Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF 101928503 0 genome.wustl.edu 37 17 15468910 15468910 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 15468910 15468910 A G SNP 101928503 ENST00000312127 human ensembl 74_37 -1 known silent c.669 p.I223 0.612 NULL NULL - no_errors CDRT1 Uniprot_gn ENSG00000181464 tier1 - - 65 0 0.00 60 22 26.83 AARD 0 genome.wustl.edu 37 8 117950628 117950628 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 117950628 117950628 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.146 p.A49V 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 tier1 - - 58 0 0.00 25 13 34.21 ABCA1 0 genome.wustl.edu 37 9 107568537 107568537 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 107568537 107568537 C - DEL ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_del c.4449 p.L1484fs 0.665 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 97 0 0.00 79 50 38.76 ABCA7 0 genome.wustl.edu 37 19 1052095 1052095 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 1052095 1052095 G T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3117 p.K1039N 0.720 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 62 0 0.00 18 9 33.33 ABCB1 0 genome.wustl.edu 37 7 87175277 87175277 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 87175277 87175277 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1789 p.V597I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 rs199931362 - 91 0 0.00 54 16 22.86 ABCC8 0 genome.wustl.edu 37 11 17426065 17426065 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 17426065 17426065 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3554 p.A1185V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 123 0 0.00 56 26 31.71 ACAA2 0 genome.wustl.edu 37 18 47317840 47317840 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 47317840 47317840 C G SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.883 p.G295R 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 tier1 - - 107 0 0.00 34 30 46.88 ACAN 0 genome.wustl.edu 37 15 89382100 89382100 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 89382100 89382100 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.277 p.R93C 0.722 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 160 0 0.00 99 50 33.56 ACE 0 genome.wustl.edu 37 17 61559975 61559975 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 61559975 61559975 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.1267 p.V423M 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 tier1 rs148018765 - 221 0 0.00 143 53 27.04 ACRC 0 genome.wustl.edu 37 X 70824237 70824237 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 70824237 70824237 T C SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.1110 p.A370 0.001 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 - - 12 0 0.00 10 14 58.33 ACSS1 0 genome.wustl.edu 37 20 25011398 25011398 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 25011398 25011398 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.628 p.D210N 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 102 0 0.00 71 37 34.26 ACTR5 0 genome.wustl.edu 37 20 37400378 37400378 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 37400378 37400378 G C SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1743 p.K581N 1.000 NULL pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 tier1 - - 50 0 0.00 32 11 25.58 ACVR1 0 genome.wustl.edu 37 2 158636922 158636922 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 158636922 158636922 G A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known silent c.258 p.S86 0.947 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 tier1 - - 118 0 0.00 62 37 37.37 ACVR1B 0 genome.wustl.edu 37 12 52378996 52378996 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52378996 52378996 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 54 0 0.00 27 12 30.77 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 89 0 0.00 59 60 50.42 ADAM18 0 genome.wustl.edu 37 8 39468186 39468186 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 39468186 39468186 G T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.483 p.W161C 0.445 NULL 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_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 56 0 0.00 28 18 39.13 ADAM22 0 genome.wustl.edu 37 7 87760779 87760779 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 87760779 87760779 T - DEL ADAM22 ENST00000439864 human ensembl 74_37 +1 putative frame_shift_del c.1021 p.*343fs 0.001 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfscan_Peptidase_M12B - no_errors ADAM22 HGNC ENSG00000008277 tier1 30 0 0.00 34 3 8.11 ADAM23 0 genome.wustl.edu 37 2 207460861 207460861 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 207460861 207460861 C - DEL ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K781fs 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 23 0 0.00 33 3 8.33 ADAM33 0 genome.wustl.edu 37 20 3650014 3650014 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 3650014 3650014 G T SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.2336 p.P779H 0.000 NULL 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 ADAM33 HGNC ENSG00000149451 tier1 - - 36 0 0.00 15 8 34.78 ADAMTS14 0 genome.wustl.edu 37 10 72511302 72511302 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 72511302 72511302 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.2505 p.L835 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 124 0 0.00 69 29 29.59 ADAMTS17 0 genome.wustl.edu 37 15 100636647 100636647 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 100636647 100636647 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2051 p.A684V 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 195 0 0.00 129 70 35.18 ADAMTS2 0 genome.wustl.edu 37 5 178770985 178770985 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 178770985 178770985 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.317 p.G106D 0.763 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 70 0 0.00 68 10 12.82 ADAMTS7 0 genome.wustl.edu 37 15 79092655 79092655 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 79092655 79092655 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.335 p.R112Q 0.740 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 tier1 - - 32 0 0.00 13 14 51.85 ADCY2 0 genome.wustl.edu 37 5 7709437 7709437 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 7709437 7709437 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.1515 p.K505 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 43 0 0.00 31 10 24.39 ADORA3 0 genome.wustl.edu 37 1 112029227 112029227 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 112029227 112029227 G A SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.853 p.R285C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 tier1 - - 39 0 0.00 29 10 25.64 AHNAK2 0 genome.wustl.edu 37 14 105417838 105417838 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 105417838 105417838 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3950 p.A1317V 0.083 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 455 0 0.00 142 130 47.79 AIM2 0 genome.wustl.edu 37 1 159035718 159035718 + Silent SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 159035718 159035718 A C SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known silent c.798 p.G266 0.001 pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 - - 114 0 0.00 70 21 23.08 AKAP17A 0 genome.wustl.edu 37 X 1720221 1720221 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 1720221 1720221 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.1822 p.R608W 0.005 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 tier1 - - 34 0 0.00 14 6 28.57 AKR1A1 0 genome.wustl.edu 37 1 46032346 46032346 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46032346 46032346 G A SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known missense c.190 p.V64M 0.975 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 tier1 - - 209 0 0.00 129 53 29.12 ALDH1L1 0 genome.wustl.edu 37 3 125877315 125877315 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 125877315 125877315 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.295 p.R99W 0.088 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 20 0 0.00 18 14 43.75 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 tier1 27 0 0.00 24 12 33.33 ALKBH4 0 genome.wustl.edu 37 7 102100207 102100207 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 102100207 102100207 G A SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known silent c.165 p.A55 0.015 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 tier1 rs149560901 - 161 0 0.00 125 36 22.22 ALMS1 0 genome.wustl.edu 37 2 73676814 73676814 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 73676814 73676814 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3157 p.E1053K 0.028 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 195 0 0.00 147 59 28.64 AMPD2 0 genome.wustl.edu 37 1 110168017 110168017 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 110168017 110168017 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.346 p.R116C 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 tier1 - - 198 0 0.00 133 53 28.49 AMPD2 0 genome.wustl.edu 37 1 110169390 110169390 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 110169390 110169390 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.736 p.R246W 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 tier1 - - 170 0 0.00 148 9 5.73 AMPD3 0 genome.wustl.edu 37 11 10503704 10503704 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 10503704 10503704 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.521 p.P174L 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 tier1 - - 167 0 0.00 99 60 37.74 AMY2B 0 genome.wustl.edu 37 1 104117947 104117947 + Silent SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 104117947 104117947 T A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known silent c.981 p.I327 0.994 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 309 0 0.00 355 24 6.33 ANKRD28 0 genome.wustl.edu 37 3 15736300 15736300 + Silent SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 15736300 15736300 T G SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known silent c.1716 p.T572 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 tier1 - - 83 0 0.00 73 31 29.81 ANKRD44 0 genome.wustl.edu 37 2 197860118 197860118 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 197860118 197860118 T - DEL ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_del c.2741 p.N914fs 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 38 0 0.00 24 8 25.00 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 15 0 0.00 14 3 17.65 ANXA8L2 0 genome.wustl.edu 37 10 47756087 47756087 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 47756087 47756087 G A SNP ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known missense c.547 p.A183T 1.000 pfam_Annexin_repeat,prints_AnnexinVIII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 tier1 rs138417320 - 324 0 0.00 208 50 19.31 AP2A1 0 genome.wustl.edu 37 19 50285894 50285894 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 50285894 50285894 G C SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.386 p.C129S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 37 0 0.00 21 8 27.59 AP4M1 0 genome.wustl.edu 37 7 99702674 99702674 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99702674 99702674 G A SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.680 p.R227H 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 tier1 - - 127 0 0.00 98 19 16.24 APBA1 0 genome.wustl.edu 37 9 72067121 72067121 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 72067121 72067121 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1885 p.K629E 1.000 superfamily_PDZ,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 155 0 0.00 134 51 27.57 AQR 0 genome.wustl.edu 37 15 35152260 35152260 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 35152260 35152260 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.4126 p.T1376A 0.964 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 74 0 0.00 54 20 26.67 ARAP1 0 genome.wustl.edu 37 11 72415278 72415278 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 72415278 72415278 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.1911 p.R637 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 tier1 - - 64 0 0.00 32 8 20.00 ARAP2 0 genome.wustl.edu 37 4 36230286 36230286 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 36230286 36230286 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.823 p.V275I 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 70 0 0.00 38 29 43.28 AREL1 0 genome.wustl.edu 37 14 75142935 75142935 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 75142935 75142935 G A SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known silent c.741 p.L247 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 tier1 - - 101 0 0.00 39 36 48.00 ARHGAP24 0 genome.wustl.edu 37 4 86898779 86898779 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 86898779 86898779 T C SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.863 p.L288S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 45 0 0.00 19 16 45.71 ARHGAP28 0 genome.wustl.edu 37 18 6837354 6837354 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 6837354 6837354 A - DEL ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known frame_shift_del c.484 p.K163fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 75 0 0.00 55 8 12.70 ARID1A 0 genome.wustl.edu 37 1 27099980 27099981 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 27099980 27099981 AG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3859_3860 p.R1287fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 40 0 0.00 34 9 20.93 ARID1A 0 genome.wustl.edu 37 1 27100175 27100176 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 27100175 27100176 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3971_3972 p.Q1327fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 137 0 0.00 82 36 30.51 ASAP1 0 genome.wustl.edu 37 8 131073267 131073267 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 131073267 131073267 G A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2750 p.P917L 0.949 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 205 0 0.00 153 58 27.49 ASAP3 0 genome.wustl.edu 37 1 23763504 23763504 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 23763504 23763504 A T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.1376 p.L459H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 tier1 - - 41 0 0.00 27 4 12.90 ASIC5 0 genome.wustl.edu 37 4 156775279 156775279 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 156775279 156775279 T C SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.535 p.N179D 0.012 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 106 0 0.00 27 28 50.91 ASMTL 0 genome.wustl.edu 37 X 1522323 1522323 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 1522323 1522323 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.1705 p.A569T 0.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 tier1 - - 164 0 0.00 139 37 21.02 ASPM 0 genome.wustl.edu 37 1 197091175 197091176 + Splice_Site INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 197091175 197091176 - A INS ASPM ENST00000367409 human ensembl 74_37 -1 known splice_site_ins c.3742-3_3742-2 e16-2 1.000:0.990 - - - no_errors ASPM HGNC ENSG00000066279 tier1 23 0 0.00 20 6 23.08 ATG2B 0 genome.wustl.edu 37 14 96761339 96761339 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 96761339 96761339 G T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5384 p.S1795Y 0.221 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 115 0 0.00 75 11 12.79 ATN1 0 genome.wustl.edu 37 12 7045879 7045879 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 7045879 7045879 C T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1449 p.H483 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 421 0 0.00 269 88 24.58 ATN1 0 genome.wustl.edu 37 12 7045882 7045882 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 7045882 7045882 G C SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1452 p.Q484H 0.993 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 403 0 0.00 254 86 25.15 ATN1 0 genome.wustl.edu 37 12 7045885 7045885 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 7045885 7045885 A C SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1455 p.Q485H 0.049 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 391 0 0.00 248 74 22.63 ATP2B1 0 genome.wustl.edu 37 12 90036054 90036054 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 90036054 90036054 T C SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.287 p.K96R 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 tier1 - - 424 0 0.00 324 136 29.57 ATP2B3 0 genome.wustl.edu 37 X 152830541 152830541 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 152830541 152830541 C A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3322 p.L1108M 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 10 0 0.00 2 4 66.67 ATP6V1C2 0 genome.wustl.edu 37 2 10904508 10904508 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 10904508 10904508 C A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.335 p.P112H 0.976 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 tier1 - - 77 0 0.00 77 35 31.25 ATR 0 genome.wustl.edu 37 3 142168422 142168422 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 142168422 142168422 A C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7784 p.I2595S 0.999 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 41 0 0.00 29 18 38.30 ATRNL1 0 genome.wustl.edu 37 10 117486773 117486773 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 117486773 117486773 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known nonsense c.3811 p.R1271* 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 47 0 0.00 27 16 37.21 ATXN1 0 genome.wustl.edu 37 6 16327822 16327823 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 16327822 16327823 - G INS ATXN1 ENST00000244769 human ensembl 74_37 -1 known frame_shift_ins c.720_719 p.P241fs 0.916:0.954 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 16 0 0.00 10 6 37.50 AXIN1 0 genome.wustl.edu 37 16 396788 396788 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 396788 396788 G T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.238 p.P80T 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 - - 40 0 0.00 19 10 34.48 AXL 0 genome.wustl.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 41743932 41743933 - C INS AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_ins c.867_868 p.H291fs 0.982:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 199 0 0.00 124 32 20.51 B3GALNT2 0 genome.wustl.edu 37 1 235643314 235643314 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 235643314 235643314 G A SNP B3GALNT2 ENST00000494378 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors B3GALNT2 HGNC ENSG00000162885 tier1 - - 21 0 0.00 14 7 33.33 B3GAT1 0 genome.wustl.edu 37 11 134253718 134253718 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 134253718 134253718 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known silent c.516 p.R172 0.693 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 16 0 0.00 10 5 33.33 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 tier1 114 0 0.00 83 31 27.19 BBS7 0 genome.wustl.edu 37 4 122770017 122770017 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 122770017 122770017 C T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.916 p.V306M 0.199 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 tier1 - - 108 0 0.00 83 18 17.82 BCAN 0 genome.wustl.edu 37 1 156622647 156622647 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 156622647 156622647 C T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.1905 p.S635 0.994 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 tier1 - - 119 0 0.00 63 32 33.68 BCAT2 0 genome.wustl.edu 37 19 49303320 49303320 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49303320 49303320 C A SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.449 p.R150L 0.877 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 tier1 - - 84 0 0.00 64 24 27.27 BCL2L1 0 genome.wustl.edu 37 20 30253768 30253768 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 30253768 30253768 A T SNP BCL2L1 ENST00000307677 human ensembl 74_37 -1 known missense c.686 p.L229H 0.995 tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX - no_errors BCL2L1 HGNC ENSG00000171552 tier1 - - 92 0 0.00 44 28 38.36 BCL2L11 0 genome.wustl.edu 37 2 111907683 111907683 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 111907683 111907683 C T SNP BCL2L11 ENST00000393256 human ensembl 74_37 +1 known missense c.457 p.R153W 1.000 pfam_Bcl-x_interacting_BH3_dom,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 tier1 rs146318804 - 51 0 0.00 40 10 20.00 BCL2L13 0 genome.wustl.edu 37 22 18178890 18178891 + RNA INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 18178890 18178891 - A INS BCL2L13 ENST00000479296 human ensembl 74_37 +1 putative rna NULL NULL 1.000:0.999 - - - no_errors BCL2L13 HGNC ENSG00000099968 tier1 52 0 0.00 38 8 17.39 BCOR 0 genome.wustl.edu 37 X 39933723 39933723 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 39933723 39933723 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known silent c.876 p.G292 0.319 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 10 0 0.00 3 6 66.67 BCORL1 0 genome.wustl.edu 37 X 129148971 129148971 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 129148971 129148971 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2223 p.R743fs 0.984 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 51 0 0.00 24 25 51.02 BLM 0 genome.wustl.edu 37 15 91303326 91303327 + Frame_Shift_Del DEL TT TT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 91303326 91303327 TT - DEL BLM ENST00000559724 human ensembl 74_37 +1 known frame_shift_del c.1203_1204 p.F405fs 0.021:0.016 NULL NULL - no_errors BLM HGNC ENSG00000197299 tier1 8 0 0.00 5 3 37.50 BMPR2 0 genome.wustl.edu 37 2 203420622 203420623 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 203420622 203420623 - C INS BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_ins c.2234_2235 p.K747fs 1.000:0.644 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 tier1 89 0 0.00 72 34 32.08 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 140 0 0.00 96 30 23.81 BRCA2 0 genome.wustl.edu 37 13 32954023 32954023 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 32954023 32954023 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.9090 p.T3033fs 0.323 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 27 0 0.00 8 13 61.90 BRCA2 0 genome.wustl.edu 37 13 32972745 32972745 + Silent SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 32972745 32972745 C G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.10095 p.V3365 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 30 0 0.00 26 4 10.81 BTBD11 0 genome.wustl.edu 37 12 108051422 108051422 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 108051422 108051422 A G SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3242 p.Q1081R 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 98 0 0.00 67 31 31.63 C10orf12 0 genome.wustl.edu 37 10 98743878 98743878 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 98743878 98743878 G A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.2731 p.A911T 0.328 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 tier1 - - 102 0 0.00 70 38 35.19 C16orf62 0 genome.wustl.edu 37 16 19702725 19702727 + In_Frame_Del DEL AAC AAC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 19702725 19702727 AAC - DEL C16orf62 ENST00000438132 human ensembl 74_37 +1 known in_frame_del c.2845_2847 p.N950in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 50 0 0.00 31 11 26.19 C16orf71 0 genome.wustl.edu 37 16 4790590 4790590 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 4790590 4790590 C T SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.713 p.A238V 0.000 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 tier1 - - 78 0 0.00 58 15 20.55 C17orf97 0 genome.wustl.edu 37 17 263351 263351 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 263351 263351 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known silent c.717 p.P239 0.005 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 tier1 - - 76 0 0.00 31 24 43.64 C19orf35 0 genome.wustl.edu 37 19 2278643 2278643 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 2278643 2278643 G A SNP C19orf35 ENST00000342063 human ensembl 74_37 -1 known silent c.552 p.D184 0.359 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 tier1 - - 69 0 0.00 25 11 30.56 C2 0 genome.wustl.edu 37 6 31913271 31913271 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 31913271 31913271 G A SNP C2 ENST00000468407 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C2 HGNC ENSG00000166278 tier1 - - 10 0 0.00 6 4 40.00 C2orf16 0 genome.wustl.edu 37 2 27803854 27803854 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27803854 27803854 G T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4415 p.G1472V 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 tier1 - - 207 0 0.00 204 18 8.11 C4orf21 0 genome.wustl.edu 37 4 113539372 113539373 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 113539372 113539373 AG - DEL C4orf21 ENST00000505019 human ensembl 74_37 -1 known frame_shift_del c.1826_1825 p.L609fs 0.009:0.013 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 115 0 0.00 68 20 22.73 C6orf222 0 genome.wustl.edu 37 6 36298206 36298206 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 36298206 36298206 C T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.262 p.E88K 0.840 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 tier1 rs139083096 - 120 0 0.00 86 33 27.73 C9orf78 0 genome.wustl.edu 37 9 132596001 132596002 + RNA DEL AA AA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 132596001 132596002 AA - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115:0.039 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 20 0 0.00 18 7 28.00 CA9 0 genome.wustl.edu 37 9 35676313 35676313 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 35676313 35676313 G A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.767 p.S256N 0.996 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 tier1 - - 375 0 0.00 281 103 26.82 CABLES2 0 genome.wustl.edu 37 20 60971440 60971440 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 60971440 60971440 G A SNP CABLES2 ENST00000279101 human ensembl 74_37 -1 known missense c.458 p.P153L 0.996 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 tier1 - - 538 0 0.00 306 117 27.66 CAMKV 0 genome.wustl.edu 37 3 49899733 49899733 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49899733 49899733 A G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.89 p.I30T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 tier1 - - 148 0 0.00 57 8 12.31 CAMTA2 0 genome.wustl.edu 37 17 4877712 4877712 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 4877712 4877712 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2053 p.P685S 0.971 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 119 0 0.00 55 18 24.66 CAPSL 0 genome.wustl.edu 37 5 35921206 35921206 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 35921206 35921206 C T SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known missense c.17 p.R6H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 tier1 - - 57 0 0.00 38 15 28.30 CAPZA2 0 genome.wustl.edu 37 7 116544380 116544380 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 116544380 116544380 A G SNP CAPZA2 ENST00000361183 human ensembl 74_37 +1 known silent c.369 p.S123 0.997 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA2 HGNC ENSG00000198898 tier1 - - 133 0 0.00 138 31 18.34 CASC5 0 genome.wustl.edu 37 15 40917822 40917822 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40917822 40917822 C T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.5438 p.T1813M 0.003 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 48 0 0.00 28 6 17.65 CASP14 0 genome.wustl.edu 37 19 15166249 15166249 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 15166249 15166249 G A SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.529 p.A177T 0.336 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 tier1 rs140182507 - 106 0 0.00 30 23 43.40 CASP8AP2 0 genome.wustl.edu 37 6 90572780 90572780 + RNA SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 90572780 90572780 T C SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 rs202104748 - 116 0 0.00 91 35 27.78 CCDC107 0 genome.wustl.edu 37 9 35661172 35661172 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 35661172 35661172 T A SNP CCDC107 ENST00000426546 human ensembl 74_37 +1 known missense c.840 p.S280R 0.841 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 tier1 - - 58 0 0.00 46 12 20.69 CCDC122 0 genome.wustl.edu 37 13 44443474 44443474 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 44443474 44443474 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known silent c.39 p.P13 0.001 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 tier1 - - 21 0 0.00 5 7 58.33 CCDC132 0 genome.wustl.edu 37 7 92987643 92987643 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 92987643 92987643 G A SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known silent c.2790 p.K930 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 tier1 - - 117 0 0.00 101 69 40.59 CCDC163P 0 genome.wustl.edu 37 1 45965309 45965309 + RNA SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 45965309 45965309 C A SNP CCDC163P ENST00000486476 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors CCDC163P HGNC ENSG00000236624 tier1 - - 12 0 0.00 9 5 35.71 CCDC18 0 genome.wustl.edu 37 1 93671100 93671103 + Frame_Shift_Del DEL CTAA CTAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 93671100 93671103 CTAA - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1183_1186 p.N397fs 0.990:0.981:0.006:0.001 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 41 0 0.00 36 7 16.28 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 tier1 24 0 0.00 23 8 25.81 CCDC36 0 genome.wustl.edu 37 3 49294240 49294240 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49294240 49294240 G A SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.1310 p.R437Q 0.