl.edu 37 11 58477548 58477548 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 58477548 58477548 C T SNP GLYAT ENST00000344743 human ensembl 70_37 -1 known silent c.582 p.Q194 0.805 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC GPR112 139378 genome.wustl.edu 37 X 135429208 135429208 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 135429208 135429208 A G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.3343 p.R1115G 0.040 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR15 2838 genome.wustl.edu 37 3 98251163 98251163 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 98251163 98251163 C G SNP GPR15 ENST00000284311 human ensembl 70_37 +1 known missense c.286 p.L96V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors GPR15 HGNC GPR61 83873 genome.wustl.edu 37 1 110086927 110086927 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 110086927 110086927 A G SNP GPR61 ENST00000404129 human ensembl 70_37 +1 known missense c.1283 p.Q428R 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR61 HGNC GRIK5 2901 genome.wustl.edu 37 19 42507794 42507794 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 42507794 42507794 G T SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.2305 p.L769I 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC HEATR1 55127 genome.wustl.edu 37 1 236716983 236716983 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 236716983 236716983 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known silent c.6135 p.L2045 0.998 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HECW1 23072 genome.wustl.edu 37 7 43484575 43484575 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 43484575 43484575 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1804 p.E602K 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HEXB 3074 genome.wustl.edu 37 5 73981268 73981268 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 73981268 73981268 C T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known silent c.183 p.L61 0.000 NULL pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC HOXD4 3233 genome.wustl.edu 37 2 177016484 177016484 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 177016484 177016484 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.123 p.A41 0.073 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC HSPG2 3339 genome.wustl.edu 37 1 22202370 22202370 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 22202370 22202370 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3169 p.V1057L 0.998 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ICAM2 3384 genome.wustl.edu 37 17 62081145 62081145 + Nonsense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 62081145 62081145 C A SNP ICAM2 ENST00000412356 human ensembl 70_37 -1 known nonsense c.508 p.E170* 0.013 NULL pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC IL36B 27177 genome.wustl.edu 37 2 113788646 113788646 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 113788646 113788646 G C SNP IL36B ENST00000259213 human ensembl 70_37 -1 known missense c.100 p.L34V 0.000 superfamily_Cytokine_IL1-like superfamily_Cytokine_IL1-like - no_errors IL36B HGNC INVS 27130 genome.wustl.edu 37 9 103035180 103035180 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 103035180 103035180 C T SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1606 p.R536C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ITGA4 3676 genome.wustl.edu 37 2 182360122 182360122 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 182360122 182360122 C A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1364 p.S455Y 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC JAK2 3717 genome.wustl.edu 37 9 5080270 5080270 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 5080270 5080270 G A SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.2173 p.E725K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC KBTBD3 143879 genome.wustl.edu 37 11 105923634 105923634 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 105923634 105923634 G A SNP KBTBD3 ENST00000526793 human ensembl 70_37 -1 known silent c.1782 p.C594 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC KCNH6 81033 genome.wustl.edu 37 17 61611355 61611355 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 61611355 61611355 C T SNP KCNH6 ENST00000583023 human ensembl 70_37 +1 known missense c.784 p.L262F 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC KDM2A 22992 genome.wustl.edu 37 11 66975079 66975079 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 66975079 66975079 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KIAA0319 9856 genome.wustl.edu 37 6 24569028 24569028 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 24569028 24569028 G A SNP KIAA0319 ENST00000378214 human ensembl 70_37 -1 known silent c.2121 p.L707 0.821 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC KIAA0556 23247 genome.wustl.edu 37 16 27761023 27761023 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 27761023 27761023 C G SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.2742 p.I914M 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIF3B 9371 genome.wustl.edu 37 20 30898811 30898811 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 30898811 30898811 G T SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.1231 p.D411Y 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC KPRP 448834 genome.wustl.edu 37 1 152732421 152732421 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 152732421 152732421 C T SNP KPRP ENST00000368773 human ensembl 70_37 +1 known silent c.357 p.Y119 0.064 NULL NULL - no_errors KPRP HGNC KRT28 162605 genome.wustl.edu 37 17 38950265 38950265 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 38950265 38950265 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1012 p.E338K 0.992 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC KRT34 3885 genome.wustl.edu 37 17 39537389 39537389 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 39537389 39537389 C G SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known silent c.633 p.L211 