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 tier1 - - 176 0 0.00 67 52 43.70 CCDC39 0 genome.wustl.edu 37 3 180334681 180334681 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 180334681 180334681 G A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2339 p.A780V 0.102 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 19 0 0.00 15 7 31.82 CCDC40 0 genome.wustl.edu 37 17 78069165 78069165 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 78069165 78069165 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.871 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 114 0 0.00 76 32 29.63 CCDC6 0 genome.wustl.edu 37 10 61552696 61552696 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 61552696 61552696 C T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known silent c.1404 p.A468 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 tier1 - - 141 0 0.00 88 29 24.79 CCDC93 0 genome.wustl.edu 37 2 118743575 118743575 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 118743575 118743575 C T SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.590 p.R197Q 0.989 pfam_DUF2037 pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 tier1 - - 139 0 0.00 103 45 30.41 CCR1 0 genome.wustl.edu 37 3 46245531 46245531 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 46245531 46245531 C T SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.274 p.D92N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 tier1 - - 137 0 0.00 55 40 42.11 CCZ1 0 genome.wustl.edu 37 7 5963540 5963540 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 5963540 5963540 G T SNP CCZ1 ENST00000325974 human ensembl 74_37 +1 known missense c.1340 p.R447L 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 tier1 - - 52 0 0.00 52 10 16.13 CD109 0 genome.wustl.edu 37 6 74440071 74440071 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 74440071 74440071 C A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.281 p.P94H 0.998 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 79 0 0.00 29 25 46.30 CD2AP 0 genome.wustl.edu 37 6 47577093 47577094 + RNA INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 47577093 47577094 - T INS CD2AP ENST00000486693 human ensembl 74_37 +1 putative rna NULL NULL 0.074:0.127 - - - no_errors CD2AP HGNC ENSG00000198087 tier1 46 0 0.00 29 24 45.28 CD34 0 genome.wustl.edu 37 1 208063101 208063101 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 208063101 208063101 A - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82 p.S28fs 0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 28 0 0.00 20 6 23.08 CD96 0 genome.wustl.edu 37 3 111342620 111342620 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 111342620 111342620 A G SNP CD96 ENST00000283285 human ensembl 74_37 +1 known silent c.1248 p.S416 0.032 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 tier1 - - 55 0 0.00 32 15 31.91 CDAN1 0 genome.wustl.edu 37 15 43017428 43017428 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 43017428 43017428 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.3472 p.L1158 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 tier1 - - 87 0 0.00 72 20 21.74 CDC14B 0 genome.wustl.edu 37 9 99266039 99266039 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 99266039 99266039 C T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1493 p.R498H 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 tier1 rs137968673 - 74 0 0.00 75 21 21.88 CDC14B 0 genome.wustl.edu 37 9 99285623 99285623 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 99285623 99285623 C T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1165 p.A389T 0.787 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 tier1 - - 144 0 0.00 167 44 20.85 CDCA2 0 genome.wustl.edu 37 8 25346199 25346199 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 25346199 25346199 G A SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known silent c.1665 p.K555 0.992 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 tier1 - - 51 0 0.00 10 14 58.33 CDH1 0 genome.wustl.edu 37 16 68835613 68835613 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 68835613 68835613 T - DEL CDH1 ENST00000261769 human ensembl 74_37 +1 known frame_shift_del c.204 p.S70fs 0.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 197 0 0.00 74 36 32.73 CDH10 0 genome.wustl.edu 37 5 24511445 24511445 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 24511445 24511445 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.993 p.T331 0.695 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 159 0 0.00 139 41 22.78 CDH11 0 genome.wustl.edu 37 16 65016020 65016020 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 65016020 65016020 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1184 p.N395S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 124 0 0.00 36 29 44.62 CDH19 0 genome.wustl.edu 37 18 64176381 64176381 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 64176381 64176381 A C SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1679 p.L560R 0.343 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 103 0 0.00 64 32 33.33 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 51 0 0.00 30 14 31.82 CDHR3 0 genome.wustl.edu 37 7 105645092 105645092 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 105645092 105645092 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known silent c.1011 p.D337 0.990 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 rs7783527 - 59 0 0.00 66 20 23.26 CDK20 0 genome.wustl.edu 37 9 90585494 90585494 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 90585494 90585494 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.552 p.G184 0.926 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK20 HGNC ENSG00000156345 tier1 - - 42 0 0.00 25 12 32.43 CDKN2A 0 genome.wustl.edu 37 9 21970956 21970956 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 21970956 21970956 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known silent c.402 p.A134 0.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 74 0 0.00 25 15 37.50 CDNF 0 genome.wustl.edu 37 10 14862151 14862152 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 14862151 14862152 - T INS CDNF ENST00000465530 human ensembl 74_37 -1 known frame_shift_ins c.392_391 p.T131fs 0.185:0.527 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 tier1 132 0 0.00 96 29 23.20 CDX2 0 genome.wustl.edu 37 13 28537278 28537278 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 28537278 28537278 C - DEL CDX2 ENST00000381020 human ensembl 74_37 -1 known frame_shift_del c.916 p.V306fs 0.992 NULL pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 tier1 93 0 0.00 35 2 5.41 CELSR2 0 genome.wustl.edu 37 1 109801548 109801548 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 109801548 109801548 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3805 p.V1269I 0.869 smart_EG-like_dom,pfscan_EG-like_dom 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_dom,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 ENSG00000143126 tier1 - - 42 0 0.00 26 9 25.71 CENPK 0 genome.wustl.edu 37 5 64847400 64847400 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 64847400 64847400 T - DEL CENPK ENST00000242872 human ensembl 74_37 -1 known frame_shift_del c.232 p.T78fs 1.000 pfam_Centromere_CenpK,superfamily_Prefoldin pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 tier1 69 0 0.00 34 19 35.85 CEP250 0 genome.wustl.edu 37 20 34067191 34067191 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 34067191 34067191 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.2230 p.R744W 0.998 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 rs199810583 - 287 0 0.00 175 58 24.89 CEP350 0 genome.wustl.edu 37 1 180062780 180062780 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 180062780 180062780 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known nonsense c.7540 p.R2514* 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 60 0 0.00 42 18 30.00 CHD1 0 genome.wustl.edu 37 5 98235188 98235188 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 98235188 98235188 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.1081 p.R361fs 0.999 superfamily_Chromodomain-like,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 46 0 0.00 45 8 15.09 CHD9 0 genome.wustl.edu 37 16 53352154 53352155 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 53352154 53352155 - A INS CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_ins c.7615_7616 p.R2541fs 1.000:1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 51 0 0.00 27 16 37.21 CHIAP2 0 genome.wustl.edu 37 1 111824264 111824264 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 111824264 111824264 C T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 - - 53 0 0.00 37 16 30.19 CHST8 0 genome.wustl.edu 37 19 34263963 34263963 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 34263963 34263963 T C SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1270 p.Y424H 1.000 NULL pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 tier1 - - 61 0 0.00 26 15 36.59 CLASP2 0 genome.wustl.edu 37 3 33617661 33617661 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 33617661 33617661 C A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.2454 p.L818F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 57 0 0.00 38 4 9.52 CLCA2 0 genome.wustl.edu 37 1 86921043 86921043 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 86921043 86921043 C - DEL CLCA2 ENST00000370565 human ensembl 74_37 +1 known frame_shift_del c.2665 p.N891fs 0.001 NULL pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 tier1 319 0 0.00 281 68 19.48 CLCN1 0 genome.wustl.edu 37 7 143047660 143047660 + Splice_Site SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 143047660 143047660 G A SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known splice_site c.2509-1 e22-1 1.000 - - - no_errors CLCN1 HGNC ENSG00000188037 tier1 - - 191 0 0.00 132 33 20.00 CLCN7 0 genome.wustl.edu 37 16 1497021 1497023 + In_Frame_Del DEL CCA CCA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 1497021 1497023 CCA - DEL CLCN7 ENST00000382745 human ensembl 74_37 -1 known in_frame_del c.2317_2315 p.V772in_frame_del 0.999:0.796:0.893 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 22 0 0.00 14 2 12.50 CNOT4 0 genome.wustl.edu 37 7 135122963 135122963 + Silent SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 135122963 135122963 T A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.117 p.R39 1.000 pfscan_Znf_RING pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 tier1 - - 53 0 0.00 37 11 22.92 CNOT6 0 genome.wustl.edu 37 5 179976951 179976951 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 179976951 179976951 G A SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.133 p.A45T 0.995 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 tier1 - - 183 0 0.00 108 63 36.84 COG1 0 genome.wustl.edu 37 17 71202892 71202892 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 71202892 71202892 C T SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.2665 p.R889W 0.262 NULL NULL - no_errors COG1 HGNC ENSG00000166685 tier1 rs144316008 - 65 0 0.00 34 19 35.85 COG7 0 genome.wustl.edu 37 16 23453967 23453967 + Splice_Site SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 23453967 23453967 C A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known splice_site c.436-1 e4-1 1.000 - - - no_errors COG7 HGNC ENSG00000168434 tier1 - - 96 0 0.00 50 23 31.51 COL10A1 0 genome.wustl.edu 37 6 116442007 116442007 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 116442007 116442007 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known silent c.1272 p.V424 0.002 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 tier1 - - 84 0 0.00 26 28 51.85 COL17A1 0 genome.wustl.edu 37 10 105809185 105809185 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 105809185 105809185 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2209 p.G737R 0.889 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 74 0 0.00 60 17 22.08 COL1A1 0 genome.wustl.edu 37 17 48273560 48273560 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48273560 48273560 C A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.958 p.G320C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 - - 76 0 0.00 43 10 18.87 CPD 0 genome.wustl.edu 37 17 28788227 28788227 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 28788227 28788227 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.3528 p.P1176 0.553 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 - - 67 0 0.00 48 20 29.41 CPSF1 0 genome.wustl.edu 37 8 145626385 145626385 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 145626385 145626385 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.472 p.R158W 0.642 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 46 0 0.00 28 15 34.88 CRAT 0 genome.wustl.edu 37 9 131870101 131870101 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 131870101 131870101 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.283 p.E95K 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 - - 91 0 0.00 68 6 8.11 CREB3L4 0 genome.wustl.edu 37 1 153945250 153945252 + In_Frame_Del DEL GAG GAG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 153945250 153945252 GAG - DEL CREB3L4 ENST00000271889 human ensembl 74_37 +1 known in_frame_del c.574_576 p.E193in_frame_del 1.000:1.000:0.999 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 tier1 42 0 0.00 31 7 18.42 CRYGEP 0 genome.wustl.edu 37 2 208977049 208977049 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 208977049 208977049 C T SNP CRYGEP ENST00000440809 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CRYGEP HGNC ENSG00000229150 tier1 - - 26 0 0.00 27 5 15.62 CSGALNACT1 0 genome.wustl.edu 37 8 19263481 19263481 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19263481 19263481 C T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1409 p.R470Q 0.999 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 rs200462016 - 151 0 0.00 55 52 48.60 CSGALNACT1 0 genome.wustl.edu 37 8 19277874 19277874 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19277874 19277874 G A SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1109 p.T370M 0.970 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 rs34492215 - 148 0 0.00 65 45 40.91 CSMD1 0 genome.wustl.edu 37 8 3253873 3253874 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 3253873 3253874 - A INS CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_ins c.2439_2438 p.L813fs 0.974:0.990 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 27 0 0.00 8 4 33.33 CSNK1A1L 0 genome.wustl.edu 37 13 37679360 37679360 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 37679360 37679360 C T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.34 p.V12I 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 tier1 - - 132 0 0.00 51 97 65.54 CTCFL 0 genome.wustl.edu 37 20 56078494 56078494 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 56078494 56078494 T C SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1838 p.D613G 0.015 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 tier1 - - 150 0 0.00 95 45 32.14 CTPS1 0 genome.wustl.edu 37 1 41475868 41475868 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 41475868 41475868 C A SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.1727 p.P576H 1.000 NULL pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 94 0 0.00 58 27 31.76 CTSZ 0 genome.wustl.edu 37 20 57576633 57576633 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 57576633 57576633 T C SNP CTSZ ENST00000217131 human ensembl 74_37 -1 known missense c.374 p.D125G 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 tier1 - - 69 0 0.00 51 30 37.04 CUL4B 0 genome.wustl.edu 37 X 119680426 119680426 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 119680426 119680426 G A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.876 p.C292 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 tier1 - - 24 0 0.00 5 4 44.44 CWH43 0 genome.wustl.edu 37 4 48994107 48994107 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 48994107 48994107 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.511 p.D171Y 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 65 0 0.00 66 16 19.51 CYP19A1 0 genome.wustl.edu 37 15 51503059 51503059 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 51503059 51503059 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.1458 p.N486 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 tier1 - - 135 0 0.00 123 33 21.15 CYP3A4 0 genome.wustl.edu 37 7 99359780 99359780 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99359780 99359780 T - DEL CYP3A4 ENST00000336411 human ensembl 74_37 -1 known frame_shift_del c.1137 p.D380fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 tier1 105 0 0.00 112 32 22.22 DCST2 0 genome.wustl.edu 37 1 155005625 155005625 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 155005625 155005625 C T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known silent c.384 p.E128 1.000 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 - - 21 0 0.00 16 4 20.00 DCSTAMP 0 genome.wustl.edu 37 8 105361203 105361204 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 105361203 105361204 - A INS DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_ins c.423_424 p.Y143fs 0.281:0.026 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 98 0 0.00 82 17 17.17 DCUN1D5 0 genome.wustl.edu 37 11 102962501 102962501 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 102962501 102962501 G - DEL DCUN1D5 ENST00000529281 human ensembl 74_37 -1 known frame_shift_del c.101 p.P34fs 0.139 NULL NULL - no_errors DCUN1D5 HGNC ENSG00000137692 tier1 107 0 0.00 88 22 20.00 DDR1 0 genome.wustl.edu 37 6 30864571 30864571 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 30864571 30864571 C - DEL DDR1 ENST00000376575 human ensembl 74_37 +1 known frame_shift_del c.1798 p.R602fs 0.997 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 tier1 162 0 0.00 52 67 56.30 DENND4A 0 genome.wustl.edu 37 15 65957052 65957053 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 65957052 65957053 - T INS DENND4A ENST00000443035 human ensembl 74_37 -1 known frame_shift_ins c.5365_5364 p.Y1788fs 1.000:0.997 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 tier1 32 0 0.00 31 8 20.51 DEPDC5 0 genome.wustl.edu 37 22 32234822 32234822 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 32234822 32234822 T C SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2506 p.Y836H 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 158 0 0.00 87 45 34.09 DHX9 0 genome.wustl.edu 37 1 182827950 182827950 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 182827950 182827950 G A SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.983 p.G328D 0.995 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 54 0 0.00 46 14 23.33 DIDO1 0 genome.wustl.edu 37 20 61512758 61512758 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 61512758 61512758 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4550 p.S1517L 0.997 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 196 0 0.00 120 50 29.41 DISP2 0 genome.wustl.edu 37 15 40659835 40659835 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40659835 40659835 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1522 p.R508C 1.000 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 tier1 - - 113 0 0.00 91 33 26.61 DKK2 0 genome.wustl.edu 37 4 107845239 107845239 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 107845239 107845239 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.652 p.R218C 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 190 0 0.00 133 43 24.43 DLGAP4 0 genome.wustl.edu 37 20 35064720 35064720 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 35064720 35064720 A T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1208 p.Q403L 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 33 0 0.00 30 16 34.78 DLL1 0 genome.wustl.edu 37 6 170594673 170594674 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 170594673 170594674 - C INS DLL1 ENST00000366756 human ensembl 74_37 -1 known frame_shift_ins c.846_845 p.L283fs 0.973:1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 tier1 115 0 0.00 36 21 36.84 DLX3 0 genome.wustl.edu 37 17 48072280 48072280 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48072280 48072280 T C SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.83 p.D28G 1.000 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 tier1 - - 110 0 0.00 73 27 26.73 DMAP1 0 genome.wustl.edu 37 1 44680668 44680668 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 44680668 44680668 G A SNP DMAP1 ENST00000488433 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 13 0 0.00 3 6 66.67 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 40 0 0.00 32 8 20.00 DNAH11 0 genome.wustl.edu 37 7 21934307 21934308 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 21934307 21934308 - A INS DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_ins c.12838_12839 p.N4282fs 0.848:0.785 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 77 0 0.00 77 32 29.36 DNAH3 0 genome.wustl.edu 37 16 21123071 21123071 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 21123071 21123071 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1975 p.V659M 0.996 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 92 0 0.00 46 26 36.11 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 58 0 0.00 49 17 25.76 DNAH8 0 genome.wustl.edu 37 6 38718259 38718259 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 38718259 38718259 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 66 0 0.00 24 28 53.85 DNAI1 0 genome.wustl.edu 37 9 34512145 34512147 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34512145 34512147 CTT - DEL DNAI1 ENST00000242317 human ensembl 74_37 +1 known in_frame_del c.1350_1352 p.F452in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 tier1 184 0 0.00 147 39 20.97 DNAJC24 0 genome.wustl.edu 37 11 31447909 31447909 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 31447909 31447909 T - DEL DNAJC24 ENST00000524747 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJC24 HGNC ENSG00000170946 tier1 41 0 0.00 24 3 11.11 DOC2A 0 genome.wustl.edu 37 16 30018552 30018552 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 30018552 30018552 C T SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.596 p.R199H 1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 141 0 0.00 81 36 30.77 DPH1 0 genome.wustl.edu 37 17 1933450 1933450 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 1933450 1933450 T C SNP DPH1 ENST00000263083 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 tier1 - - 19 0 0.00 4 4 50.00 DSCAM 0 genome.wustl.edu 37 21 41450680 41450680 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 41450680 41450680 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4645 p.R1549W 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 51 0 0.00 46 16 25.81 DSCAML1 0 genome.wustl.edu 37 11 117647601 117647601 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 117647601 117647601 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.596 p.G199D 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 70 0 0.00 23 20 46.51 DST 0 genome.wustl.edu 37 6 56417104 56417104 + Nonsense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 56417104 56417104 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.16393 p.E5465* 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,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_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 48 0 0.00 80 17 17.53 DST 0 genome.wustl.edu 37 6 56471473 56471473 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 56471473 56471473 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.7854 p.T2618 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 131 0 0.00 138 30 17.86 DUSP2 0 genome.wustl.edu 37 2 96809601 96809601 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 96809601 96809601 C T SNP DUSP2 ENST00000288943 human ensembl 74_37 -1 known silent c.906 p.G302 0.997 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP2 HGNC ENSG00000158050 tier1 - - 69 0 0.00 47 25 34.72 DYNC2LI1 0 genome.wustl.edu 37 2 44021651 44021651 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 44021651 44021651 A G SNP DYNC2LI1 ENST00000605786 human ensembl 74_37 +1 known missense c.376 p.T126A 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC2LI1 HGNC ENSG00000138036 tier1 - - 71 0 0.00 54 19 25.68 DYRK3 0 genome.wustl.edu 37 1 206821042 206821042 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 206821042 206821042 G T SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known nonsense c.499 p.E167* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 tier1 - - 173 0 0.00 93 53 36.30 DYRK3 0 genome.wustl.edu 37 1 206821148 206821148 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 206821148 206821148 G A SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.605 p.R202Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 tier1 - - 176 0 0.00 97 42 30.22 DYSF 0 genome.wustl.edu 37 2 71871159 71871159 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 71871159 71871159 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4568 p.G1523D 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 17 0 0.00 18 5 21.74 EEF2K 0 genome.wustl.edu 37 16 22268982 22268984 + In_Frame_Del DEL TCT TCT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 22268982 22268984 TCT - DEL EEF2K ENST00000263026 human ensembl 74_37 +1 known in_frame_del c.920_922 p.F309in_frame_del 0.716:0.524:0.998 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 tier1 145 0 0.00 82 33 28.70 EFCAB13 0 genome.wustl.edu 37 17 45451978 45451978 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 45451978 45451978 A - DEL EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_del c.1018 p.S342fs 0.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 48 0 0.00 40 9 18.37 EGFLAM 0 genome.wustl.edu 37 5 38418193 38418193 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 38418193 38418193 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1520 p.R507Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 112 0 0.00 93 36 27.91 EGFR 0 genome.wustl.edu 37 7 55266466 55266466 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 55266466 55266466 G T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.2758 p.A920S 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 93 0 0.00 89 35 28.23 EIF2S3 0 genome.wustl.edu 37 X 24089745 24089745 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 24089745 24089745 C T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known silent c.1083 p.V361 0.995 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 tier1 - - 78 0 0.00 32 39 54.93 EIF3A 0 genome.wustl.edu 37 10 120810064 120810066 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 120810064 120810066 CTC - DEL EIF3A ENST00000369144 human ensembl 74_37 -1 known in_frame_del c.2442_2440 p.E814in_frame_del 0.992:1.000:1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 tier1 518 0 0.00 394 59 13.02 EIF5B 0 genome.wustl.edu 37 2 99977757 99977757 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 99977757 99977757 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.393 p.V131 0.040 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 124 0 0.00 86 33 27.73 ENOX1 0 genome.wustl.edu 37 13 43986137 43986137 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 43986137 43986137 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.123 p.S41 0.925 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 69 0 0.00 28 43 60.56 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854716 + RNA DEL TT TT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 133854715 133854716 TT - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 14 0 0.00 9 4 30.77 ENSG00000226200 0 genome.wustl.edu 37 10 52390318 52390319 + RNA DEL TT TT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 52390318 52390319 TT - DEL ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.840:0.829 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 13 0 0.00 18 7 28.00 ENSG00000226465 0 genome.wustl.edu 37 20 25733357 25733357 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 25733357 25733357 G A SNP ENSG00000226465 ENST00000376445 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP13-401N8.1 Clone_based_vega_gene ENSG00000226465 tier1 - - 32 0 0.00 42 6 12.50 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 tier1 43 0 0.00 30 17 36.17 ENSG00000235016 0 genome.wustl.edu 37 3 50153502 50153502 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 50153502 50153502 G A SNP ENSG00000235016 ENST00000437204 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors RP11-493K19.3 Clone_based_vega_gene ENSG00000235016 tier1 - - 32 0 0.00 5 6 54.55 ENSG00000236817 0 genome.wustl.edu 37 1 247729207 247729209 + RNA DEL TTT TTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 247729207 247729209 TTT - DEL ENSG00000236817 ENST00000435333 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors RP11-978I15.10 Clone_based_vega_gene ENSG00000236817 tier1 12 0 0.00 16 4 20.00 ENSG00000239791 0 genome.wustl.edu 37 16 30583678 30583678 + RNA SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 30583678 30583678 C A SNP ENSG00000239791 ENST00000486926 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000239791 tier1 - - 18 0 0.00 9 8 47.06 ENSG00000271959 0 genome.wustl.edu 37 8 142444739 142444739 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 142444739 142444739 G A SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 - - 10 0 0.00 5 6 54.55 EP300 0 genome.wustl.edu 37 22 41573805 41573805 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 41573805 41573805 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.6090 p.Q2030 0.951 pfam_Nuc_rcpt_coact_CREBbp pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 110 0 0.00 61 39 39.00 EPDR1 0 genome.wustl.edu 37 7 37988640 37988640 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 37988640 37988640 A G SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known silent c.828 p.S276 1.000 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 tier1 - - 70 0 0.00 42 16 27.59 EPRS 0 genome.wustl.edu 37 1 220174484 220174484 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 220174484 220174484 T - DEL EPRS ENST00000366923 human ensembl 74_37 -1 known frame_shift_del c.2177 p.N726fs 0.813 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 tier1 51 0 0.00 41 17 29.31 EPS15L1 0 genome.wustl.edu 37 19 16515514 16515514 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 16515514 16515514 A T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.1313 p.L438H 0.900 superfamily_Prefoldin superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 68 0 0.00 32 11 25.58 ERC2 0 genome.wustl.edu 37 3 56330130 56330130 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 56330130 56330130 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.991 p.R331W 0.266 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 157 0 0.00 69 50 42.02 ERCC6L2 0 genome.wustl.edu 37 9 98691145 98691145 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 98691145 98691145 A C SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1216 p.M406L 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 50 0 0.00 38 32 45.71 EVA1B 0 genome.wustl.edu 37 1 36788573 36788573 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 36788573 36788573 G A SNP EVA1B ENST00000270824 human ensembl 74_37 -1 known silent c.66 p.R22 1.000 NULL NULL - no_errors EVA1B HGNC ENSG00000142694 tier1 - - 164 0 0.00 89 34 27.64 FAAH 0 genome.wustl.edu 37 1 46871370 46871370 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46871370 46871370 C - DEL FAAH ENST00000243167 human ensembl 74_37 +1 known frame_shift_del c.689 p.L232fs 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 tier1 184 0 0.00 141 42 22.95 FAM110A 0 genome.wustl.edu 37 20 826060 826060 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 826060 826060 T - DEL FAM110A ENST00000246100 human ensembl 74_37 +1 known frame_shift_del c.613 p.F206fs 1.000 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 tier1 65 0 0.00 33 11 25.00 FAM134A 0 genome.wustl.edu 37 2 220045847 220045847 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 220045847 220045847 G A SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.704 p.R235H 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 tier1 - - 188 0 0.00 113 44 28.03 FAM170A 0 genome.wustl.edu 37 5 118969897 118969897 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 118969897 118969897 T C SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known silent c.454 p.L152 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 tier1 - - 107 0 0.00 69 21 23.33 FAM179A 0 genome.wustl.edu 37 2 29274996 29274996 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 29274996 29274996 T - DEL FAM179A ENST00000465300 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors FAM179A HGNC ENSG00000189350 tier1 13 0 0.00 11 3 21.43 FAM186B 0 genome.wustl.edu 37 12 49993687 49993687 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 49993687 49993687 G A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.1736 p.A579V 0.541 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 - - 65 0 0.00 42 18 30.00 FAM20A 0 genome.wustl.edu 37 17 66550919 66550919 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 66550919 66550919 C A SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known missense c.639 p.Q213H 1.000 NULL pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 tier1 - - 48 0 0.00 27 13 32.50 FAM212B 0 genome.wustl.edu 37 1 112270003 112270003 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 112270003 112270003 C T SNP FAM212B ENST00000357260 human ensembl 74_37 -1 known missense c.481 p.V161I 1.000 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 tier1 - - 88 0 0.00 73 27 27.00 FAM219A 0 genome.wustl.edu 37 9 34401028 34401028 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34401028 34401028 G - DEL FAM219A ENST00000445726 human ensembl 74_37 -1 known frame_shift_del c.492 p.K165fs 0.999 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 tier1 91 0 0.00 70 21 23.08 FAT4 0 genome.wustl.edu 37 4 126371835 126371835 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 126371835 126371835 G C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9664 p.D3222H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 79 0 0.00 44 28 38.89 FBL 0 genome.wustl.edu 37 19 40328441 40328441 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 40328441 40328441 G A SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.592 p.R198C 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 tier1 - - 90 0 0.00 70 40 36.36 FBLN1 0 genome.wustl.edu 37 22 45970491 45970491 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 45970491 45970491 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1798 p.V600I 0.955 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 tier1 rs149912059 - 68 0 0.00 47 21 30.88 FBXL7 0 genome.wustl.edu 37 5 15937247 15937247 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 15937247 15937247 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1428 p.R476 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 17 0 0.00 18 14 43.75 FBXO31 0 genome.wustl.edu 37 16 87368940 87368940 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 87368940 87368940 G - DEL FBXO31 ENST00000311635 human ensembl 74_37 -1 known frame_shift_del c.966 p.H322fs 0.994 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 126 0 0.00 36 33 47.83 FBXO46 0 genome.wustl.edu 37 19 46215604 46215604 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 46215604 46215604 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1150 p.G384S 0.972 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 162 0 0.00 102 7 6.42 FBXW10 0 genome.wustl.edu 37 17 18654315 18654315 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 18654315 18654315 T C SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.1158 p.D386 0.221 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 232 0 0.00 161 44 21.46 FCGR1B 0 genome.wustl.edu 37 1 120927322 120927322 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 120927322 120927322 G A SNP FCGR1B ENST00000369384 human ensembl 74_37 -1 known missense c.658 p.R220C 0.002 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR1B HGNC ENSG00000198019 tier1 - - 12 0 0.00 12 6 33.33 FCGR3A 0 genome.wustl.edu 37 1 161512834 161512834 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 161512834 161512834 A G SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.841 p.F281L 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 tier1 rs1042208 - 131 0 0.00 157 17 9.77 FGF18 0 genome.wustl.edu 37 5 170883626 170883626 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 170883626 170883626 C T SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.441 p.S147 0.030 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 tier1 rs148727482 - 231 0 0.00 116 49 29.70 FGFR2 0 genome.wustl.edu 37 10 123274810 123274810 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 123274810 123274810 T C SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1111 p.T371A 0.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 tier1 - - 125 0 0.00 90 31 25.62 FIGN 0 genome.wustl.edu 37 2 164468132 164468132 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 164468132 164468132 T - DEL FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_del c.210 p.K70fs 0.998 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 159 0 0.00 166 25 13.09 FNDC4 0 genome.wustl.edu 37 2 27717516 27717517 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27717516 27717517 - G INS FNDC4 ENST00000264703 human ensembl 74_37 -1 known frame_shift_ins c.31_30 p.S10fs 0.989:0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 tier1 23 0 0.00 16 4 20.00 FOLH1B 0 genome.wustl.edu 37 11 89378294 89378294 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 89378294 89378294 G A SNP FOLH1B ENST00000531315 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 9 0 0.00 14 7 33.33 FTSJ3 0 genome.wustl.edu 37 17 61898450 61898450 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 61898450 61898450 G A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known nonsense c.1912 p.R638* 0.920 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 - - 125 0 0.00 54 46 46.00 FUT1 0 genome.wustl.edu 37 19 49253754 49253754 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49253754 49253754 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.785 p.S262N 1.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 rs55746668 - 214 0 0.00 110 71 39.23 G6PC 0 genome.wustl.edu 37 17 41056041 41056041 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 41056041 41056041 C A SNP G6PC ENST00000253801 human ensembl 74_37 +1 known silent c.324 p.T108 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 tier1 - - 161 0 0.00 113 46 28.93 GABARAPL1 0 genome.wustl.edu 37 12 10365771 10365771 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 10365771 10365771 A G SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known missense c.43 p.K15E 1.000 pfam_Atg8_fam pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 11 0 0.00 15 4 21.05 GALNT14 0 genome.wustl.edu 37 2 31178823 31178823 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 31178823 31178823 T C SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.487 p.I163V 0.997 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 216 0 0.00 121 52 30.06 GCK 0 genome.wustl.edu 37 7 44186107 44186107 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 44186107 44186107 C T SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.977 p.R326H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 tier1 - - 72 0 0.00 31 16 34.04 GHRHR 0 genome.wustl.edu 37 7 31011746 31011747 + RNA INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 31011746 31011747 - A INS GHRHR ENST00000461424 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.006 - - - no_errors GHRHR HGNC ENSG00000106128 tier1 36 0 0.00 31 6 16.22 GIF 0 genome.wustl.edu 37 11 59599271 59599272 + Splice_Site INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 59599271 59599272 - A INS GIF ENST00000257248 human ensembl 74_37 -1 known splice_site_ins c.1074-3_1074-2 e8-2 0.963:0.947 - - - no_errors GIF HGNC ENSG00000134812 tier1 64 0 0.00 37 15 28.85 GIMAP6 0 genome.wustl.edu 37 7 150325379 150325379 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 150325379 150325379 G - DEL GIMAP6 ENST00000328902 human ensembl 74_37 -1 known frame_shift_del c.307 p.Q103fs 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 139 0 0.00 103 29 21.97 GLS 0 genome.wustl.edu 37 2 191785880 191785880 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 191785880 191785880 T - DEL GLS ENST00000320717 human ensembl 74_37 +1 known frame_shift_del c.1081 p.L362fs 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 tier1 82 0 0.00 65 33 33.67 GNAI1 0 genome.wustl.edu 37 7 79840378 79840378 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 79840378 79840378 T G SNP GNAI1 ENST00000351004 human ensembl 74_37 +1 known missense c.684 p.S228R 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI1 HGNC ENSG00000127955 tier1 - - 50 0 0.00 33 13 28.26 GNAS 0 genome.wustl.edu 37 20 57484601 57484601 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 57484601 57484601 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.688 p.D230N 0.999 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 74 0 0.00 47 11 18.97 GNB1L 0 genome.wustl.edu 37 22 19808208 19808208 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 19808208 19808208 G A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.167 p.T56M 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 tier1 rs149599532 - 96 0 0.00 50 28 35.90 GNPDA2 0 genome.wustl.edu 37 4 44719213 44719213 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 44719213 44719213 C T SNP GNPDA2 ENST00000295448 human ensembl 74_37 -1 known missense c.326 p.G109E 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 tier1 - - 45 0 0.00 69 16 18.82 GORAB 0 genome.wustl.edu 37 1 170508683 170508683 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 170508683 170508683 A G SNP GORAB ENST00000367763 human ensembl 74_37 +1 known missense c.469 p.K157E 0.997 NULL pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 tier1 - - 66 0 0.00 49 28 36.36 GPBAR1 0 genome.wustl.edu 37 2 219128008 219128008 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 219128008 219128008 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known silent c.561 p.R187 0.028 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 tier1 - - 60 0 0.00 37 22 36.67 GPR112 0 genome.wustl.edu 37 X 135431523 135431523 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 135431523 135431523 C A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.5658 p.P1886 0.017 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 90 0 0.00 83 7 7.78 GPR124 0 genome.wustl.edu 37 8 37690604 37690604 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 37690604 37690604 G - DEL GPR124 ENST00000412232 human ensembl 74_37 +1 known frame_shift_del c.1174 p.G393fs 0.999 pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 210 0 0.00 157 32 16.93 GPR179 0 genome.wustl.edu 37 17 36485655 36485655 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 36485655 36485655 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.3797 p.P1266L 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 108 0 0.00 70 32 31.37 GPR64 0 genome.wustl.edu 37 X 19017206 19017206 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 19017206 19017206 A - DEL GPR64 ENST00000379869 human ensembl 74_37 -1 known frame_shift_del c.2522 p.L841fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 tier1 148 0 0.00 51 88 63.31 GPR87 0 genome.wustl.edu 37 3 151012734 151012734 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 151012734 151012734 A G SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.300 p.H100 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 - - 73 0 0.00 68 46 40.35 GRID2 0 genome.wustl.edu 37 4 94006349 94006349 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 94006349 94006349 G C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.448 p.V150L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 133 0 0.00 94 48 33.80 GRIK5 0 genome.wustl.edu 37 19 42525483 42525483 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42525483 42525483 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1841 p.A614V 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,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 58 0 0.00 34 10 22.22 GRIN2D 0 genome.wustl.edu 37 19 48919377 48919377 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 48919377 48919377 G A SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1700 p.R567H 0.887 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 tier1 - - 97 0 0.00 56 15 21.13 GRIN3A 0 genome.wustl.edu 37 9 104432577 104432577 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 104432577 104432577 T G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2117 p.K706T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 186 0 0.00 170 149 46.71 GRK7 0 genome.wustl.edu 37 3 141497169 141497169 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 141497169 141497169 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.43 p.A15T 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 rs142109851 - 175 0 0.00 94 87 47.80 GRM3 0 genome.wustl.edu 37 7 86394804 86394804 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 86394804 86394804 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.343 p.A115T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 161 0 0.00 129 47 26.70 GSE1 0 genome.wustl.edu 37 16 85690894 85690894 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 85690894 85690894 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.1324 p.D442N 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 214 0 0.00 53 37 41.11 GSG1L 0 genome.wustl.edu 37 16 27840204 27840204 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 27840204 27840204 T C SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.736 p.I246V 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 tier1 - - 87 0 0.00 52 20 27.78 GSTM5 0 genome.wustl.edu 37 1 110259861 110259861 + RNA SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 110259861 110259861 G T SNP GSTM5 ENST00000492718 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 15 0 0.00 13 8 38.10 GTF2F2 0 genome.wustl.edu 37 13 45781540 45781540 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 45781540 45781540 T - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 tier1 19 0 0.00 9 13 59.09 GTF2IRD2 0 genome.wustl.edu 37 7 74237272 74237272 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 74237272 74237272 G A SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.422 p.S141L 0.035 pfam_GTF2I,superfamily_GTF2I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 tier1 - - 61 0 0.00 20 11 35.48 GTF3C2 0 genome.wustl.edu 37 2 27565052 27565052 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27565052 27565052 C T SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known silent c.618 p.L206 0.987 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 tier1 - - 77 0 0.00 54 17 23.94 GTF3C3 0 genome.wustl.edu 37 2 197654051 197654051 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 197654051 197654051 C A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.770 p.R257L 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 41 0 0.00 31 18 36.73 GTPBP4 0 genome.wustl.edu 37 10 1055495 1055495 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 1055495 1055495 A G SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known silent c.1218 p.G406 1.000 pfam_NOG_C pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 tier1 - - 128 0 0.00 48 21 30.43 GYS2 0 genome.wustl.edu 37 12 21711172 21711172 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 21711172 21711172 G A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.1384 p.R462W 0.989 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 tier1 - - 50 0 0.00 61 19 23.75 GZF1 0 genome.wustl.edu 37 20 23345525 23345525 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 23345525 23345525 A G SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.505 p.T169A 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 85 0 0.00 51 25 32.47 HAS1 0 genome.wustl.edu 37 19 52216917 52216917 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52216917 52216917 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.1521 p.Y507 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 20 0 0.00 7 6 46.15 HAS1 0 genome.wustl.edu 37 19 52222464 52222464 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52222464 52222464 C T SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.718 p.V240M 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 71 0 0.00 35 13 27.08 HCN3 0 genome.wustl.edu 37 1 155252416 155252416 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 155252416 155252416 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.493 p.R165C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 tier1 - - 104 0 0.00 65 27 29.35 HDAC1 0 genome.wustl.edu 37 1 32792987 32792987 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 32792987 32792987 G A SNP HDAC1 ENST00000463172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HDAC1 HGNC ENSG00000116478 tier1 - - 19 0 0.00 11 5 31.25 HDAC5 0 genome.wustl.edu 37 17 42168737 42168737 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 42168737 42168737 C T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.1291 p.V431M 0.996 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 tier1 - - 47 0 0.00 39 11 22.00 HDLBP 0 genome.wustl.edu 37 2 242170211 242170211 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 242170211 242170211 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3437 p.R1146H 0.951 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 51 0 0.00 35 11 23.91 HEATR5B 0 genome.wustl.edu 37 2 37293013 37293013 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 37293013 37293013 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.1218 p.G406 0.018 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 33 0 0.00 31 13 29.55 HERC1 0 genome.wustl.edu 37 15 63970177 63970179 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 63970177 63970179 CTC - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known in_frame_del c.6937_6935 p.G2312in_frame_del 1.000:1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 94 0 0.00 86 33 27.73 HIAT1 0 genome.wustl.edu 37 1 100533725 100533725 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 100533725 100533725 T G SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.679 p.S227A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 58 0 0.00 27 6 18.18 HIAT1 0 genome.wustl.edu 37 1 100533730 100533730 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 100533730 100533730 G A SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known nonsense c.684 p.W228* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 59 0 0.00 26 8 23.53 HIST1H4D 0 genome.wustl.edu 37 6 26189010 26189011 + Frame_Shift_Del DEL AA AA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 26189010 26189011 AA - DEL HIST1H4D ENST00000340756 human ensembl 74_37 -1 known frame_shift_del c.295_294 p.Y99fs 1.000:0.864 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4D HGNC ENSG00000188987 tier1 108 0 0.00 70 14 16.67 HJURP 0 genome.wustl.edu 37 2 234750582 234750582 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 234750582 234750582 T C SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.844 p.I282V 0.003 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 tier1 - - 151 0 0.00 82 46 35.94 HLCS 0 genome.wustl.edu 37 21 38302609 38302609 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 38302609 38302609 C T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1121 p.S374N 0.946 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 tier1 - - 82 0 0.00 43 25 36.76 HMCN1 0 genome.wustl.edu 37 1 186097323 186097323 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 186097323 186097323 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.12804 p.D4268 0.927 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 rs147822137 - 75 0 0.00 64 28 30.43 HNRNPA2B1 0 genome.wustl.edu 37 7 26232144 26232144 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 26232144 26232144 G A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known nonsense c.1054 p.R352* 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 tier1 - - 243 0 0.00 171 58 25.33 HOXA5 0 genome.wustl.edu 37 7 27182949 27182949 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 27182949 27182949 G A SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.278 p.T93M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 tier1 - - 29 0 0.00 16 12 42.86 HOXD12 0 genome.wustl.edu 37 2 176965452 176965452 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 176965452 176965452 C T SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known silent c.777 p.R259 0.760 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 tier1 - - 53 0 0.00 29 12 29.27 HOXD13 0 genome.wustl.edu 37 2 176957801 176957801 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 176957801 176957801 A G SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative silent c.183 p.A61 0.972 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 tier1 - - 10 0 0.00 1 4 80.00 HRNR 0 genome.wustl.edu 37 1 152190972 152190972 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 152190972 152190972 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.3133 p.G1045S 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs150311804 - 362 0 0.00 252 57 18.45 HS3ST3A1 0 genome.wustl.edu 37 17 13400018 13400018 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 13400018 13400018 G A SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known silent c.717 p.I239 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 tier1 - - 206 0 0.00 109 29 21.01 HSP90AB2P 0 genome.wustl.edu 37 4 13338379 13338379 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 13338379 13338379 G A SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 tier1 - - 52 0 0.00 33 29 46.77 HTR2A 0 genome.wustl.edu 37 13 47409099 47409099 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 47409099 47409099 T - DEL HTR2A ENST00000378688 human ensembl 74_37 -1 known frame_shift_del c.1289 p.K430fs 0.709 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 tier1 105 0 0.00 72 83 53.55 HTR3D 0 genome.wustl.edu 37 3 183756363 183756363 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 183756363 183756363 G A SNP HTR3D ENST00000382489 human ensembl 74_37 +1 known silent c.1086 p.A362 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 tier1 - - 79 0 0.00 67 27 28.72 HYDIN 0 genome.wustl.edu 37 16 70897000 70897000 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 