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC LCAT 3931 genome.wustl.edu 37 16 67974269 67974269 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 67974269 67974269 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.861 p.H287 0.271 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC LCLAT1 253558 genome.wustl.edu 37 2 30863168 30863168 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 30863168 30863168 G A SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known missense c.928 p.E310K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC LCLAT1 253558 genome.wustl.edu 37 2 30863174 30863174 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 30863174 30863174 G A SNP LCLAT1 ENST00000309052 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC LILRB5 10990 genome.wustl.edu 37 19 54754901 54754901 + Silent SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 54754901 54754901 T C SNP LILRB5 ENST00000450632 human ensembl 70_37 -1 known silent c.1734 p.A578 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC LOC440993 440993 genome.wustl.edu 37 3 195412596 195412596 + RNA SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 195412596 195412596 A G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069513.3 Clone_based_vega_gene LOC442028 442028 genome.wustl.edu 37 2 95552784 95552784 + RNA SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 95552784 95552784 G T SNP LOC442028 ENST00000582835 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC097374.2 Clone_based_vega_gene LPAR1 1902 genome.wustl.edu 37 9 113704217 113704217 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 113704217 113704217 C A SNP LPAR1 ENST00000538760 human ensembl 70_37 -1 known missense c.280 p.A94S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC MAG 4099 genome.wustl.edu 37 19 35793405 35793405 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 35793405 35793405 C T SNP MAG ENST00000392213 human ensembl 70_37 +1 known missense c.1025 p.T342M 0.863 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MAG HGNC MARCH6 10299 genome.wustl.edu 37 5 10415612 10415612 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 10415612 10415612 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC MFF 56947 genome.wustl.edu 37 2 228221826 228221826 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 228221826 228221826 G C SNP MFF ENST00000353339 human ensembl 70_37 +1 known missense c.1022 p.R341P 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC KMT2D 8085 genome.wustl.edu 37 12 49438040 49438040 + Nonsense_Mutation SNP T T A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 49438040 49438040 T A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.5131 p.K1711* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MMP8 4317 genome.wustl.edu 37 11 102589172 102589172 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 102589172 102589172 C T SNP MMP8 ENST00000236826 human ensembl 70_37 -1 known missense c.757 p.D253N 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP8 HGNC MNS1 55329 genome.wustl.edu 37 15 56748599 56748599 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 56748599 56748599 C G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.346 p.E116Q 1.000 NULL NULL - no_errors MNS1 HGNC MOCOS 55034 genome.wustl.edu 37 18 33779772 33779772 + Silent SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 33779772 33779772 G C SNP MOCOS ENST00000261326 human ensembl 70_37 +1 known silent c.426 p.G142 0.991 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC MRGPRX1 259249 genome.wustl.edu 37 11 18956110 18956110 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 18956110 18956110 G A SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known silent c.222 p.L74 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC MUC6 4588 genome.wustl.edu 37 11 1018394 1018394 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 1018394 1018394 C G SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.4407 p.Q1469H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77862415 77862415 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 13 77862415 77862415 G C SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.475 p.L159V 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC NACC1 112939 genome.wustl.edu 37 19 13246773 13246773 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 13246773 13246773 G A SNP NACC1 ENST00000292431 human ensembl 70_37 +1 known missense c.752 p.G251D 0.010 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC NCAM2 4685 genome.wustl.edu 37 21 22710717 22710717 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 22710717 22710717 C G SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.907 p.H303D 1.000 pfscan_Ig-like,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 178098960 178098960 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NOL4 8715 genome.wustl.edu 37 18 31432886 31432886 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 18 31432886 31432886 C A SNP NOL4 ENST00000261592 human ensembl 70_37 -1 known missense c.1837 p.V613F 0.999 NULL NULL - no_errors NOL4 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139399887 139399887 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139399887 139399887 C G SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4461 p.W1487C 1.000 smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139400124 139400124 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139400124 139400124 C A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4224 p.E1408D 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139400126 139400126 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139400126 139400126 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4222 p.E1408K 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139401856 139401856 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 139401856 139401856 C G SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.3544 p.E1182Q 0.998 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NPR1 4881 genome.wustl.edu 37 1 153660530 153660530 