70897000 70897000 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11557 p.P3853S 0.147 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 54 0 0.00 27 16 37.21 IBTK 0 genome.wustl.edu 37 6 82936963 82936963 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 82936963 82936963 G T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.600 p.T200 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 tier1 - - 143 0 0.00 120 36 23.08 IFITM1 0 genome.wustl.edu 37 11 314210 314210 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 314210 314210 C - DEL IFITM1 ENST00000328221 human ensembl 74_37 +1 known frame_shift_del c.40 p.S16fs 0.007 NULL pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 tier1 166 0 0.00 109 30 21.58 IGF2R 0 genome.wustl.edu 37 6 160448255 160448255 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 160448255 160448255 C - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.685 p.G231fs 0.998 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 45 0 0.00 22 15 40.54 IGHMBP2 0 genome.wustl.edu 37 11 68676073 68676073 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 68676073 68676073 C G SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.521 p.S174C 0.003 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 75 0 0.00 46 19 29.23 IGSF21 0 genome.wustl.edu 37 1 18704785 18704785 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 18704785 18704785 G C SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.1369 p.V457L 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 tier1 - - 43 0 0.00 30 16 34.78 IGSF3 0 genome.wustl.edu 37 1 117122242 117122242 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 117122242 117122242 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3166 p.V1056M 0.997 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 46 0 0.00 38 14 26.92 IKZF2 0 genome.wustl.edu 37 2 213921701 213921701 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 213921701 213921701 T A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.262 p.S88C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 tier1 - - 96 0 0.00 90 30 25.00 IL20RB 0 genome.wustl.edu 37 3 136701098 136701098 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 136701098 136701098 G A SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known silent c.312 p.T104 0.089 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 tier1 - - 46 0 0.00 35 39 52.70 IL4 0 genome.wustl.edu 37 5 132015557 132015557 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 132015557 132015557 G T SNP IL4 ENST00000231449 human ensembl 74_37 +1 known missense c.335 p.R112M 0.793 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4,prints_IL-4 - no_errors IL4 HGNC ENSG00000113520 tier1 - - 54 0 0.00 31 7 18.42 INTS1 0 genome.wustl.edu 37 7 1529297 1529297 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 1529297 1529297 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2571 p.A857 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 15 0 0.00 12 2 14.29 IRX1 0 genome.wustl.edu 37 5 3600335 3600335 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 3600335 3600335 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1273 p.G425R 0.006 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 49 0 0.00 25 16 39.02 ISOC2 0 genome.wustl.edu 37 19 55966445 55966445 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 55966445 55966445 G A SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 tier1 - - 72 0 0.00 45 15 25.00 ITGA2B 0 genome.wustl.edu 37 17 42457070 42457070 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 42457070 42457070 T C SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1865 p.H622R 0.623 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 280 0 0.00 157 77 32.91 ITGA3 0 genome.wustl.edu 37 17 48151625 48151625 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48151625 48151625 G T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.1363 p.D455Y 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 tier1 - - 144 0 0.00 86 40 31.75 ITGA4 0 genome.wustl.edu 37 2 182363503 182363503 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 182363503 182363503 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1694 p.R565Q 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 57 0 0.00 62 4 6.06 ITGA6 0 genome.wustl.edu 37 2 173333883 173333883 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 173333883 173333883 C T SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.418 p.H140Y 0.956 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 - - 116 0 0.00 93 60 39.22 ITGA7 0 genome.wustl.edu 37 12 56078905 56078905 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 56078905 56078905 G C SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.3483 p.I1161M 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 70 0 0.00 33 11 25.00 JRK 0 genome.wustl.edu 37 8 143746052 143746052 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 143746052 143746052 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors JRK HGNC ENSG00000234616 tier1 rs17846351 - 21 0 0.00 22 5 18.52 KAT7 0 genome.wustl.edu 37 17 47904071 47904071 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 47904071 47904071 G A SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.1644 p.T548 0.618 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 218 0 0.00 158 56 26.17 KCNAB3 0 genome.wustl.edu 37 17 7826831 7826832 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7826831 7826832 AG - DEL KCNAB3 ENST00000303790 human ensembl 74_37 -1 known frame_shift_del c.1080_1079 p.S360fs 0.003:0.996 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 tier1 26 0 0.00 15 5 25.00 KCNC2 0 genome.wustl.edu 37 12 75601379 75601379 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 75601379 75601379 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.385 p.V129M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 tier1 - - 41 0 0.00 35 15 30.00 KCNE1 0 genome.wustl.edu 37 21 35821745 35821745 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 35821745 35821745 A T SNP KCNE1 ENST00000337385 human ensembl 74_37 -1 known missense c.188 p.L63Q 1.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE1 HGNC ENSG00000180509 tier1 - - 67 0 0.00 44 25 36.23 KCNH2 0 genome.wustl.edu 37 7 150648860 150648860 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 150648860 150648860 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1621 p.R541C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 68 0 0.00 43 19 30.65 KCNH7 0 genome.wustl.edu 37 2 163374664 163374664 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 163374664 163374664 T A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.468 p.K156N 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 52 0 0.00 45 19 29.69 KCNJ12 0 genome.wustl.edu 37 17 21319012 21319012 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 21319012 21319012 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.358 p.R120C 0.998 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 79 0 0.00 60 6 9.09 KCNK3 0 genome.wustl.edu 37 2 26950760 26950760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 26950760 26950760 C T SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.509 p.T170M 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 tier1 - - 82 0 0.00 74 22 22.92 KCTD9 0 genome.wustl.edu 37 8 25293987 25293989 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 25293987 25293989 CTT - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known in_frame_del c.514_512 p.E171in_frame_del 1.000:1.000:1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 tier1 49 0 0.00 14 6 30.00 KDM2B 0 genome.wustl.edu 37 12 121987461 121987461 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 121987461 121987461 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.480 p.Y160 0.380 NULL pfam_Znf_CXXC,pfam_F-box_dom,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 KDM2B HGNC ENSG00000089094 tier1 - - 139 0 0.00 124 10 7.46 KIAA0753 0 genome.wustl.edu 37 17 6515341 6515341 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 6515341 6515341 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known silent c.1443 p.D481 0.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 rs199557242 - 214 0 0.00 155 63 28.90 KIAA1161 0 genome.wustl.edu 37 9 34371043 34371043 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34371043 34371043 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.1797 p.I599 0.994 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 60 0 0.00 28 7 20.00 KIAA1244 0 genome.wustl.edu 37 6 138657551 138657551 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 138657551 138657551 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.6462 p.T2154 0.041 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 139 0 0.00 58 54 48.21 KIF3B 0 genome.wustl.edu 37 20 30898021 30898021 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 30898021 30898021 C A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known silent c.441 p.I147 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 78 0 0.00 37 12 24.49 KIRREL3 0 genome.wustl.edu 37 11 126396433 126396433 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 126396433 126396433 T C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.283 p.S95G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 25 0 0.00 27 9 25.00 KLHDC8A 0 genome.wustl.edu 37 1 205308508 205308508 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 205308508 205308508 C T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.571 p.A191T 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 tier1 - - 38 0 0.00 24 14 36.84 KLHDC8B 0 genome.wustl.edu 37 3 49210244 49210244 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49210244 49210244 C - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.42 p.M17fs 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 tier1 61 0 0.00 29 18 38.30 KLHL35 0 genome.wustl.edu 37 11 75136619 75136619 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 75136619 75136619 G A SNP KLHL35 ENST00000539798 human ensembl 74_37 -1 known missense c.1193 p.A398V 0.866 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL35 HGNC ENSG00000149243 tier1 - - 28 0 0.00 9 8 47.06 KLHL40 0 genome.wustl.edu 37 3 42728038 42728038 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 42728038 42728038 C A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.928 p.L310M 0.935 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 tier1 - - 152 0 0.00 100 7 6.54 KMT2A 0 genome.wustl.edu 37 11 118375333 118375333 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 118375333 118375333 C A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.8717 p.P2906H 0.991 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 275 0 0.00 188 82 30.37 KMT2B 0 genome.wustl.edu 37 19 36212538 36212538 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36212538 36212538 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.2289 p.P763 0.003 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 44 0 0.00 38 8 17.39 KMT2B 0 genome.wustl.edu 37 19 36214871 36214871 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36214871 36214871 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3297 p.P1101fs 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 71 0 0.00 37 14 27.45 KMT2D 0 genome.wustl.edu 37 12 49437711 49437713 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 49437711 49437713 CTT - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known in_frame_del c.5259_5257 p.K1753in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,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 KMT2D HGNC ENSG00000167548 tier1 150 0 0.00 84 16 16.00 KNDC1 0 genome.wustl.edu 37 10 135015020 135015020 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 135015020 135015020 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3011 p.A1004V 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 236 0 0.00 122 55 31.07 KNTC1 0 genome.wustl.edu 37 12 123052858 123052858 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123052858 123052858 T - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.1655 p.L554fs 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 200 0 0.00 170 41 19.43 KRT16 0 genome.wustl.edu 37 17 39766239 39766239 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 39766239 39766239 G T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.1370 p.P457H 0.992 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 tier1 - - 54 0 0.00 33 16 32.00 KRT40 0 genome.wustl.edu 37 17 39137374 39137374 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 39137374 39137374 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.717 p.G239 0.829 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 tier1 - - 91 0 0.00 86 30 25.86 KRT6C 0 genome.wustl.edu 37 12 52865022 52865022 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52865022 52865022 T C SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.971 p.N324S 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 tier1 - - 171 0 0.00 158 65 29.15 KRT82 0 genome.wustl.edu 37 12 52788766 52788766 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52788766 52788766 T G SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known missense c.1535 p.K512T 0.005 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 tier1 - - 117 0 0.00 67 27 28.72 KRT85 0 genome.wustl.edu 37 12 52761121 52761121 + Silent SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52761121 52761121 A C SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.69 p.A23 0.157 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 66 0 0.00 33 21 38.89 KRTAP19-3 0 genome.wustl.edu 37 21 31864179 31864179 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 31864179 31864179 G A SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.97 p.R33C 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 tier1 - - 326 0 0.00 244 96 28.15 LARP7 0 genome.wustl.edu 37 4 113565887 113565889 + In_Frame_Del DEL AAG AAG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 113565887 113565889 AAG - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known in_frame_del c.62_64 p.E22in_frame_del 0.987:0.921:0.998 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 104 0 0.00 62 18 22.50 LASP1 0 genome.wustl.edu 37 17 37075003 37075003 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 37075003 37075003 T C SNP LASP1 ENST00000318008 human ensembl 74_37 +1 known missense c.758 p.L253P 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 tier1 - - 155 0 0.00 115 49 29.88 LATS1 0 genome.wustl.edu 37 6 150004169 150004172 + Frame_Shift_Del DEL CAAA CAAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 150004169 150004172 CAAA - DEL LATS1 ENST00000392273 human ensembl 74_37 -1 known frame_shift_del c.2056_2053 p.F685fs 0.000:0.026:0.007:0.011 NULL pfam_UBA/Ts_N,superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors LATS1 HGNC ENSG00000131023 tier1 11 0 0.00 8 4 33.33 LEFTY2 0 genome.wustl.edu 37 1 226127114 226127114 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 226127114 226127114 G A SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known silent c.684 p.A228 0.000 pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 tier1 - - 37 0 0.00 30 11 26.83 LGMN 0 genome.wustl.edu 37 14 93176150 93176151 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 93176150 93176151 - G INS LGMN ENST00000334869 human ensembl 74_37 -1 known frame_shift_ins c.887_886 p.L296fs 0.992:0.851 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 tier1 174 0 0.00 69 36 34.29 LILRP2 0 genome.wustl.edu 37 19 55221556 55221556 + RNA SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 55221556 55221556 C G SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LILRP2 HGNC ENSG00000170858 tier1 - - 52 0 0.00 54 17 23.94 LIM2 0 genome.wustl.edu 37 19 51890655 51890655 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 51890655 51890655 C T SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.43 p.G15R 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 tier1 - - 98 0 0.00 70 34 32.69 LIMS2 0 genome.wustl.edu 37 2 128396787 128396787 + RNA DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 128396787 128396787 G - DEL LIMS2 ENST00000494613 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LIMS2 HGNC ENSG00000072163 tier1 51 0 0.00 22 9 29.03 LINC00680 0 genome.wustl.edu 37 6 58285382 58285382 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 58285382 58285382 T - DEL LINC00680 ENST00000399751 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors LINC00680 HGNC ENSG00000215190 tier1 106 0 0.00 62 15 19.48 LINGO1 0 genome.wustl.edu 37 15 77906642 77906642 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 77906642 77906642 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1607 p.P536L 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 114 0 0.00 62 26 29.55 LIPH 0 genome.wustl.edu 37 3 185237031 185237032 + Frame_Shift_Del DEL CT CT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 185237031 185237032 CT - DEL LIPH ENST00000296252 human ensembl 74_37 -1 known frame_shift_del c.785_784 p.S262fs 0.031:0.003 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 157 0 0.00 118 58 32.95 LMLN 0 genome.wustl.edu 37 3 197762864 197762864 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 197762864 197762864 C A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1817 p.P606H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 tier1 - - 112 0 0.00 97 86 46.74 LOC100127967 0 genome.wustl.edu 37 12 53007366 53007366 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 53007366 53007366 G A SNP LOC100127967 ENST00000549180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 tier1 - - 27 0 0.00 14 4 22.22 LOC101243545 0 genome.wustl.edu 37 3 161147202 161147202 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 161147202 161147202 G A SNP LOC101243545 ENST00000473595 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-3P17.4 Clone_based_vega_gene ENSG00000240567 tier1 - - 41 0 0.00 34 13 27.66 LOC101929762 0 genome.wustl.edu 37 4 120116877 120116877 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 120116877 120116877 A - DEL LOC101929762 ENST00000326780 human ensembl 74_37 -1 known frame_shift_del c.236 p.F79fs 0.022 NULL pfam_Ribosomal-S32_mit - no_errors RP11-455G16.1 Clone_based_vega_gene ENSG00000178636 tier1 22 0 0.00 18 9 33.33 LPL 0 genome.wustl.edu 37 8 19805825 19805825 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19805825 19805825 A G SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.223 p.T75A 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 tier1 - - 98 0 0.00 46 38 45.24 LRP1 0 genome.wustl.edu 37 12 57588181 57588181 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 57588181 57588181 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7963 p.V2655M 0.987 pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 164 0 0.00 106 40 27.21 LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 95 0 0.00 62 23 27.06 LRP12 0 genome.wustl.edu 37 8 105502938 105502938 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 105502938 105502938 T - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.2486 p.N829fs 0.057 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 107 0 0.00 59 29 32.95 LRP2 0 genome.wustl.edu 37 2 169997025 169997025 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 169997025 169997025 G - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.13139 p.P4380fs 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 44 0 0.00 61 18 22.78 LRRC10 0 genome.wustl.edu 37 12 70004125 70004125 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 70004125 70004125 C T SNP LRRC10 ENST00000361484 human ensembl 74_37 -1 known missense c.494 p.R165H 0.008 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 tier1 - - 85 0 0.00 42 20 32.26 LRRC37A3 0 genome.wustl.edu 37 17 62892245 62892245 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 62892245 62892245 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.1131 p.P377 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 279 0 0.00 213 125 36.98 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 tier1 21 0 0.00 16 6 27.27 LRRC7 0 genome.wustl.edu 37 1 70446077 70446077 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 70446077 70446077 C G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.613 p.Q205E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 127 0 0.00 92 19 17.12 LSM14A 0 genome.wustl.edu 37 19 34710756 34710756 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 34710756 34710756 T C SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known silent c.1110 p.F370 0.973 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 tier1 - - 38 0 0.00 23 6 20.69 LSMEM2 0 genome.wustl.edu 37 3 50324164 50324164 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 50324164 50324164 G A SNP LSMEM2 ENST00000316436 human ensembl 74_37 +1 known missense c.232 p.V78I 0.007 NULL NULL - no_errors LSMEM2 HGNC ENSG00000179564 tier1 rs151106412 - 78 0 0.00 27 23 46.00 LTN1 0 genome.wustl.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 30339206 30339206 T - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.1745 p.N582fs 0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 47 0 0.00 33 10 23.26 LYST 0 genome.wustl.edu 37 1 235971962 235971962 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 235971962 235971962 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.2156 p.I719T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 36 0 0.00 15 11 42.31 MAATS1 0 genome.wustl.edu 37 3 119445101 119445101 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 119445101 119445101 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.766 p.A256T 0.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 tier1 - - 34 0 0.00 33 12 26.67 MAGEA3 0 genome.wustl.edu 37 X 151935781 151935781 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 151935781 151935781 G A SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.386 p.P129L 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 tier1 - - 111 0 0.00 44 62 58.49 MAN2B2 0 genome.wustl.edu 37 4 6615986 6615986 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 6615986 6615986 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2605 p.V869M 0.016 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 103 0 0.00 44 64 59.26 MAP3K4 0 genome.wustl.edu 37 6 161501972 161501972 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 161501972 161501972 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.2157 p.S719 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 tier1 - - 40 0 0.00 12 12 50.00 MAPKBP1 0 genome.wustl.edu 37 15 42116151 42116151 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 42116151 42116151 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.4123 p.V1375I 0.039 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 176 0 0.00 105 58 35.58 MARK2 0 genome.wustl.edu 37 11 63671581 63671582 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 63671581 63671582 - C INS MARK2 ENST00000402010 human ensembl 74_37 +1 known frame_shift_ins c.1638_1639 p.T548fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 19 0 0.00 20 2 9.09 MAST2 0 genome.wustl.edu 37 1 46500777 46500777 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46500777 46500777 G A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.4436 p.G1479D 0.996 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 49 0 0.00 37 14 27.45 MBD1 0 genome.wustl.edu 37 18 47799244 47799244 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 47799244 47799244 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1819 p.A607T 0.028 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 tier1 - - 156 0 0.00 46 32 41.03 MCF2L2 0 genome.wustl.edu 37 3 183013086 183013086 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 183013086 183013086 A G SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known splice_site c.1675+2 e13+2 1.000 - - - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 96 0 0.00 59 32 35.16 MDN1 0 genome.wustl.edu 37 6 90453364 90453364 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 90453364 90453364 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.4248 p.C1416 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 118 0 0.00 103 40 27.97 MEGF11 0 genome.wustl.edu 37 15 66416314 66416314 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 66416314 66416314 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.123 p.S41 0.011 pfscan_EMI_domain pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 tier1 - - 80 0 0.00 78 29 27.10 MEGF8 0 genome.wustl.edu 37 19 42863328 42863328 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42863328 42863328 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.5422 p.E1808K 0.998 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 29 0 0.00 21 6 22.22 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 tier1 87 0 0.00 61 16 20.78 MESP2 0 genome.wustl.edu 37 15 90320318 90320318 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 90320318 90320318 G A SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known missense c.730 p.D244N 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 tier1 - - 45 0 0.00 30 7 18.92 MGAM 0 genome.wustl.edu 37 7 141750601 141750601 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 141750601 141750601 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.2742 p.T914 0.036 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 73 0 0.00 54 10 15.62 MGAM 0 genome.wustl.edu 37 7 141752697 141752697 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 141752697 141752697 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.3072 p.S1024 0.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 91 0 0.00 62 31 33.33 MICU3 0 genome.wustl.edu 37 8 16944491 16944491 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 16944491 16944491 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.796 p.N268fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 tier1 20 0 0.00 10 2 16.67 MIER1 0 genome.wustl.edu 37 1 67425495 67425495 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 67425495 67425495 T - DEL MIER1 ENST00000493357 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIER1 HGNC ENSG00000198160 tier1 16 0 0.00 13 3 18.75 MIIP 0 genome.wustl.edu 37 1 12081867 12081867 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 12081867 12081867 G A SNP MIIP ENST00000235332 human ensembl 74_37 +1 known silent c.84 p.V28 0.448 NULL NULL - no_errors MIIP HGNC ENSG00000116691 tier1 - - 48 0 0.00 21 15 41.67 MIOS 0 genome.wustl.edu 37 7 7612322 7612322 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 7612322 7612322 T C SNP MIOS ENST00000340080 human ensembl 74_37 +1 known silent c.216 p.Y72 0.997 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 tier1 - - 103 0 0.00 88 34 27.87 MKL1 0 genome.wustl.edu 37 22 40816542 40816542 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 40816542 40816542 G - DEL MKL1 ENST00000355630 human ensembl 74_37 -1 known frame_shift_del c.920 p.P307fs 0.025 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 tier1 153 0 0.00 130 42 24.42 MLH1 0 genome.wustl.edu 37 3 37048546 37048546 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 37048546 37048546 C T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known nonsense c.445 p.Q149* 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 tier1 rs63751302 - 72 0 0.00 21 23 52.27 MMP19 0 genome.wustl.edu 37 12 56234489 56234489 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 56234489 56234489 C T SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known missense c.482 p.R161H 0.795 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 tier1 - - 192 0 0.00 169 12 6.63 MMP27 0 genome.wustl.edu 37 11 102567123 102567123 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 102567123 102567123 T G SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.881 p.E294A 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 94 0 0.00 73 27 27.00 MOCS1 0 genome.wustl.edu 37 6 39895280 39895280 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 39895280 39895280 A G SNP MOCS1 ENST00000373175 human ensembl 74_37 -1 known splice_site c.36+2 e1+2 0.000 - - - no_errors MOCS1 HGNC ENSG00000124615 tier1 - - 39 0 0.00 3 11 78.57 MOGAT3 0 genome.wustl.edu 37 7 100844061 100844061 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 100844061 100844061 G A SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.75 p.G25 0.000 NULL pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 tier1 - - 48 0 0.00 46 14 23.33 MPHOSPH9 0 genome.wustl.edu 37 12 123649959 123649959 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123649959 123649959 T - DEL MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known frame_shift_del c.2201 p.K734fs 0.166 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 129 0 0.00 93 31 25.00 MPP4 0 genome.wustl.edu 37 2 202547563 202547563 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 202547563 202547563 G A SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known silent c.651 p.I217 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 tier1 - - 120 0 0.00 89 27 23.28 MROH2B 0 genome.wustl.edu 37 5 41018864 41018864 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 41018864 41018864 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2602 p.A868T 0.974 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 100 0 0.00 66 21 24.14 MRPL33 0 genome.wustl.edu 37 2 27997345 27997345 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27997345 27997345 C A SNP MRPL33 ENST00000296102 human ensembl 74_37 +1 known silent c.96 p.T32 0.981 pfam_Ribosomal_L33,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L33 pfam_Ribosomal_L33,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L33 - no_errors MRPL33 HGNC ENSG00000243147 tier1 - - 183 0 0.00 132 53 28.49 MRPL46 0 genome.wustl.edu 37 15 89008087 89008087 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 89008087 89008087 G A SNP MRPL46 ENST00000312475 human ensembl 74_37 -1 known nonsense c.436 p.R146* 0.746 NULL pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 HGNC ENSG00000259494 tier1 - - 132 0 0.00 93 53 36.30 MSANTD3 0 genome.wustl.edu 37 9 103204536 103204536 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 103204536 103204536 C A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known missense c.316 p.L106I 0.898 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 tier1 - - 77 0 0.00 62 27 30.34 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 153 0 0.00 116 35 23.18 MT1G 0 genome.wustl.edu 37 16 56700800 56700800 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 56700800 56700800 G A SNP MT1G ENST00000379811 human ensembl 74_37 -1 known silent c.180 p.C60 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1G HGNC ENSG00000125144 tier1 - - 130 0 0.00 81 43 34.68 MTF2 0 genome.wustl.edu 37 1 93581092 93581092 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 93581092 93581092 C A SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known silent c.549 p.P183 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 tier1 - - 72 0 0.00 55 5 8.33 MTG2 0 genome.wustl.edu 37 20 60776091 60776091 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 60776091 60776091 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.1179 p.A393 0.001 superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 tier1 - - 55 0 0.00 26 16 38.10 MTTP 0 genome.wustl.edu 37 4 100534216 100534216 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 100534216 100534216 T C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.2136 p.D712 0.988 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 91 0 0.00 43 14 24.56 MUC16 0 genome.wustl.edu 37 19 9090101 9090101 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 9090101 9090101 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.1714 p.L572 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 59 0 0.00 26 15 36.59 MUC17 0 genome.wustl.edu 37 7 100686732 100686732 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 100686732 100686732 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12035 p.S4012N 0.028 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 174 0 0.00 166 36 17.82 MYBPC3 0 genome.wustl.edu 37 11 47373000 47373000 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 47373000 47373000 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.82 p.V28M 0.624 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 20 0 0.00 18 6 25.00 MYD88 0 genome.wustl.edu 37 3 38181942 38181942 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 38181942 38181942 A G SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known missense c.566 p.Q189R 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 tier1 - - 101 0 0.00 43 16 27.12 MYL10 0 genome.wustl.edu 37 7 101256825 101256825 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 101256825 101256825 G - DEL MYL10 ENST00000223167 human ensembl 74_37 -1 known frame_shift_del c.611 p.P204fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 tier1 142 0 0.00 108 54 33.33 MYO1A 0 genome.wustl.edu 37 12 57432301 57432301 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 57432301 57432301 G T SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1655 p.P552H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 - - 103 0 0.00 62 32 34.04 MYO5C 0 genome.wustl.edu 37 15 52504010 52504010 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 52504010 52504010 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.4213 p.R1405C 0.988 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 149 0 0.00 120 73 37.82 MYOD1 0 genome.wustl.edu 37 11 17742463 17742463 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 17742463 17742463 C - DEL MYOD1 ENST00000250003 human ensembl 74_37 +1 known frame_shift_del c.645 p.P217fs 0.997 pfam_Myf5 pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 tier1 48 0 0.00 34 10 22.73 MYT1L 0 genome.wustl.edu 37 2 1926404 1926404 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 1926404 1926404 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1137 p.M379I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 45 0 0.00 39 7 15.22 NAV2 0 genome.wustl.edu 37 11 20066923 20066923 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20066923 20066923 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.3678 p.N1226 0.475 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 rs139137383 - 56 0 0.00 27 15 35.71 NAV2 0 genome.wustl.edu 37 11 20112450 20112450 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20112450 20112450 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5715 p.M1905I 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 70 0 0.00 42 16 27.59 NBN 0 genome.wustl.edu 37 8 90949303 90949303 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 90949303 90949303 C T SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.2185 p.V729I 1.000 pfam_DNA-repair_Nbs1_C,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 26 0 0.00 14 4 22.22 NCAPD3 0 genome.wustl.edu 37 11 134078847 134078848 + Splice_Site INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 134078847 134078848 - A INS NCAPD3 ENST00000534548 human ensembl 74_37 -1 known splice_site_ins c.795-3_795-2 e7-2 1.000:0.997 - - - no_errors NCAPD3 HGNC ENSG00000151503 tier1 26 0 0.00 26 9 25.71 NCDN 0 genome.wustl.edu 37 1 36028192 36028192 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 36028192 36028192 C - DEL NCDN ENST00000356090 human ensembl 74_37 +1 known frame_shift_del c.1343 p.T450fs 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 36 0 0.00 29 13 30.95 NCKAP5L 0 genome.wustl.edu 37 12 50189470 50189471 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 50189470 50189471 - C INS NCKAP5L ENST00000335999 human ensembl 74_37 -1 known frame_shift_ins c.2173_2172 p.I724fs 0.000:0.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 tier1 29 0 0.00 13 6 31.58 NCOA2 0 genome.wustl.edu 37 8 71053526 71053526 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 71053526 71053526 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2921 p.R974Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 45 0 0.00 35 15 30.00 NCOR2 0 genome.wustl.edu 37 12 124862925 124862927 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 124862925 124862927 CTT - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known in_frame_del c.2025_2023 p.K675in_frame_del 1.000:1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 30 0 0.00 28 5 15.15 NDST1 0 genome.wustl.edu 37 5 149932951 149932951 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 149932951 149932951 G A SNP NDST1 ENST00000521752 human ensembl 74_37 +1 known rna NULL NULL 0.708 - - - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 191 0 0.00 118 42 26.25 NEU2 0 genome.wustl.edu 37 2 233899616 233899616 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 233899616 233899616 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.992 p.S331N 0.974 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 tier1 - - 203 0 0.00 124 59 32.24 NFKB2 0 genome.wustl.edu 37 10 104160788 104160788 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 104160788 104160788 C T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.2053 p.R685C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 tier1 - - 32 0 0.00 22 13 37.14 NID2 0 genome.wustl.edu 37 14 52477634 52477634 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 52477634 52477634 G C SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3682 p.L1228V 0.994 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 tier1 - - 123 0 0.00 59 34 36.56 NIN 0 genome.wustl.edu 37 14 51226698 51226698 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 51226698 51226698 G C SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.2276 p.T759S 0.473 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 150 0 0.00 77 44 36.36 NLRC3 0 genome.wustl.edu 37 16 3591814 3591814 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 3591814 3591814 G A SNP NLRC3 ENST00000419350 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 14 0 0.00 32 9 21.95 NLRP12 0 genome.wustl.edu 37 19 54312977 54312977 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 54312977 54312977 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1936 p.E646K 0.976 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 67 0 0.00 62 4 6.06 NOA1 0 genome.wustl.edu 37 4 57843622 57843622 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 57843622 57843622 G A SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.130 p.H44Y 0.355 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 104 0 0.00 61 52 46.02 NOL6 0 genome.wustl.edu 37 9 33467733 33467733 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 33467733 33467733 C - DEL NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_del c.1558 p.A520fs 0.077 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 tier1 84 0 0.00 60 30 33.33 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 62 0 0.00 44 23 34.33 NOTCH1 0 genome.wustl.edu 37 9 139412252 139412252 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 139412252 139412252 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1393 p.A465T 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,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_dom,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 ENSG00000148400 tier1 - - 138 0 0.00 86 35 28.93 NOTCH3 0 genome.wustl.edu 37 19 15281201 15281201 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 15281201 15281201 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.5055 p.D1685 0.079 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 106 0 0.00 56 27 32.53 NPBWR1 0 genome.wustl.edu 37 8 53852937 53852937 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 53852937 53852937 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.470 p.A157V 0.987 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 23 0 0.00 19 4 17.39 NPFF 0 genome.wustl.edu 37 12 53900987 53900988 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 53900987 53900988 - G INS NPFF ENST00000609999 human ensembl 74_37 -1 known frame_shift_ins c.51_50 p.C18fs 0.000:0.001 pirsf_FMRFamid-related_peptide pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide - no_errors NPFF HGNC ENSG00000139574 tier1 38 0 0.00 33 8 19.51 NPIPB6 0 genome.wustl.edu 37 16 28354296 28354296 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 28354296 28354296 G T SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel missense c.910 p.P304T 0.185 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 tier1 - - 34 0 0.00 10 10 50.00 NRXN1 0 genome.wustl.edu 37 2 51255231 51255231 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 51255231 51255231 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.181 p.R61C 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 15 0 0.00 18 5 21.74 NTAN1 0 genome.wustl.edu 37 16 15132044 15132044 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 15132044 15132044 A G SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known silent c.777 p.A259 0.043 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 tier1 - - 67 0 0.00 37 17 31.48 NUAK1 0 genome.wustl.edu 37 12 106480594 106480594 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 106480594 106480594 A G SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.431 p.I144T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 87 0 0.00 76 30 28.30 NUP160 0 genome.wustl.edu 37 11 47858456 47858456 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 47858456 47858456 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known nonsense c.925 p.R309* 0.998 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 tier1 - - 95 0 0.00 86 18 17.31 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 38 0 0.00 41 17 29.31 NYNRIN 0 genome.wustl.edu 37 14 24884689 24884689 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 24884689 24884689 G A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.3734 p.R1245Q 0.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 tier1 - - 56 0 0.00 22 16 42.11 OBSL1 0 genome.wustl.edu 37 2 220421447 220421447 + Splice_Site SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 220421447 220421447 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known splice_site c.4067-2 e13-2 0.770 - - - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 23 0 0.00 12 8 40.00 OCLN 0 genome.wustl.edu 37 5 68830666 68830666 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 68830666 68830666 C T SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.1037 p.P346L 0.992 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 tier1 - - 86 0 0.00 46 13 22.03 OFD1 0 genome.wustl.edu 37 X 13785383 13785383 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 13785383 13785383 G C SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.2737 p.E913Q 0.001 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 tier1 - - 191 0 0.00 209 111 34.69 OGFOD2 0 genome.wustl.edu 37 12 123462998 123462998 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123462998 123462998 G A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.413 p.R138H 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 tier1 - - 96 0 0.00 65 16 19.51 OIT3 0 genome.wustl.edu 37 10 74666423 74666423 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 74666423 74666423 G A SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.614 p.R205H 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 tier1 - - 337 0 0.00 244 94 27.81 OLFML2A 0 genome.wustl.edu 37 9 127549519 127549519 + Splice_Site SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 127549519 127549519 T C SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known splice_site c.354+2 e2+2 1.000 - - - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 68 0 0.00 45 18 28.57 OOEP 0 genome.wustl.edu 37 6 74079007 74079007 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 74079007 74079007 C T SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.292 p.G98R 0.001 NULL NULL - no_errors OOEP HGNC ENSG00000203907 tier1 - - 52 0 0.00 17 17 50.00 OPLAH 0 genome.wustl.edu 37 8 145107481 145107481 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 145107481 145107481 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.3174 p.R1058 0.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 54 0 0.00 30 5 14.29 OR12D2 0 genome.wustl.edu 37 6 29364694 29364694 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 29364694 29364694 C T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.218 p.T73M 0.113 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 87 0 0.00 38 45 54.22 OR2AG2 0 genome.wustl.edu 37 11 6789417 6789417 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6789417 6789417 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.772 p.M258V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 tier1 - - 82 0 0.00 60 24 28.57 OR2T35 0 genome.wustl.edu 37 1 248801857 248801857 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 248801857 248801857 G A SNP OR2T35 ENST00000317450 human ensembl 74_37 -1 known missense c.703 p.R235C 0.952 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 tier1 rs146528192 - 57 0 0.00 51 13 20.31 OR2Z1 0 genome.wustl.edu 37 19 8842179 8842179 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 8842179 8842179 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.789 p.C263 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 tier1 - - 113 0 0.00 39 43 52.44 OR4C3 0 genome.wustl.edu 37 11 48346746 48346747 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 48346746 48346747 - T INS OR4C3 ENST00000319856 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.L88fs 1.000:0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 112 0 0.00 113 14 11.02 OR4N4 0 genome.wustl.edu 37 15 22382892 22382892 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 22382892 22382892 C T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.420 p.A140 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 174 0 0.00 119 31 20.67 OR51A4 0 genome.wustl.edu 37 11 4968091 4968091 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 4968091 4968091 C T SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.240 p.L80 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 tier1 - - 137 0 0.00 127 20 13.61 OR56B1 0 genome.wustl.edu 37 11 5758485 5758485 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 5758485 5758485 C A SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.739 p.L247M 0.485 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 tier1 - - 154 0 0.00 101 37 26.81 OR5A1 0 genome.wustl.edu 37 11 59211505 59211505 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 59211505 59211505 G T SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known silent c.864 p.L288 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 tier1 - - 249 0 0.00 180 50 21.74 OR8D4 0 genome.wustl.edu 37 11 123777147 123777147 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 123777147 123777147 A - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.9 p.N5fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 tier1 51 0 0.00 38 19 33.33 OSBPL11 0 genome.wustl.edu 37 3 125271337 125271338 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 125271337 125271338 - T INS OSBPL11 ENST00000296220 human ensembl 74_37 -1 known frame_shift_ins c.1342_1341 p.P447fs 1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 tier1 95 0 0.00 90 34 27.42 OSR2 0 genome.wustl.edu 37 8 99961360 99961360 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 99961360 99961360 T C SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.543 p.N181 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 tier1 - - 107 0 0.00 72 28 28.00 OTX1 0 genome.wustl.edu 37 2 63283098 63283098 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 63283098 63283098 C T SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.712 p.P238S 0.994 pfam_Otx_TF_C pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 tier1 - - 149 0 0.00 88 49 35.77 P2RX6 0 genome.wustl.edu 37 22 21377450 21377450 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 21377450 21377450 A - DEL P2RX6 ENST00000413302 human ensembl 74_37 +1 known frame_shift_del c.601 p.N202fs 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 tier1 179 0 0.00 91 41 31.06 P2RY13 0 genome.wustl.edu 37 3 151046375 151046376 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 151046375 151046376 - T INS P2RY13 ENST00000325602 human ensembl 74_37 -1 known frame_shift_ins c.469_468 p.P156fs 0.002:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 tier1 50 0 0.00 67 16 19.28 PADI2 0 genome.wustl.edu 37 1 17401416 17401416 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 17401416 17401416 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1484 p.S495L 0.474 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 tier1 - - 36 0 0.00 18 7 28.00 PADI2 0 genome.wustl.edu 37 1 17431554 17431554 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 17431554 17431554 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.95 p.A32V 0.440 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 tier1 rs148878349 - 39 0 0.00 25 14 35.90 PALM 0 genome.wustl.edu 37 19 746586 746586 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 746586 746586 C T SNP PALM ENST00000338448 human ensembl 74_37 +1 known silent c.936 p.A312 0.003 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 tier1 rs142619819 - 71 0 0.00 13 15 53.57 PANX2 0 genome.wustl.edu 37 22 50617590 50617590 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 50617590 50617590 G - DEL PANX2 ENST00000395842 human ensembl 74_37 +1 known frame_shift_del c.1918 p.G641fs 0.727 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 tier1 65 0 0.00 39 14 26.42 PAOX 0 genome.wustl.edu 37 10 135203245 135203245 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 135203245 135203245 C T SNP PAOX ENST00000278060 human ensembl 74_37 +1 known silent c.1386 p.G462 0.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 tier1 - - 58 0 0.00 36 13 26.53 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 tier1 64 0 0.00 46 20 30.30 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 tier1 154 0 0.00 118 42 26.25 PBRM1 0 genome.wustl.edu 37 3 52712520 52712520 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 52712520 52712520 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known nonsense c.232 p.R78* 0.918 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 84 0 0.00 38 18 32.14 PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 79 0 0.00 45 19 29.69 PCDHA2 0 genome.wustl.edu 37 5 140176082 140176082 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140176082 140176082 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1533 p.H511 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 140 0 0.00 113 35 23.65 PCDHA4 0 genome.wustl.edu 37 5 140188814 140188814 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140188814 140188814 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2042 p.R681Q 0.016 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 93 0 0.00 80 26 24.53 PCDHA6 0 genome.wustl.edu 37 5 140209647 140209647 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140209647 140209647 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1971 p.P657 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 108 0 0.00 91 5 5.15 PCDHB13 0 genome.wustl.edu 37 5 140594245 140594245 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140594245 140594245 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.550 p.R184C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 77 0 0.00 56 18 24.32 PCDHGA12 0 genome.wustl.edu 37 5 140811628 140811628 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140811628 140811628 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1302 p.T434 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 74 0 0.00 57 19 25.00 PCDHGB1 0 genome.wustl.edu 37 5 140731410 140731410 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140731410 140731410 T C SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1583 p.L528P 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 107 0 0.00 84 26 23.64 PCDHGB4 0 genome.wustl.edu 37 5 140768213 140768213 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140768213 140768213 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.762 p.N254 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 265 0 0.00 198 60 23.26 PCNXL2 0 genome.wustl.edu 37 1 233388168 233388168 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 233388168 233388168 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2060 p.S687N 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 94 0 0.00 106 7 6.14 PCNXL2 0 genome.wustl.edu 37 1 233394561 233394561 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 233394561 233394561 G T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.1047 p.S349 0.482 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 156 0 0.00 111 48 30.19 PCSK4 0 genome.wustl.edu 37 19 1487275 1487275 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 1487275 1487275 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known nonsense c.631 p.R211* 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 tier1 - - 43 0 0.00 17 9 34.62 PDCD11 0 genome.wustl.edu 37 10 105200312 105200312 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 105200312 105200312 G T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.4414 p.E1472* 0.142 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 38 0 0.00 46 28 37.84 PDE6A 0 genome.wustl.edu 37 5 149262996 149262996 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 149262996 149262996 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2131 p.V711I 0.995 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 40 0 0.00 25 12 32.43 PELI3 0 genome.wustl.edu 37 11 66235714 66235714 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 66235714 66235714 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 102 0 0.00 81 22 21.36 PER3 0 genome.wustl.edu 37 1 7886760 7886760 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 7886760 7886760 A G SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.2154 p.S718 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 40 0 0.00 33 11 25.00 PFKL 0 genome.wustl.edu 37 21 45738450 45738450 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 45738450 45738450 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1175 p.R392Q 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 76 0 0.00 51 22 30.14 PHF21A 0 genome.wustl.edu 37 11 45955606 45955607 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 45955606 45955607 - G INS PHF21A ENST00000257821 human ensembl 74_37 -1 known frame_shift_ins c.1959_1958 p.A654fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 80 0 0.00 40 14 25.93 PI4KB 0 genome.wustl.edu 37 1 151280100 151280100 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 151280100 151280100 C T SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1168 p.V390M 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 tier1 - - 96 0 0.00 31 19 38.00 PIKFYVE 0 genome.wustl.edu 37 2 209198209 209198209 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 209198209 209198209 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.4134 p.A1378 0.878 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 55 0 0.00 42 13 23.64 PKDCC 0 genome.wustl.edu 37 2 42281252 42281252 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 42281252 42281252 G A SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.839 p.R280H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 tier1 - - 60 0 0.00 32 10 23.81 PLA2G2C 0 genome.wustl.edu 37 1 20499363 20499363 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 20499363 20499363 G A SNP PLA2G2C ENST00000247992 human ensembl 74_37 -1 known silent c.210 p.Y70 0.098 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2C HGNC ENSG00000187980 tier1 - - 67 0 0.00 48 22 31.43 PLCB2 0 genome.wustl.edu 37 15 40584286 40584286 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40584286 40584286 C A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.2505 p.E835D 0.007 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 113 0 0.00 124 7 5.34 PLCB3 0 genome.wustl.edu 37 11 64022382 64022382 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 64022382 64022382 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 tier1 rs201041817 - 65 0 0.00 28 12 30.00 PLCL1 0 genome.wustl.edu 37 2 198950817 198950817 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 198950817 198950817 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2576 p.R859H 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 74 0 0.00 60 21 25.61 PLXNB3 0 genome.wustl.edu 37 X 153043940 153043941 + RNA INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 153043940 153043941 - G INS PLXNB3 ENST00000472415 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors PLXNB3 HGNC ENSG00000198753 tier1 25 0 0.00 4 5 55.56 PM20D2 0 genome.wustl.edu 37 6 89864474 89864474 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 89864474 89864474 A - DEL PM20D2 ENST00000275072 human ensembl 74_37 +1 known frame_shift_del c.765 p.N257fs 1.000 pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 tier1 111 0 0.00 97 19 16.38 PML 0 genome.wustl.edu 37 15 74327683 74327683 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 74327683 74327683 C T SNP PML ENST00000569477 human ensembl 74_37 +1 known missense c.1921 p.R641C 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 rs201226688 - 166 0 0.00 84 44 34.38 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 tier1 45 0 0.00 25 8 24.24 POGLUT1 0 genome.wustl.edu 37 3 119211230 119211230 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 119211230 119211230 C T SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.1124 p.T375M 0.899 pfam_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 tier1 - - 78 0 0.00 55 21 27.63 POU2F2 0 genome.wustl.edu 37 19 42603720 42603720 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42603720 42603720 C A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.460 p.A154S 1.000 prints_TF_octamer pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 tier1 - - 95 0 0.00 47 26 35.62 PRAMEF13 0 genome.wustl.edu 37 1 13448243 13448243 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 13448243 13448243 G A SNP PRAMEF13 ENST00000376132 human ensembl 74_37 -1 known missense c.1232 p.T411M 0.000 NULL NULL - no_errors PRAMEF13 HGNC ENSG00000204495 83 0 0.00 76 16 17.39 PRCC 0 genome.wustl.