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 153660530 153660530 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.2250 p.E750 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NT5C1B 93034 genome.wustl.edu 37 2 18765969 18765969 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 18765969 18765969 C T SNP NT5C1B ENST00000406971 human ensembl 70_37 -1 known missense c.467 p.R156H 0.000 NULL NULL - no_errors NT5C1B HGNC NUDT9 53343 genome.wustl.edu 37 4 88356180 88356180 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 88356180 88356180 C T SNP NUDT9 ENST00000302174 human ensembl 70_37 +1 known missense c.155 p.S52F 0.960 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT9 HGNC OLA1 29789 genome.wustl.edu 37 2 175094076 175094076 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 175094076 175094076 C T SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known missense c.205 p.E69K 1.000 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC OXNAD1 92106 genome.wustl.edu 37 3 16313177 16313177 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 16313177 16313177 C T SNP OXNAD1 ENST00000544043 human ensembl 70_37 +1 known missense c.185 p.S62F 1.000 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC PCSK7 9159 genome.wustl.edu 37 11 117079626 117079626 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 117079626 117079626 G C SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.1678 p.R560G 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PDE3A 5139 genome.wustl.edu 37 12 20709614 20709614 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 20709614 20709614 G T SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.981 p.W327C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDS5A 23244 genome.wustl.edu 37 4 39924314 39924314 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 39924314 39924314 G A SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC PHF14 9678 genome.wustl.edu 37 7 11053396 11053396 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 11053396 11053396 G A SNP PHF14 ENST00000403050 human ensembl 70_37 +1 known silent c.1068 p.E356 0.993 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC PHKA2 5256 genome.wustl.edu 37 X 18924858 18924858 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 18924858 18924858 G A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.2672 p.T891M 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PIK3R4 30849 genome.wustl.edu 37 3 130399528 130399528 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 3 130399528 130399528 C T SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known missense c.3835 p.V1279I 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC PKN3 29941 genome.wustl.edu 37 9 131476384 131476384 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 131476384 131476384 C G SNP PKN3 ENST00000291906 human ensembl 70_37 +1 known missense c.1296 p.I432M 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC PPIAL4A 653505 genome.wustl.edu 37 1 147955236 147955236 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 147955236 147955236 G A SNP PPIAL4A ENST00000539781 human ensembl 70_37 -1 known missense c.109 p.R37C 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC PRAMEF4 400735 genome.wustl.edu 37 1 12939661 12939661 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 12939661 12939661 C G SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.1141 p.E381Q 0.010 NULL NULL - no_errors PRAMEF4 HGNC PTPN13 5783 genome.wustl.edu 37 4 87653763 87653763 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 4 87653763 87653763 G A SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1702 p.E568K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,smart_Band_41_domain pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPRN 5798 genome.wustl.edu 37 2 220154978 220154978 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220154978 220154978 C T SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known silent c.2910 p.V970 1.000 smart_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC PTPRN 5798 genome.wustl.edu 37 2 220164721 220164721 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220164721 220164721 G A SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known silent c.1422 p.I474 0.984 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC PUM1 9698 genome.wustl.edu 37 1 31437722 31437722 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 31437722 31437722 C T SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.2122 p.D708N 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC RAPH1 65059 genome.wustl.edu 37 2 204304738 204304738 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 204304738 204304738 C A SNP RAPH1 ENST00000374493 human ensembl 70_37 -1 known missense c.3331 p.D1111Y 0.995 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC RASAL3 64926 genome.wustl.edu 37 19 15562617 15562617 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 15562617 15562617 C T SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.3025 p.D1009N 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC RFC2 5982 genome.wustl.edu 37 7 73657531 73657531 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 7 73657531 73657531 G A SNP RFC2 ENST00000055077 human ensembl 70_37 -1 known silent c.480 p.I160 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC RHOT2 89941 genome.wustl.edu 37 16 721776 721776 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 721776 721776 G A SNP RHOT2 ENST00000315082 human ensembl 70_37 +1 known missense c.949 p.D317N 1.000 pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2 - no_errors RHOT2 HGNC RNF213 57674 genome.wustl.edu 37 17 78318498 78318498 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 78318498 78318498 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.6363 p.F2121 0.382 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78318661 78318661 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 78318661 78318661 C G SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.6526 p.Q2176E 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RYR2 6262 genome.wustl.edu 37 1 237777446 237777446 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 237777446 237777446 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5012 p.A1671V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SEC14L4 284904 genome.wustl.edu 37 22 30890922 30890922 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 30890922 30890922 C G SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known silent c.450 p.L150 0.974 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC SEMA5A 9037 genome.wustl.edu 37 5 9122803 9122803 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 9122803 9122803 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known silent c.1746 p.C582 0.023 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC SERF2 10169 genome.wustl.edu 37 15 44092974 44092974 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 44092974 44092974 C T SNP SERF2 ENST00000594896 human ensembl 70_37 +1 known silent c.316 p.L106 0.532 NULL NULL - no_errors SERF2 HGNC SGPL1 8879 genome.wustl.edu 37 10 72637064 72637064 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 72637064 72637064 A G SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.1679 p.Q560R 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC SH2D4A 63898 genome.wustl.edu 37 8 19250842 19250842 + Silent SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 19250842 19250842 C G SNP SH2D4A ENST00000265807 human ensembl 70_37 +1 known silent c.1062 p.L354 0.015 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC SIGLEC16 400709 genome.wustl.edu 37 19 50475333 50475333 + RNA SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 50475333 50475333 C T SNP SIGLEC16 ENST00000602139 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC SIRPD 128646 genome.wustl.edu 37 20 1532442 1532442 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 20 1532442 1532442 C T SNP SIRPD ENST00000381621 human ensembl 70_37 -1 known missense c.316 p.E106K 0.003 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIRPD HGNC SLC19A1 6573 genome.wustl.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 21 46951916 46951918 CAG - DEL SLC19A1 ENST00000311124 human ensembl 70_37 -1 known in_frame_del c.336_334 p.L112in_frame_del 0.002:0.005:0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC SLC25A3 5250 genome.wustl.edu 37 12 98995213 98995213 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 98995213 98995213 C G SNP SLC25A3 ENST00000228318 human ensembl 70_37 +1 known missense c.996 p.I332M 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 - no_errors SLC25A3 HGNC SLC25A3 5250 genome.wustl.edu 37 12 98995275 98995275 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 12 98995275 98995275 C G SNP SLC25A3 ENST00000228318 human ensembl 70_37 +1 known missense c.1058 p.S353C 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC SLC37A2 219855 genome.wustl.edu 37 11 124955860 124955860 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 124955860 124955860 G A SNP SLC37A2 ENST00000308074 human ensembl 70_37 +1 known missense c.1436 p.R479Q 0.996 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC SMEK2 57223 genome.wustl.edu 37 2 55842570 55842570 + RNA SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 55842570 55842570 G C SNP SMEK2 ENST00000477749 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SMEK2 HGNC SOBP 55084 genome.wustl.edu 37 6 107908338 107908338 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 107908338 107908338 G A SNP SOBP ENST00000317357 human ensembl 70_37 +1 known missense c.628 p.E210K 1.000 NULL NULL - no_errors SOBP HGNC CAPN15 6650 genome.wustl.edu 37 16 602965 602965 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 602965 602965 G A SNP SOLH ENST00000219611 human ensembl 70_37 +1 known missense c.3007 p.D1003N 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC SP3 6670 genome.wustl.edu 37 2 174774691 174774691 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 174774691 174774691 G A SNP SP3 ENST00000310015 human ensembl 70_37 -1 known missense c.2324 p.S775F 1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC SPEG 10290 genome.wustl.edu 37 2 220354509 220354509 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 220354509 220354509 G T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.8769 p.E2923D 0.995 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC SSX5 6758 genome.wustl.edu 37 X 48047122 48047122 + Missense_Mutation SNP C C A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 48047122 48047122 C A SNP SSX5 ENST00000311798 human ensembl 70_37 -1 known missense c.635 p.R212I 0.003 pfam_SSXRD_motif pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC STAMBP 10617 genome.wustl.edu 37 2 74077619 74077619 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 74077619 74077619 C T SNP STAMBP ENST00000339566 human ensembl 70_37 +1 known silent c.984 p.L328 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBP HGNC STXBP4 252983 genome.wustl.edu 37 17 53077096 53077096 + Nonsense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 17 53077096 53077096 G T SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known nonsense c.391 p.G131* 0.003 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC STXBP6 29091 genome.wustl.edu 37 14 25326285 25326285 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 25326285 25326285 G A SNP STXBP6 ENST00000323944 human ensembl 70_37 -1 known missense c.233 p.S78L 1.000 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC TARSL2 123283 genome.wustl.edu 37 15 102244135 102244135 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 15 102244135 102244135 C T SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.1001 p.G334D 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TCTE1 202500 genome.wustl.edu 37 6 44254102 44254102 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 44254102 44254102 C T SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known missense c.445 p.G149S 0.236 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC TENM4 26011 