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 156761535 156761536 - C INS PRCC ENST00000271526 human ensembl 74_37 +1 known frame_shift_ins c.1130_1131 p.Q380fs 0.813:0.065 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 tier1 105 0 0.00 78 24 23.53 PRDM15 0 genome.wustl.edu 37 21 43241431 43241431 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 43241431 43241431 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.3150 p.N1050 0.983 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 233 0 0.00 170 69 28.75 PRDX3 0 genome.wustl.edu 37 10 120934108 120934108 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 120934108 120934108 A - DEL PRDX3 ENST00000463322 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors PRDX3 HGNC ENSG00000165672 tier1 43 0 0.00 11 5 31.25 PRKCB 0 genome.wustl.edu 37 16 24192204 24192204 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 24192204 24192204 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.1488 p.V496 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 93 0 0.00 71 34 32.38 PRKCSH 0 genome.wustl.edu 37 19 11558418 11558418 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 11558418 11558418 G - DEL PRKCSH ENST00000412601 human ensembl 74_37 +1 known frame_shift_del c.1014 p.E340fs 0.469 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 10 0 0.00 6 4 40.00 PRMT3 0 genome.wustl.edu 37 11 20424474 20424474 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20424474 20424474 C T SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known nonsense c.715 p.R239* 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 tier1 - - 121 0 0.00 90 30 25.00 PRRT2 0 genome.wustl.edu 37 16 29825015 29825015 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 29825015 29825015 G C SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.640 p.A214P 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 30 0 0.00 22 3 12.00 PRSS22 0 genome.wustl.edu 37 16 2903155 2903155 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 2903155 2903155 G A SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known missense c.893 p.A298V 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 tier1 - - 64 0 0.00 34 13 27.66 PRSS55 0 genome.wustl.edu 37 8 10396039 10396039 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 10396039 10396039 C T SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known silent c.795 p.Y265 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 tier1 - - 92 0 0.00 33 20 37.74 PSME4 0 genome.wustl.edu 37 2 54125109 54125109 + Silent SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 54125109 54125109 A T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.3504 p.I1168 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 183 0 0.00 135 57 29.69 PTCH1 0 genome.wustl.edu 37 9 98222189 98222189 + RNA SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 98222189 98222189 G T SNP PTCH1 ENST00000547615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 8 0 0.00 4 6 60.00 PTEN 0 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 rs121909229 - 170 0 0.00 102 47 31.54 PTH2R 0 genome.wustl.edu 37 2 209315475 209315475 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 209315475 209315475 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known silent c.855 p.G285 0.978 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 tier1 - - 133 0 0.00 118 30 20.27 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 13 0 0.00 11 2 15.38 PTPN14 0 genome.wustl.edu 37 1 214638008 214638008 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 214638008 214638008 G T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.139 p.L47M 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 43 0 0.00 48 23 32.39 PTPN21 0 genome.wustl.edu 37 14 88945669 88945669 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 88945669 88945669 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known silent c.2106 p.S702 0.002 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 120 0 0.00 50 40 44.44 PTPRB 0 genome.wustl.edu 37 12 70988367 70988367 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 70988367 70988367 C - DEL PTPRB ENST00000334414 human ensembl 74_37 -1 known frame_shift_del c.1396 p.V466fs 0.255 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 68 0 0.00 61 14 18.67 PTPRF 0 genome.wustl.edu 37 1 44044607 44044607 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 44044607 44044607 G A SNP PTPRF ENST00000372405 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 46 0 0.00 18 8 30.77 PWP2 0 genome.wustl.edu 37 21 45545974 45545974 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 45545974 45545974 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.2048 p.A683V 0.001 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 tier1 - - 88 0 0.00 44 20 31.25 PXDNL 0 genome.wustl.edu 37 8 52322074 52322074 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 52322074 52322074 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2110 p.A704T 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 87 0 0.00 47 21 30.88 PXN 0 genome.wustl.edu 37 12 120662050 120662050 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 120662050 120662050 G - DEL PXN ENST00000267257 human ensembl 74_37 -1 known frame_shift_del c.144 p.V49fs 0.019 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 tier1 55 0 0.00 35 12 25.53 QRFPR 0 genome.wustl.edu 37 4 122261678 122261678 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 122261678 122261678 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.428 p.R143K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 45 0 0.00 33 23 41.07 RABGGTB 0 genome.wustl.edu 37 1 76253300 76253300 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 76253300 76253300 T - DEL RABGGTB ENST00000496055 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 59 0 0.00 71 12 14.46 RABL2B 0 genome.wustl.edu 37 22 51208039 51208039 + RNA DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 51208039 51208039 G - DEL RABL2B ENST00000465063 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 tier1 81 0 0.00 53 11 17.19 RAG1 0 genome.wustl.edu 37 11 36595794 36595794 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 36595794 36595794 C T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.940 p.R314W 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 rs121918568 - 72 0 0.00 62 17 21.52 RASGRF2 0 genome.wustl.edu 37 5 80388670 80388670 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 80388670 80388670 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.1441 p.R481C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 118 0 0.00 65 23 26.14 RASL11B 0 genome.wustl.edu 37 4 53730490 53730490 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 53730490 53730490 A - DEL RASL11B ENST00000505041 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RASL11B HGNC ENSG00000128045 tier1 23 0 0.00 24 7 22.58 RELA 0 genome.wustl.edu 37 11 65422011 65422011 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 65422011 65422011 C A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.1494 p.E498D 0.989 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 tier1 - - 121 0 0.00 75 19 20.21 RELB 0 genome.wustl.edu 37 19 45525396 45525396 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 45525396 45525396 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.590 p.S197N 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 - - 86 0 0.00 46 19 29.23 RET 0 genome.wustl.edu 37 10 43601893 43601893 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 43601893 43601893 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.937 p.R313W 0.795 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 26 0 0.00 32 9 21.95 RGL1 0 genome.wustl.edu 37 1 183895409 183895409 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 183895409 183895409 A C SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.2395 p.S799R 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 tier1 - - 42 0 0.00 29 11 27.50 RHBDF1 0 genome.wustl.edu 37 16 109300 109300 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 109300 109300 G - DEL RHBDF1 ENST00000262316 human ensembl 74_37 -1 known frame_shift_del c.1941 p.E648fs 0.008 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 tier1 74 0 0.00 52 6 10.34 RHBDF2 0 genome.wustl.edu 37 17 74469919 74469919 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 74469919 74469919 A G SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known splice_site c.1725+2 e12+2 1.000 - - - no_errors RHBDF2 HGNC ENSG00000129667 tier1 - - 73 0 0.00 43 20 31.75 RHBDF2 0 genome.wustl.edu 37 17 74475824 74475824 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 74475824 74475824 C T SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known missense c.350 p.S117N 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 tier1 - - 60 0 0.00 38 11 22.45 RING1 0 genome.wustl.edu 37 6 33178990 33178990 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 33178990 33178990 G - DEL RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_del c.511 p.E173fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 tier1 225 0 0.00 150 52 25.74 RIPK4 0 genome.wustl.edu 37 21 43161513 43161513 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 43161513 43161513 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1984 p.R662C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 194 0 0.00 106 37 25.87 RLF 0 genome.wustl.edu 37 1 40701810 40701810 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40701810 40701810 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.1436 p.C479Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 116 0 0.00 67 27 28.72 RMI1 0 genome.wustl.edu 37 9 86616512 86616512 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 86616512 86616512 A - DEL RMI1 ENST00000325875 human ensembl 74_37 +1 known frame_shift_del c.611 p.V206fs 1.000 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 101 0 0.00 94 34 26.56 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037845 10037845 + RNA SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 Y 10037845 10037845 C G SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 tier1 - - 19 0 0.00 14 5 26.32 RNASEH2B 0 genome.wustl.edu 37 13 51517523 51517523 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 51517523 51517523 A - DEL RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_del c.503 p.K170fs 0.977 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 tier1 63 0 0.00 55 17 23.61 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 tier1 99 0 0.00 80 22 21.57 RNF145 0 genome.wustl.edu 37 5 158601021 158601021 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 158601021 158601021 C T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.857 p.R286H 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 tier1 - - 50 0 0.00 34 14 29.17 RNF213 0 genome.wustl.edu 37 17 78261820 78261820 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 78261820 78261820 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.468 p.T156 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 26 0 0.00 6 4 40.00 RNF217 0 genome.wustl.edu 37 6 125402642 125402642 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 125402642 125402642 C T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.839 p.A280V 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 tier1 - - 34 0 0.00 14 22 61.11 RORA 0 genome.wustl.edu 37 15 60789759 60789759 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 60789759 60789759 C A SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.1566 p.M522I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 tier1 - - 70 0 0.00 41 16 28.07 RP9 0 genome.wustl.edu 37 7 33134893 33134893 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 33134893 33134893 G A SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.619 p.R207W 0.998 NULL NULL - no_errors RP9 HGNC ENSG00000164610 tier1 - - 57 0 0.00 51 17 25.00 RPH3A 0 genome.wustl.edu 37 12 113307812 113307812 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 113307812 113307812 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.764 p.G255V 0.000 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 66 0 0.00 49 14 22.22 RPL18 0 genome.wustl.edu 37 19 49120043 49120043 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49120043 49120043 C T SNP RPL18 ENST00000549370 human ensembl 74_37 -1 known missense c.229 p.G77S 0.264 NULL NULL - no_errors RPL18 HGNC ENSG00000063177 tier1 - - 194 0 0.00 110 42 27.45 RPL23A 0 genome.wustl.edu 37 17 27049750 27049750 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 27049750 27049750 C A SNP RPL23A ENST00000422514 human ensembl 74_37 +1 known missense c.219 p.H73Q 1.000 superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_L23/L25_N,pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23 - no_errors RPL23A HGNC ENSG00000198242 tier1 - - 91 0 0.00 66 20 23.26 RPS10 0 genome.wustl.edu 37 6 34385236 34385237 + RNA INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 34385236 34385237 - T INS RPS10 ENST00000464218 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.030 - - - no_errors RPS10 HGNC ENSG00000124614 tier1 19 0 0.00 9 14 60.87 RUVBL2 0 genome.wustl.edu 37 19 49513280 49513280 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49513280 49513280 G A SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.620 p.R207H 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 103 0 0.00 55 24 30.38 RWDD4 0 genome.wustl.edu 37 4 184572391 184572391 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 184572391 184572391 G A SNP RWDD4 ENST00000326397 human ensembl 74_37 -1 known silent c.195 p.N65 0.998 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD4 HGNC ENSG00000182552 tier1 - - 156 0 0.00 54 40 42.55 RYR1 0 genome.wustl.edu 37 19 38976509 38976509 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 38976509 38976509 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5214 p.T1738 0.000 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 166 0 0.00 90 47 34.31 RYR2 0 genome.wustl.edu 37 1 237617790 237617790 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 237617790 237617790 C - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.1386 p.P464fs 0.997 pfam_Ca-rel_channel 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_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 52 0 0.00 46 11 19.30 RYR2 0 genome.wustl.edu 37 1 237753973 237753973 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 237753973 237753973 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3835 p.P1279S 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_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 276 0 0.00 176 65 26.97 SALL4 0 genome.wustl.edu 37 20 50400947 50400947 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 50400947 50400947 C T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.3019 p.V1007I 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 tier1 - - 105 0 0.00 58 25 30.12 SAMD9 0 genome.wustl.edu 37 7 92733460 92733460 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 92733460 92733460 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.1951 p.A651T 0.166 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 109 0 0.00 122 26 17.57 SATB1 0 genome.wustl.edu 37 3 18391064 18391064 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 18391064 18391064 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.1986 p.T662 0.809 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 tier1 - - 82 0 0.00 65 25 27.78 SBF2 0 genome.wustl.edu 37 11 10064513 10064513 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 10064513 10064513 C T SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.157 p.G53R 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 75 0 0.00 50 10 16.67 SCNN1D 0 genome.wustl.edu 37 1 1223116 1223116 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 1223116 1223116 G A SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1463 p.G488D 0.393 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 tier1 - - 29 0 0.00 17 4 19.05 SCNN1G 0 genome.wustl.edu 37 16 23197805 23197805 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 23197805 23197805 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.213 p.C71 0.761 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 121 0 0.00 58 34 36.96 SCRIB 0 genome.wustl.edu 37 8 144874281 144874281 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 144874281 144874281 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4537 p.A1513T 0.997 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 tier1 - - 38 0 0.00 27 10 27.03 SCYL1 0 genome.wustl.edu 37 11 65302728 65302728 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 65302728 65302728 G A SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.1261 p.E421K 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 183 0 0.00 91 34 27.20 SEC62 0 genome.wustl.edu 37 3 169700664 169700664 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 169700664 169700664 A - DEL SEC62 ENST00000337002 human ensembl 74_37 +1 known frame_shift_del c.421 p.D144fs 1.000 pfam_Sec62,superfamily_ABC1_TM_dom pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 tier1 21 0 0.00 26 13 33.33 SEMA3E 0 genome.wustl.edu 37 7 82996915 82996915 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 82996915 82996915 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.2315 p.T772M 0.038 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 rs147014544 - 262 0 0.00 155 84 34.85 SEMA5B 0 genome.wustl.edu 37 3 122632189 122632189 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 122632189 122632189 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2525 p.T842M 0.997 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 18 0 0.00 10 4 28.57 SERPINB1 0 genome.wustl.edu 37 6 2836486 2836487 + Splice_Site INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 2836486 2836487 - A INS SERPINB1 ENST00000380739 human ensembl 74_37 -1 known splice_site_ins c.425-3_425-2 e4-2 1.000:0.359 - - - no_errors SERPINB1 HGNC ENSG00000021355 tier1 43 0 0.00 42 21 33.33 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 14 0 0.00 10 5 33.33 SETX 0 genome.wustl.edu 37 9 135202646 135202646 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 135202646 135202646 A G SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.4339 p.L1447 0.003 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 161 0 0.00 113 43 27.56 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 27 0 0.00 18 6 25.00 SH3BP1 0 genome.wustl.edu 37 22 38051362 38051362 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 38051362 38051362 C - DEL SH3BP1 ENST00000357436 human ensembl 74_37 +1 known frame_shift_del c.1777 p.P594fs 0.004 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 11 0 0.00 11 4 26.67 SIGLEC10 0 genome.wustl.edu 37 19 51919372 51919372 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 51919372 51919372 T - DEL SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known frame_shift_del c.804 p.G269fs 0.354 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 tier1 23 0 0.00 13 3 18.75 SIGLEC5 0 genome.wustl.edu 37 19 52131257 52131257 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52131257 52131257 G - DEL SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known frame_shift_del c.827 p.P276fs 0.028 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 178 0 0.00 112 26 18.84 SIM1 0 genome.wustl.edu 37 6 100841490 100841490 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 100841490 100841490 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.1443 p.T481 0.251 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 87 0 0.00 73 28 27.72 SIMC1 0 genome.wustl.edu 37 5 175763760 175763760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 175763760 175763760 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.2152 p.R718C 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 tier1 - - 213 0 0.00 150 60 28.57 SLC12A5 0 genome.wustl.edu 37 20 44680472 44680472 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 44680472 44680472 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2409 p.R803 0.974 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 128 0 0.00 112 35 23.81 SLC18A2 0 genome.wustl.edu 37 10 119003614 119003614 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 119003614 119003614 C T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.254 p.S85L 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 - - 86 0 0.00 56 25 30.86 SLC1A4 0 genome.wustl.edu 37 2 65217262 65217262 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 65217262 65217262 C A SNP SLC1A4 ENST00000234256 human ensembl 74_37 +1 known missense c.485 p.P162H 0.281 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 tier1 - - 27 0 0.00 16 5 23.81 SLC25A20 0 genome.wustl.edu 37 3 48916807 48916807 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 48916807 48916807 A T SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known missense c.401 p.I134N 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 SLC25A20 HGNC ENSG00000178537 tier1 - - 357 0 0.00 154 96 38.40 SLC25A31 0 genome.wustl.edu 37 4 128665869 128665869 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 128665869 128665869 G A SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.275 p.R92Q 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 tier1 - - 104 0 0.00 44 37 45.68 SLC26A10 0 genome.wustl.edu 37 12 58016641 58016641 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 58016641 58016641 T C SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.863 p.L288P 0.996 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 tier1 - - 92 0 0.00 60 32 34.78 SLC27A2 0 genome.wustl.edu 37 15 50526076 50526076 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 50526076 50526076 C G SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.1567 p.R523G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 34 0 0.00 35 2 5.41 SLC27A6 0 genome.wustl.edu 37 5 128302015 128302015 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 128302015 128302015 G T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.185 p.S62I 0.999 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 127 0 0.00 81 36 30.77 SLC43A3 0 genome.wustl.edu 37 11 57184137 57184137 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 57184137 57184137 G A SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known silent c.678 p.C226 0.860 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 tier1 - - 41 0 0.00 20 11 35.48 SLC47A2 0 genome.wustl.edu 37 17 19611794 19611796 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 19611794 19611796 CTC - DEL SLC47A2 ENST00000325411 human ensembl 74_37 -1 known in_frame_del c.558_556 p.E186in_frame_del 0.000:0.000:0.003 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 tier1 332 0 0.00 236 57 19.45 SLC4A10 0 genome.wustl.edu 37 2 162820693 162820693 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 162820693 162820693 G T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.2911 p.D971Y 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 21 0 0.00 11 11 50.00 SLC4A4 0 genome.wustl.edu 37 4 72306384 72306384 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 72306384 72306384 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.859 p.V287M 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 rs201871554 - 131 0 0.00 92 40 30.30 SLC7A2 0 genome.wustl.edu 37 8 17412506 17412506 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 17412506 17412506 G T SNP SLC7A2 ENST00000398090 human ensembl 74_37 +1 known silent c.1227 p.R409 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 - - 113 0 0.00 61 38 38.38 SLC8A3 0 genome.wustl.edu 37 14 70634434 70634434 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 70634434 70634434 G T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.706 p.L236I 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 61 0 0.00 14 16 53.33 SLC9A3R1 0 genome.wustl.edu 37 17 72745188 72745190 + In_Frame_Del DEL AGA AGA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 72745188 72745190 AGA - DEL SLC9A3R1 ENST00000262613 human ensembl 74_37 +1 known in_frame_del c.203_205 p.K69in_frame_del 1.000:1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 tier1 25 0 0.00 15 3 16.67 SLC9B1 0 genome.wustl.edu 37 4 103911030 103911030 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 103911030 103911030 T C SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.138 p.I46M 0.002 NULL pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 tier1 - - 23 0 0.00 21 7 25.00 SLCO3A1 0 genome.wustl.edu 37 15 92706177 92706177 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 92706177 92706177 A T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1945 p.R649W 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 82 0 0.00 67 30 30.93 SLCO5A1 0 genome.wustl.edu 37 8 70585156 70585156 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 70585156 70585156 G T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2495 p.S832Y 0.789 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 76 0 0.00 64 15 18.99 SMARCD1 0 genome.wustl.edu 37 12 50480099 50480099 + Silent SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 50480099 50480099 C G SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known silent c.333 p.V111 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 tier1 - - 76 0 0.00 28 21 42.86 SMPD1 0 genome.wustl.edu 37 11 6413286 6413286 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6413286 6413286 C - DEL SMPD1 ENST00000342245 human ensembl 74_37 +1 known frame_shift_del c.991 p.F333fs 1.000 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 tier1 72 0 0.00 56 15 21.13 SMTNL1 0 genome.wustl.edu 37 11 57310172 57310172 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 57310172 57310172 G A SNP SMTNL1 ENST00000457912 human ensembl 74_37 +1 known silent c.111 p.A37 0.007 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 tier1 - - 47 0 0.00 23 10 30.30 SNHG14 0 genome.wustl.edu 37 15 25349805 25349805 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 25349805 25349805 A - DEL SNHG14 ENST00000516123 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 102 0 0.00 75 29 27.88 SNORA67 0 genome.wustl.edu 37 17 7484874 7484875 + RNA INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7484874 7484875 - G INS SNORA67 ENST00000581621 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.006 - - - no_errors SNORA67 HGNC ENSG00000264772 tier1 71 0 0.00 36 6 14.29 SNRNP200 0 genome.wustl.edu 37 2 96953611 96953611 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 96953611 96953611 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.3355 p.D1119N 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 85 0 0.00 75 24 23.76 SNTG1 0 genome.wustl.edu 37 8 51705315 51705315 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 51705315 51705315 T - DEL SNTG1 ENST00000518864 human ensembl 74_37 +1 known frame_shift_del c.1480 p.L495fs 0.957 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 129 0 0.00 100 32 24.24 SNX9 0 genome.wustl.edu 37 6 158359772 158359772 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 158359772 158359772 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.1641 p.A547 0.002 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 tier1 - - 331 0 0.00 148 102 40.64 SOHLH1 0 genome.wustl.edu 37 9 138585512 138585512 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 138585512 138585512 A G SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known silent c.1095 p.D365 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 tier1 - - 13 0 0.00 9 6 40.00 SORBS3 0 genome.wustl.edu 37 8 22412434 22412434 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 22412434 22412434 C T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.161 p.A54V 0.965 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 tier1 - - 239 0 0.00 76 63 45.32 SOS1 0 genome.wustl.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 39222520 39222520 T - DEL SOS1 ENST00000402219 human ensembl 74_37 -1 known frame_shift_del c.3090 p.K1030fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 85 0 0.00 95 15 13.64 SP100 0 genome.wustl.edu 37 2 231281034 231281034 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 231281034 231281034 T C SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.23 p.L8P 0.007 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 39 0 0.00 28 8 22.22 SP100 0 genome.wustl.edu 37 2 231406715 231406715 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 231406715 231406715 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.2512 p.R838C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 71 0 0.00 51 29 36.25 SP2 0 genome.wustl.edu 37 17 46002386 46002386 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 46002386 46002386 G A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.1474 p.G492R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 tier1 - - 83 0 0.00 90 33 26.83 SPAG4 0 genome.wustl.edu 37 20 34207645 34207646 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 34207645 34207646 - C INS SPAG4 ENST00000374273 human ensembl 74_37 +1 known frame_shift_ins c.1054_1055 p.R354fs 0.996:0.997 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 tier1 88 0 0.00 53 20 27.40 SPATA2 0 genome.wustl.edu 37 20 48524790 48524790 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 48524790 48524790 A T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.238 p.S80T 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 tier1 - - 148 0 0.00 83 51 38.06 SPATA31D1 0 genome.wustl.edu 37 9 84608215 84608215 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 84608215 84608215 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2830 p.L944I 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 123 0 0.00 102 19 15.70 SPATA31D5P 0 genome.wustl.edu 37 9 84530710 84530710 + RNA SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 84530710 84530710 G T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 280 0 0.00 210 68 24.46 SPATA6 0 genome.wustl.edu 37 1 48821392 48821392 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 48821392 48821392 G A SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known missense c.1144 p.R382W 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 tier1 rs148746931 - 109 0 0.00 76 18 19.15 SPDL1 0 genome.wustl.edu 37 5 169028380 169028380 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 169028380 169028380 G A SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.1421 p.G474E 0.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 72 0 0.00 89 5 5.32 SPHK2 0 genome.wustl.edu 37 19 49129311 49129311 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49129311 49129311 C - DEL SPHK2 ENST00000443164 human ensembl 74_37 +1 known frame_shift_del c.389 p.T132fs 0.997 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 102 0 0.00 71 16 18.39 SPHK2 0 genome.wustl.edu 37 19 49129386 49129386 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49129386 49129386 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.464 p.P155L 0.545 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 83 0 0.00 35 21 37.50 SPIRE1 0 genome.wustl.edu 37 18 12463380 12463380 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 12463380 12463380 C T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known silent c.1608 p.L536 0.998 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 96 0 0.00 70 32 31.07 SPTB 0 genome.wustl.edu 37 14 65253771 65253771 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 65253771 65253771 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2912 p.T971M 0.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 rs138556050 - 68 0 0.00 26 11 29.73 SPTBN5 0 genome.wustl.edu 37 15 42168337 42168337 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 42168337 42168337 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4097 p.R1366H 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 73 0 0.00 37 21 36.21 SRGAP1 0 genome.wustl.edu 37 12 64377821 64377821 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 64377821 64377821 A - DEL SRGAP1 ENST00000355086 human ensembl 74_37 +1 known frame_shift_del c.162 p.A57fs 0.938 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 157 0 0.00 118 38 24.36 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 126137087 126137087 T C SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.509 p.K170R 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 - - 332 0 0.00 226 119 33.90 SRRM1 0 genome.wustl.edu 37 1 24996658 24996658 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24996658 24996658 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2288 p.R763Q 0.955 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 tier1 rs201082864 - 242 0 0.00 154 60 28.04 SRRM1 0 genome.wustl.edu 37 1 24996760 24996760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24996760 24996760 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2390 p.P797L 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 122 0 0.00 89 46 34.07 SSB 0 genome.wustl.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 170665008 170665008 A - DEL SSB ENST00000260956 human ensembl 74_37 +1 known frame_shift_del c.571 p.N193fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 tier1 68 0 0.00 36 19 34.55 SSBP2 0 genome.wustl.edu 37 5 80932421 80932421 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 80932421 80932421 T - DEL SSBP2 ENST00000320672 human ensembl 74_37 -1 known frame_shift_del c.152 p.N51fs 1.000 prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 tier1 75 0 0.00 40 9 18.37 SSUH2 0 genome.wustl.edu 37 3 8671396 8671396 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 8671396 8671396 T A SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.542 p.H181L 0.904 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 - - 116 0 0.00 85 27 24.11 ST6GALNAC6 0 genome.wustl.edu 37 9 130653086 130653086 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 130653086 130653086 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known silent c.534 p.T178 0.006 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 tier1 - - 125 0 0.00 69 32 31.68 STAG1 0 genome.wustl.edu 37 3 136060320 136060320 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 136060320 136060320 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3520 p.N1174D 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 71 0 0.00 48 15 23.81 STON1 0 genome.wustl.edu 37 2 48822381 48822381 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 48822381 48822381 G - DEL STON1 ENST00000309835 human ensembl 74_37 +1 known frame_shift_del c.2148 p.K717fs 1.000 pirsf_Stonin pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1 HGNC ENSG00000243244 tier1 51 0 0.00 45 12 21.05 STYXL1 0 genome.wustl.edu 37 7 75657995 75657995 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 75657995 75657995 C T SNP STYXL1 ENST00000248600 human ensembl 74_37 -1 known missense c.130 p.E44K 0.997 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 tier1 - - 57 0 0.00 29 12 29.27 SUCO 0 genome.wustl.edu 37 1 172554176 172554176 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 172554176 172554176 T C SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.1973 p.V658A 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 tier1 - - 48 0 0.00 25 6 18.75 SUGP2 0 genome.wustl.edu 37 19 19115267 19115267 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 19115267 19115267 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2639 p.P880L 0.237 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 tier1 - - 89 0 0.00 28 15 34.88 SULT1B1 0 genome.wustl.edu 37 4 70620844 70620844 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 70620844 70620844 A C SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.92 p.I31S 0.002 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 tier1 - - 128 0 0.00 118 33 21.85 SUSD2 0 genome.wustl.edu 37 22 24581723 24581723 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 24581723 24581723 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1165 p.G389S 0.983 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 - - 28 0 0.00 16 6 27.27 SVILP1 0 genome.wustl.edu 37 10 30986437 30986437 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 30986437 30986437 C T SNP SVILP1 ENST00000435645 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SVILP1 HGNC ENSG00000234814 tier1 - - 22 0 0.00 2 4 66.67 SYNCRIP 0 genome.wustl.edu 37 6 86324913 86324913 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 86324913 86324913 C T SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1433 p.R478H 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 tier1 - - 53 0 0.00 57 15 20.83 SYNE1 0 genome.wustl.edu 37 6 152651515 152651515 + Silent SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 152651515 152651515 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.14305 p.R4769 0.995 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 76 0 0.00 30 39 56.52 SYNE2 0 genome.wustl.edu 37 14 64519522 64519522 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 64519522 64519522 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.8891 p.R2964H 0.002 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 63 0 0.00 17 16 48.48 SYNRG 0 genome.wustl.edu 37 17 35937523 35937523 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 35937523 35937523 C G SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.778 p.E260Q 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 294 0 0.00 224 53 19.13 TAF6 0 genome.wustl.edu 37 7 99711885 99711885 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99711885 99711885 G A SNP TAF6 ENST00000472509 human ensembl 74_37 -1 putative missense c.119 p.P40L 0.038 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 tier1 - - 53 0 0.00 35 36 50.70 TANGO2 0 genome.wustl.edu 37 22 20024463 20024463 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 20024463 20024463 G T SNP TANGO2 ENST00000434570 human ensembl 74_37 +1 known nonsense c.25 p.G9* 0.000 NULL pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 tier1 - - 78 0 0.00 57 20 25.97 TBC1D28 0 genome.wustl.edu 37 17 18539885 18539885 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 18539885 18539885 C T SNP TBC1D28 ENST00000345096 human ensembl 74_37 -1 known missense c.523 p.V175M 0.001 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D28 HGNC ENSG00000189375 tier1 rs202167244 - 209 0 0.00 178 63 26.14 TBC1D3B 0 genome.wustl.edu 37 17 34500228 34500228 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 34500228 34500228 C T SNP TBC1D3B ENST00000398801 human ensembl 74_37 -1 known nonsense c.255 p.W85* 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3B HGNC ENSG00000224226 tier1 - - 324 0 0.00 216 100 31.65 TCEB3 0 genome.wustl.edu 37 1 24078022 24078024 + In_Frame_Del DEL GAA GAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24078022 24078024 GAA - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known in_frame_del c.1005_1007 p.K338in_frame_del 0.892:0.989:0.992 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 tier1 74 0 0.00 44 19 30.16 TCEB3B 0 genome.wustl.edu 37 18 44559883 44559883 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 44559883 44559883 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1753 p.R585W 0.924 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 88 0 0.00 37 20 35.09 TERF1 0 genome.wustl.edu 37 8 73942616 73942616 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 73942616 73942616 A G SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known silent c.933 p.T311 0.996 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 tier1 - - 11 0 0.00 21 6 22.22 TEX261 0 genome.wustl.edu 37 2 71219063 71219064 + Frame_Shift_Del DEL GG GG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 71219063 71219064 GG - DEL TEX261 ENST00000272438 human ensembl 74_37 -1 known frame_shift_del c.201_200 p.T67fs 0.958:0.987 pfam_Transmembrane_adaptor_Erv26 pfam_Transmembrane_adaptor_Erv26 - no_errors TEX261 HGNC ENSG00000144043 tier1 38 0 0.00 34 2 5.56 TG 0 genome.wustl.edu 37 8 134145764 134145764 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 134145764 134145764 C - DEL TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_del c.8048 p.W2685fs 0.002 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 151 0 0.00 103 27 20.77 THSD7B 0 genome.wustl.edu 37 2 138169326 138169326 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 138169326 138169326 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2843 p.R948Q 0.809 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 135 0 0.00 94 35 27.13 TIMP3 0 genome.wustl.edu 37 22 33245493 33245493 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 33245493 33245493 C T SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.176 p.T59M 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 tier1 - - 30 0 0.00 25 10 28.57 TLL1 0 genome.wustl.edu 37 4 166976413 166976413 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 166976413 166976413 C A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1710 p.N570K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 61 0 0.00 35 4 10.26 TLX3 0 genome.wustl.edu 37 5 170736525 170736525 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 170736525 170736525 G A SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known silent c.156 p.P52 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 16 0 0.00 12 4 25.00 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 tier1 99 0 0.00 100 35 25.93 TM9SF4 0 genome.wustl.edu 37 20 30729460 30729460 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 30729460 30729460 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known silent c.390 p.Y130 0.241 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 tier1 - - 158 0 0.00 145 9 5.84 TMC8 0 genome.wustl.edu 37 17 76134468 76134468 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 76134468 76134468 C A SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known silent c.1572 p.P524 0.095 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 tier1 - - 142 0 0.00 107 11 9.32 TMEM174 0 genome.wustl.edu 37 5 72469397 72469397 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 72469397 72469397 G A SNP TMEM174 ENST00000296776 human ensembl 74_37 +1 known silent c.327 p.P109 0.017 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 tier1 - - 135 0 0.00 94 34 26.56 TMEM184B 0 genome.wustl.edu 37 22 38643939 38643939 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 38643939 38643939 G A SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.29 p.P10L 0.935 NULL pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 14 0 0.00 7 2 22.22 TMEM214 0 genome.wustl.edu 37 2 27263029 27263029 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27263029 27263029 C T SNP TMEM214 ENST00000238788 human ensembl 74_37 +1 known missense c.1754 p.A585V 0.952 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 tier1 - - 89 0 0.00 63 21 25.00 TMEM41A 0 genome.wustl.edu 37 3 185214766 185214766 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 185214766 185214766 C T SNP TMEM41A ENST00000421852 human ensembl 74_37 -1 known silent c.123 p.S41 0.267 NULL pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 tier1 - - 8 0 0.00 15 5 25.00 TMPRSS11A 0 genome.wustl.edu 37 4 68784830 68784830 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 68784830 68784830 G A SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known silent c.822 p.Y274 0.148 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 - - 118 0 0.00 83 36 30.25 TNRC18 0 genome.wustl.edu 37 7 5353119 5353119 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 5353119 5353119 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.7403 p.G2468D 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 55 0 0.00 31 14 31.11 TP53 0 genome.wustl.edu 37 17 7577085 7577085 + Nonsense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7577085 7577085 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.853 p.E285* 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 58 0 0.00 47 14 22.95 TP53 0 genome.wustl.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7578475 7578475 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.455 p.P152L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 97 0 0.00 70 33 32.04 TP53I13 0 genome.wustl.edu 37 17 27899414 27899414 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 27899414 27899414 G - DEL TP53I13 ENST00000301057 human ensembl 74_37 +1 known frame_shift_del c.768 p.A258fs 0.001 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 tier1 110 0 0.00 97 27 21.77 TP73 0 genome.wustl.edu 37 1 3647593 3647593 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 3647593 3647593 C T SNP TP73 ENST00000378295 human ensembl 74_37 +1 known missense c.1448 p.P483L 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 tier1 - - 49 0 0.00 32 11 25.58 TRA2B 0 genome.wustl.edu 37 3 185641788 185641788 + RNA SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 185641788 185641788 A G SNP TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 tier1 - - 30 0 0.00 67 5 6.94 TRANK1 0 genome.wustl.edu 37 3 36896820 36896820 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 36896820 36896820 C - DEL TRANK1 ENST00000429976 human ensembl 74_37 -1 known frame_shift_del c.4261 p.D1421fs 1.000 pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 193 0 0.00 63 53 45.69 TRAPPC2P1 0 genome.wustl.edu 37 19 57876260 57876260 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57876260 57876260 T C SNP TRAPPC2P1 ENST00000543226 human ensembl 74_37 +1 putative missense c.59 p.M20T 1.000 pfam_Sedlin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 tier1 - - 23 0 0.00 20 13 39.39 TRIM23 0 genome.wustl.edu 37 5 64900775 64900775 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 64900775 64900775 A G SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.1142 p.I381T 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 tier1 - - 133 0 0.00 80 31 27.93 TRIM3 0 genome.wustl.edu 37 11 6470404 6470404 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6470404 6470404 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.2089 p.D697N 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 54 0 0.00 59 8 11.94 TRIM33 0 genome.wustl.edu 37 1 114952868 114952868 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 114952868 114952868 G - DEL TRIM33 ENST00000358465 human ensembl 74_37 -1 known frame_shift_del c.2132 p.P711fs 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 tier1 104 0 0.00 71 14 16.47 TRIM35 0 genome.wustl.edu 37 8 27146715 27146715 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 27146715 27146715 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.868 p.R290C 0.996 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 tier1 - - 36 0 0.00 9 17 65.38 TRIM9 0 genome.wustl.edu 37 14 51464842 51464842 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 51464842 51464842 T C SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1517 p.N506S 0.893 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 65 0 0.00 32 14 30.43 TRIT1 0 genome.wustl.edu 37 1 40313667 40313667 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40313667 40313667 G A SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.806 p.S269L 0.024 pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 tier1 rs149680997 - 74 0 0.00 49 20 28.99 TRO 0 genome.wustl.edu 37 X 54949723 54949723 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 54949723 54949723 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.758 p.R253Q 0.044 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 12 0 0.00 9 9 50.00 TSC2 0 genome.wustl.edu 37 16 2114386 2114386 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 2114386 2114386 C T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1557 p.C519 1.000 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 176 0 0.00 92 53 36.55 TSPAN9 0 genome.wustl.edu 37 12 3389597 3389597 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 3389597 3389597 A G SNP TSPAN9 ENST00000011898 human ensembl 74_37 +1 known missense c.380 p.H127R 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN9 HGNC ENSG00000011105 tier1 - - 68 0 0.00 45 17 27.42 TSPY2 0 genome.wustl.edu 37 Y 6115677 6115677 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 Y 6115677 6115677 T C SNP TSPY2 ENST00000320701 human ensembl 74_37 +1 known silent c.639 p.N213 0.909 pfam_NAP_family pfam_NAP_family - no_errors TSPY2 HGNC ENSG00000168757 tier1 - - 219 0 0.00 199 46 18.78 TSTD2 0 genome.wustl.edu 37 9 100364941 100364941 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 100364941 100364941 G A SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.1361 p.A454V 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 tier1 rs141485506 - 183 0 0.00 117 119 50.42 TTC39A 0 genome.wustl.edu 37 1 51753742 51753742 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 51753742 51753742 C T SNP TTC39A ENST00000534098 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 11 0 0.00 4 8 66.67 TTLL12 0 genome.wustl.edu 37 22 43575870 43575870 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 43575870 43575870 G T SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.683 p.P228H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 tier1 - - 69 0 0.00 33 16 32.65 TTN 0 genome.wustl.edu 37 2 179411328 179411328 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179411328 179411328 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.87123 p.Y29041 0.338 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 31 9 22.50 TTN 0 genome.wustl.edu 37 2 179414981 179414981 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179414981 179414981 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.83880 p.F27960 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 90 0 0.00 58 19 24.68 TTN 0 genome.wustl.edu 37 2 179641889 179641889 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179641889 179641889 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4801 p.Y1601H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 165 0 0.00 117 38 24.52 TUBGCP5 0 genome.wustl.edu 37 15 22863109 22863109 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 22863109 22863109 A - DEL TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known frame_shift_del c.2130 p.D713fs 0.957 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 98 0 0.00 66 30 31.25 TUSC3 0 genome.wustl.edu 37 8 15601051 15601051 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 15601051 15601051 C T SNP TUSC3 ENST00000510836 human ensembl 74_37 +1 known missense c.803 p.P268L 1.000 NULL pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 tier1 - - 198 0 0.00 71 45 38.79 TUT1 0 genome.wustl.edu 37 11 62346096 62346096 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 62346096 62346096 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.1211 p.R404H 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 tier1 - - 142 0 0.00 71 22 23.66 UBAP2L 0 genome.wustl.edu 37 1 154227293 154227295 + RNA DEL TTT TTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 154227293 154227295 TTT - DEL UBAP2L ENST00000495676 human ensembl 74_37 +1 known rna NULL NULL 0.026:0.101:0.690 - - - no_errors UBAP2L HGNC ENSG00000143569 tier1 19 0 0.00 9 6 40.00 UBQLN1 0 genome.wustl.edu 37 9 86294790 86294790 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 86294790 86294790 A G SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.611 p.L204P 1.000 smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 tier1 - - 236 0 0.00 168 69 29.11 UBR4 0 genome.wustl.edu 37 1 19493636 19493636 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 19493636 19493636 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.3989 p.S1330N 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 86 0 0.00 51 37 42.05 UNC79 0 genome.wustl.edu 37 14 94069633 94069633 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 94069633 94069633 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3623 p.L1208S 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 143 0 0.00 47 29 38.16 UNC79 0 genome.wustl.edu 37 14 94088838 94088838 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 94088838 94088838 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.5325 p.S1775 0.