genome.wustl.edu 37 11 78381424 78381424 + Missense_Mutation SNP A A G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 78381424 78381424 A G SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.5966 p.I1989T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TFAP2A 7020 genome.wustl.edu 37 6 10404765 10404765 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 6 10404765 10404765 G A SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.740 p.S247L 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC TINF2 26277 genome.wustl.edu 37 14 24711514 24711514 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 24711514 24711514 G A SNP TINF2 ENST00000267415 human ensembl 70_37 -1 known missense c.25 p.P9S 0.017 NULL NULL - no_errors TINF2 HGNC TMEM55A 55529 genome.wustl.edu 37 8 92020971 92020972 + Frame_Shift_Ins INS - - T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 8 92020971 92020972 - T INS TMEM55A ENST00000285419 human ensembl 70_37 -1 known frame_shift_ins c.539_538 p.I180fs 1.000:1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC TRPC7 57113 genome.wustl.edu 37 5 135692672 135692672 + Missense_Mutation SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 5 135692672 135692672 T C SNP TRPC7 ENST00000513104 human ensembl 70_37 -1 known missense c.404 p.Q135R 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC TRPM6 140803 genome.wustl.edu 37 9 77353418 77353418 + Missense_Mutation SNP A A T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 77353418 77353418 A T SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.5693 p.I1898N 0.996 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TTLL1 25809 genome.wustl.edu 37 22 43464472 43464472 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 43464472 43464472 G C SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.447 p.F149L 0.936 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC TTLL1 25809 genome.wustl.edu 37 22 43464588 43464588 + Missense_Mutation SNP G G C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 22 43464588 43464588 G C SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.331 p.P111A 0.999 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC TTN 7273 genome.wustl.edu 37 2 179393094 179393094 + Nonsense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 179393094 179393094 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.99580 p.R33194* 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179499165 179499165 + Missense_Mutation SNP G G T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 2 179499165 179499165 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.34639 p.Q11547K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC USP1 7398 genome.wustl.edu 37 1 62916624 62916624 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 62916624 62916624 C T SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.2330 p.P777L 1.000 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC WDR3 10885 genome.wustl.edu 37 1 118477108 118477108 + Nonsense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 118477108 118477108 C T SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known nonsense c.184 p.Q62* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR65 149465 genome.wustl.edu 37 1 43663242 43663242 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 1 43663242 43663242 G A SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.1141 p.E381K 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC YLPM1 56252 genome.wustl.edu 37 14 75266402 75266402 + Splice_Site SNP T T C TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 75266402 75266402 T C SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known splice_site c.4400+2 e5+2 1.000 - - - no_errors YLPM1 Uniprot_genename ZCCHC6 79670 genome.wustl.edu 37 9 88916323 88916323 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 9 88916323 88916323 C T SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.4288 p.E1430K 1.000 superfamily_Znf_CCHC pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ZNF100 163227 genome.wustl.edu 37 19 21910654 21910654 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 21910654 21910654 C T SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.460 p.E154K 0.034 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 ZNF100 HGNC ZNF143 7702 genome.wustl.edu 37 11 9494253 9494253 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 11 9494253 9494253 G A SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.142 p.V48I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ZNF157 7712 genome.wustl.edu 37 X 47272358 47272358 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 47272358 47272358 C G SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.886 p.H296D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ZNF219 51222 genome.wustl.edu 37 14 21560966 21560966 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 14 21560966 21560966 G A SNP ZNF219 ENST00000360947 human ensembl 70_37 -1 known missense c.490 p.R164C 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept - no_errors ZNF219 HGNC ZNF518A 9849 genome.wustl.edu 37 10 97919065 97919065 + RNA SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 10 97919065 97919065 G A SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors ZNF518A HGNC ZNF646 9726 genome.wustl.edu 37 16 31091077 31091077 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 16 31091077 31091077 G A SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.3432 p.P1144 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF711 7552 genome.wustl.edu 37 X 84525754 84525754 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 X 84525754 84525754 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.1230 p.M410I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ZNF826P 664701 genome.wustl.edu 37 19 20519792 20519792 + RNA SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a31ce2af-48b0-4a05-b99a-79ae57d8ba6c b7c6b71d-1fa6-41bb-a7af-565e18048458 19 20519792 20519792 C T SNP ZNF826P ENST00000541160 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF826P HGNC