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 99 0 0.00 28 35 55.56 USP1 0 genome.wustl.edu 37 1 62916397 62916397 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 62916397 62916397 T C SNP USP1 ENST00000339950 human ensembl 74_37 +1 known silent c.2103 p.S701 0.998 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 tier1 - - 167 0 0.00 109 63 36.63 USP21 0 genome.wustl.edu 37 1 161132826 161132826 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 161132826 161132826 C A SNP USP21 ENST00000289865 human ensembl 74_37 +1 known silent c.1011 p.P337 0.741 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 tier1 - - 174 0 0.00 112 41 26.80 USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 tier1 43 0 0.00 19 2 9.52 USP39 0 genome.wustl.edu 37 2 85857947 85857947 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 85857947 85857947 G A SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.827 p.R276H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 143 0 0.00 116 42 26.58 USP48 0 genome.wustl.edu 37 1 22033386 22033386 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 22033386 22033386 A - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975 p.S659fs 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 33 0 0.00 39 16 29.09 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968773 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 Y 14968773 14968773 A - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors USP9Y HGNC ENSG00000114374 tier1 11 0 0.00 5 3 37.50 VARS2 0 genome.wustl.edu 37 6 30889902 30889902 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 30889902 30889902 C A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.1906 p.L636I 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 tier1 - - 179 0 0.00 43 92 68.15 VCAN 0 genome.wustl.edu 37 5 82815520 82815520 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 82815520 82815520 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.1395 p.G465 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 102 0 0.00 91 19 17.27 VDAC3 0 genome.wustl.edu 37 8 42260930 42260930 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 42260930 42260930 G A SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 tier1 - - 87 0 0.00 40 14 25.93 VPS16 0 genome.wustl.edu 37 20 2840721 2840721 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 2840721 2840721 G A SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.164 p.R55Q 0.882 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 87 0 0.00 27 16 37.21 VPS33A 0 genome.wustl.edu 37 12 122745872 122745872 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 122745872 122745872 T C SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known missense c.419 p.Y140C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 tier1 - - 127 0 0.00 96 44 31.43 VPS52 0 genome.wustl.edu 37 6 33235075 33235075 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 33235075 33235075 G A SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.1015 p.R339C 1.000 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 tier1 - - 110 0 0.00 32 67 67.68 VSIG1 0 genome.wustl.edu 37 X 107310301 107310301 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 107310301 107310301 G A SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known missense c.457 p.D153N 0.985 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 tier1 - - 135 0 0.00 149 12 7.45 VWA3B 0 genome.wustl.edu 37 2 98809407 98809407 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 98809407 98809407 C T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1513 p.H505Y 0.001 smart_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 tier1 - - 89 0 0.00 73 25 25.51 VWA7 0 genome.wustl.edu 37 6 31743197 31743198 + Frame_Shift_Del DEL TG TG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 31743197 31743198 TG - DEL VWA7 ENST00000375686 human ensembl 74_37 -1 known frame_shift_del c.523_522 p.Y174fs 1.000:1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 tier1 59 0 0.00 35 12 25.53 WDR52-AS1 0 genome.wustl.edu 37 3 113122879 113122879 + RNA SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 113122879 113122879 A G SNP WDR52-AS1 ENST00000473329 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors WDR52-AS1 HGNC ENSG00000243849 tier1 - - 88 0 0.00 57 28 32.56 WDR62 0 genome.wustl.edu 37 19 36583594 36583594 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36583594 36583594 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known silent c.2214 p.C738 0.317 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 tier1 - - 185 0 0.00 100 38 27.54 WDR88 0 genome.wustl.edu 37 19 33623132 33623132 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 33623132 33623132 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.57 p.P19 0.023 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 tier1 - - 79 0 0.00 44 26 37.14 WEE2-AS1 0 genome.wustl.edu 37 7 141423728 141423729 + RNA INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 141423728 141423729 - T INS WEE2-AS1 ENST00000459753 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.003 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 tier1 27 0 0.00 26 9 25.71 WNK1 0 genome.wustl.edu 37 12 994696 994696 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 994696 994696 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.6220 p.I2074V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 425 0 0.00 341 147 30.12 WNK2 0 genome.wustl.edu 37 9 96070720 96070720 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 96070720 96070720 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6481 p.D2161N 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 23 0 0.00 17 8 32.00 WRAP53 0 genome.wustl.edu 37 17 7605866 7605866 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7605866 7605866 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.1160 p.R387H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 - - 27 0 0.00 18 5 21.74 XIRP2 0 genome.wustl.edu 37 2 168099432 168099432 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 168099432 168099432 A - DEL XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_del c.1530 p.N512fs 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 36 0 0.00 27 7 20.59 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 14 0 0.00 13 7 35.00 XYLT1 0 genome.wustl.edu 37 16 17451881 17451881 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 17451881 17451881 G T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.390 p.T130 0.998 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 44 0 0.00 33 11 25.00 XYLT2 0 genome.wustl.edu 37 17 48432272 48432272 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48432272 48432272 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.862 p.R288W 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 111 0 0.00 103 36 25.90 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 103 0 0.00 81 18 18.18 YBX2 0 genome.wustl.edu 37 17 7194412 7194414 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7194412 7194414 CTT - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known in_frame_del c.459_457 p.K153in_frame_del 1.000:1.000:1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 tier1 176 0 0.00 125 37 22.84 ZAP70 0 genome.wustl.edu 37 2 98355873 98355873 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 98355873 98355873 A C SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1772 p.Q591P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 112 0 0.00 77 23 23.00 ZBTB38 0 genome.wustl.edu 37 3 141164024 141164024 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 141164024 141164024 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.2797 p.M935fs 0.570 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 tier1 63 0 0.00 43 16 27.12 ZCCHC11 0 genome.wustl.edu 37 1 52896774 52896774 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 52896774 52896774 A C SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.4622 p.V1541G 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 74 0 0.00 60 29 32.58 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 20130522 20130522 C - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1369 p.T459fs 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 tier1 49 0 0.00 51 14 21.54 ZFHX4 0 genome.wustl.edu 37 8 77764051 77764051 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 77764051 77764051 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4894 p.V1632L 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 60 0 0.00 50 16 24.24 ZFP30 0 genome.wustl.edu 37 19 38127190 38127190 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 38127190 38127190 A G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.252 p.Y84 0.038 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 ZFP30 HGNC ENSG00000120784 tier1 - - 27 0 0.00 15 8 34.78 ZFP69 0 genome.wustl.edu 37 1 40961369 40961369 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40961369 40961369 G A SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known missense c.1219 p.G407R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 tier1 rs41303439 - 100 0 0.00 51 23 31.08 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 tier1 79 0 0.00 30 10 25.00 ZNF112 0 genome.wustl.edu 37 19 44832040 44832040 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 44832040 44832040 C T SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.2339 p.R780H 0.011 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF112 HGNC ENSG00000062370 tier1 - - 136 0 0.00 131 59 31.05 ZNF141 0 genome.wustl.edu 37 4 338129 338129 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 338129 338129 G A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.136 p.A46T 0.220 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF141 HGNC ENSG00000131127 tier1 rs75245145 - 53 0 0.00 59 7 10.61 ZNF141 0 genome.wustl.edu 37 4 338156 338156 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 338156 338156 T A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.163 p.C55S 0.084 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF141 HGNC ENSG00000131127 tier1 rs79227679 - 66 0 0.00 76 7 8.43 ZNF141 0 genome.wustl.edu 37 4 338186 338186 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 338186 338186 G T SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.193 p.V65L 0.361 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF141 HGNC ENSG00000131127 tier1 rs78725891 - 69 0 0.00 83 7 7.78 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 27 0 0.00 17 2 10.53 ZNF185 0 genome.wustl.edu 37 X 152128370 152128370 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 152128370 152128370 A G SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1630 p.S544G 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 29 0 0.00 11 15 57.69 ZNF19 0 genome.wustl.edu 37 16 71510004 71510004 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 71510004 71510004 C A SNP ZNF19 ENST00000288177 human ensembl 74_37 -1 known missense c.446 p.G149V 0.351 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 ZNF19 HGNC ENSG00000157429 tier1 - - 42 0 0.00 24 15 38.46 ZNF197 0 genome.wustl.edu 37 3 44683553 44683553 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 44683553 44683553 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.931 p.G311R 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 tier1 - - 65 0 0.00 24 16 40.00 ZNF350 0 genome.wustl.edu 37 19 52469263 52469263 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52469263 52469263 C T SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known missense c.443 p.G148D 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 tier1 - - 100 0 0.00 67 23 25.56 ZNF420 0 genome.wustl.edu 37 19 37619796 37619796 + Nonsense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 37619796 37619796 A T SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known nonsense c.1903 p.R635* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 tier1 - - 62 0 0.00 53 23 30.26 ZNF429 0 genome.wustl.edu 37 19 21720246 21720246 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 21720246 21720246 G A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1391 p.R464Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 tier1 - - 74 0 0.00 44 33 42.86 ZNF446 0 genome.wustl.edu 37 19 58988844 58988844 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 58988844 58988844 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.259 p.R87C 0.797 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 tier1 - - 99 0 0.00 49 22 30.99 ZNF462 0 genome.wustl.edu 37 9 109690583 109690583 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 109690583 109690583 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4390 p.A1464T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 53 0 0.00 55 12 17.91 ZNF462 0 genome.wustl.edu 37 9 109691364 109691364 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 109691364 109691364 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.5171 p.A1724V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 49 0 0.00 40 24 37.50 ZNF467 0 genome.wustl.edu 37 7 149461880 149461880 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 149461880 149461880 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.1711 p.A571T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 39 0 0.00 25 8 24.24 ZNF470 0 genome.wustl.edu 37 19 57088424 57088424 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57088424 57088424 A - DEL ZNF470 ENST00000330619 human ensembl 74_37 +1 known frame_shift_del c.627 p.T211fs 0.023 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 ZNF470 HGNC ENSG00000197016 tier1 51 0 0.00 42 18 30.00 ZNF473 0 genome.wustl.edu 37 19 50550019 50550019 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 50550019 50550019 T C SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known silent c.2319 p.L773 0.061 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 ZNF473 HGNC ENSG00000142528 tier1 - - 117 0 0.00 72 32 30.77 ZNF548 0 genome.wustl.edu 37 19 57910377 57910377 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57910377 57910377 T C SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.758 p.M253T 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 64 0 0.00 59 20 25.32 ZNF600 0 genome.wustl.edu 37 19 53270729 53270729 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 53270729 53270729 G T SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.280 p.H94N 0.743 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 209 0 0.00 143 59 29.21 ZNF624 0 genome.wustl.edu 37 17 16527692 16527692 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 16527692 16527692 T C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.508 p.K170E 0.754 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 ZNF624 HGNC ENSG00000197566 tier1 - - 84 0 0.00 78 24 23.53 ZNF672 0 genome.wustl.edu 37 1 249142781 249142781 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 249142781 249142781 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.1308 p.L436 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 tier1 - - 25 0 0.00 17 9 34.62 ZNF678 0 genome.wustl.edu 37 1 227842446 227842446 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 227842446 227842446 G A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known nonsense c.660 p.W220* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 tier1 - - 136 0 0.00 114 40 25.97 ZNF71 0 genome.wustl.edu 37 19 57133836 57133836 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57133836 57133836 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1181 p.R394H 0.097 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 tier1 - - 77 0 0.00 64 5 7.25 ZNF827 0 genome.wustl.edu 37 4 146686300 146686300 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 146686300 146686300 A - DEL ZNF827 ENST00000508784 human ensembl 74_37 -1 known frame_shift_del c.3070 p.C1024fs 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 tier1 57 0 0.00 19 10 34.48 ZSCAN29 0 genome.wustl.edu 37 15 43661984 43661984 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 43661984 43661984 C A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.128 p.C43F 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 91 0 0.00 84 6 6.67 ZWINT 0 genome.wustl.edu 37 10 58118162 58118162 + RNA SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 58118162 58118162 T C SNP ZWINT ENST00000460654 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZWINT HGNC ENSG00000122952 tier1 - - 53 0 0.00 37 20 35.09 AMY2B 0 genome.wustl.edu 37 1 104117947 104117947 + Silent SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 104117947 104117947 T A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known silent c.981 p.I327 0.994 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 274 0 0 331 22 6.23229 CELSR2 0 genome.wustl.edu 37 1 109801548 109801548 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 109801548 109801548 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3805 p.V1269I 0.869 smart_EG-like_dom,pfscan_EG-like_dom 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_dom,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 ENSG00000143126 40 0 0 25 8 24.2424 AMPD2 0 genome.wustl.edu 37 1 110168017 110168017 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 110168017 110168017 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.346 p.R116C 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 168 0 0 117 46 28.2209 AMPD2 0 genome.wustl.edu 37 1 110169390 110169390 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 110169390 110169390 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.736 p.R246W 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 156 0 0 130 7 5.10949 CHIAP2 0 genome.wustl.edu 37 1 111824264 111824264 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 111824264 111824264 C T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors CHIAP2 HGNC ENSG00000203878 48 0 0 34 16 32 ADORA3 0 genome.wustl.edu 37 1 112029227 112029227 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 112029227 112029227 G A SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.853 p.R285C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 32 0 0 25 10 28.5714 FAM212B 0 genome.wustl.edu 37 1 112270003 112270003 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 112270003 112270003 C T SNP FAM212B ENST00000357260 human ensembl 74_37 -1 known missense c.481 p.V161I 1.000 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 84 0 0 66 27 29.0323 IGSF3 0 genome.wustl.edu 37 1 117122242 117122242 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 117122242 117122242 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3166 p.V1056M 0.997 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 43 0 0 36 13 26.5306 MIIP 0 genome.wustl.edu 37 1 12081867 12081867 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 12081867 12081867 G A SNP MIIP ENST00000235332 human ensembl 74_37 +1 known silent c.84 p.V28 0.448 NULL NULL - no_errors MIIP HGNC ENSG00000116691 41 0 0 17 13 43.3333 SCNN1D 0 genome.wustl.edu 37 1 1223116 1223116 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 1223116 1223116 G A SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1463 p.G488D 0.393 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 28 0 0 17 3 15 SV2A 0 genome.wustl.edu 37 1 149884987 149884987 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 149884987 149884987 G A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.406 p.R136W 0.993 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 103 1 0.961538 79 34 30.0885 PI4KB 0 genome.wustl.edu 37 1 151280100 151280100 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 151280100 151280100 C T SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1168 p.V390M 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 88 0 0 29 19 39.5833 HRNR 0 genome.wustl.edu 37 1 152190972 152190972 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 152190972 152190972 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.3133 p.G1045S 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 321 0 0 226 53 18.9964 DCST2 0 genome.wustl.edu 37 1 155005625 155005625 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 155005625 155005625 C T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known silent c.384 p.E128 1.000 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 21 0 0 16 4 20 HCN3 0 genome.wustl.edu 37 1 155252416 155252416 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 155252416 155252416 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.493 p.R165C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 91 0 0 59 25 29.7619 BCAN 0 genome.wustl.edu 37 1 156622647 156622647 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 156622647 156622647 C T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.1905 p.S635 0.994 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 113 0 0 60 30 33.3333 AIM2 0 genome.wustl.edu 37 1 159035718 159035718 + Silent SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 159035718 159035718 A C SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known silent c.798 p.G266 0.001 pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 101 0 0 65 19 22.619 USP21 0 genome.wustl.edu 37 1 161132826 161132826 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 161132826 161132826 C A SNP USP21 ENST00000289865 human ensembl 74_37 +1 known silent c.1011 p.P337 0.741 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 147 0 0 96 33 25.5814 EPHA2 0 genome.wustl.edu 37 1 16461628 16461628 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 16461628 16461628 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1485 p.D495 0.080 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 330 1 0.302115 211 63 22.9927 GORAB 0 genome.wustl.edu 37 1 170508683 170508683 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 170508683 170508683 A G SNP GORAB ENST00000367763 human ensembl 74_37 +1 known missense c.469 p.K157E 0.997 NULL pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 57 0 0 43 26 37.6812 SUCO 0 genome.wustl.edu 37 1 172554176 172554176 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 172554176 172554176 T C SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.1973 p.V658A 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 39 0 0 17 6 26.087 PADI2 0 genome.wustl.edu 37 1 17401416 17401416 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 17401416 17401416 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1484 p.S495L 0.474 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 32 0 0 16 6 27.2727 PADI2 0 genome.wustl.edu 37 1 17431554 17431554 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 17431554 17431554 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.95 p.A32V 0.440 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 35 0 0 20 12 37.5 CEP350 0 genome.wustl.edu 37 1 180062780 180062780 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 180062780 180062780 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known nonsense c.7540 p.R2514* 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 54 0 0 37 18 32.7273 DHX9 0 genome.wustl.edu 37 1 182827950 182827950 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 182827950 182827950 G A SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.983 p.G328D 0.995 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 52 0 0 43 13 23.2143 RGL1 0 genome.wustl.edu 37 1 183895409 183895409 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 183895409 183895409 A C SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.2395 p.S799R 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 36 0 0 26 9 25.7143 HMCN1 0 genome.wustl.edu 37 1 186097323 186097323 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 186097323 186097323 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.12804 p.D4268 0.927 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 71 0 0 64 24 27.2727 IGSF21 0 genome.wustl.edu 37 1 18704785 18704785 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 18704785 18704785 G C SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.1369 p.V457L 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 41 0 0 29 15 34.0909 UBR4 0 genome.wustl.edu 37 1 19493636 19493636 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 19493636 19493636 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.3989 p.S1330N 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 80 0 0 49 31 38.75 CFHR4 0 genome.wustl.edu 37 1 196879461 196879461 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 196879461 196879461 G C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.847 p.E283Q 0.008 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 30 0 0 23 5 17.8571 PLA2G2C 0 genome.wustl.edu 37 1 20499363 20499363 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 20499363 20499363 G A SNP PLA2G2C ENST00000247992 human ensembl 74_37 -1 known silent c.210 p.Y70 0.098 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2C HGNC ENSG00000187980 60 0 0 39 18 31.5789 KLHDC8A 0 genome.wustl.edu 37 1 205308508 205308508 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 205308508 205308508 C T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.571 p.A191T 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 30 0 0 22 12 35.2941 DYRK3 0 genome.wustl.edu 37 1 206821042 206821042 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 206821042 206821042 G T SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known nonsense c.499 p.E167* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 161 0 0 87 46 34.5865 DYRK3 0 genome.wustl.edu 37 1 206821148 206821148 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 206821148 206821148 G A SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.605 p.R202Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 167 0 0 91 39 30 PTPN14 0 genome.wustl.edu 37 1 214638008 214638008 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 214638008 214638008 G T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.139 p.L47M 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 43 0 0 47 21 30.8824 LEFTY2 0 genome.wustl.edu 37 1 226127114 226127114 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 226127114 226127114 G A SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known silent c.684 p.A228 0.000 pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 33 0 0 27 9 25 ZNF678 0 genome.wustl.edu 37 1 227842446 227842446 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 227842446 227842446 G A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known nonsense c.660 p.W220* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 124 0 0 105 38 26.5734 PCNXL2 0 genome.wustl.edu 37 1 233388168 233388168 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 233388168 233388168 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2060 p.S687N 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 87 0 0 101 6 5.60748 PCNXL2 0 genome.wustl.edu 37 1 233394561 233394561 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 233394561 233394561 G T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.1047 p.S349 0.482 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 140 0 0 100 42 29.5775 LYST 0 genome.wustl.edu 37 1 235971962 235971962 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 235971962 235971962 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.2156 p.I719T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 35 0 0 15 11 42.3077 ASAP3 0 genome.wustl.edu 37 1 23763504 23763504 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 23763504 23763504 A T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.1376 p.L459H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 39 0 0 25 4 13.7931 RYR2 0 genome.wustl.edu 37 1 237753973 237753973 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 237753973 237753973 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3835 p.P1279S 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_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 240 0 0 157 59 27.3148 ZNF672 0 genome.wustl.edu 37 1 249142781 249142781 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 249142781 249142781 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.1308 p.L436 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 22 0 0 13 7 35 SRRM1 0 genome.wustl.edu 37 1 24996658 24996658 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24996658 24996658 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2288 p.R763Q 0.955 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 206 0 0 142 56 28.2828 SRRM1 0 genome.wustl.edu 37 1 24996760 24996760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24996760 24996760 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2390 p.P797L 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 110 0 0 84 40 32.2581 EVA1B 0 genome.wustl.edu 37 1 36788573 36788573 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 36788573 36788573 G A SNP EVA1B ENST00000270824 human ensembl 74_37 -1 known silent c.66 p.R22 1.000 NULL NULL - no_errors EVA1B HGNC ENSG00000142694 131 0 0 68 29 29.8969 TRIT1 0 genome.wustl.edu 37 1 40313667 40313667 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40313667 40313667 G A SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.806 p.S269L 0.024 pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 70 0 0 47 18 27.6923 RLF 0 genome.wustl.edu 37 1 40701810 40701810 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40701810 40701810 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.1436 p.C479Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 113 0 0 64 27 29.6703 ZFP69 0 genome.wustl.edu 37 1 40961369 40961369 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 40961369 40961369 G A SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known missense c.1219 p.G407R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 96 0 0 49 20 28.9855 CTPS1 0 genome.wustl.edu 37 1 41475868 41475868 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 41475868 41475868 C A SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.1727 p.P576H 1.000 NULL pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 70 0 0 49 24 32.8767 AKR1A1 0 genome.wustl.edu 37 1 46032346 46032346 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46032346 46032346 G A SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known missense c.190 p.V64M 0.975 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 184 0 0 112 42 27.2727 MAST2 0 genome.wustl.edu 37 1 46500777 46500777 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46500777 46500777 G A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.4436 p.G1479D 0.996 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 48 0 0 34 14 29.1667 SPATA6 0 genome.wustl.edu 37 1 48821392 48821392 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 48821392 48821392 G A SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known missense c.1144 p.R382W 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 93 0 0 63 18 22.2222 ZCCHC11 0 genome.wustl.edu 37 1 52896774 52896774 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 52896774 52896774 A C SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.4622 p.V1541G 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 72 0 0 55 28 33.7349 USP1 0 genome.wustl.edu 37 1 62916397 62916397 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 62916397 62916397 T C SNP USP1 ENST00000339950 human ensembl 74_37 +1 known silent c.2103 p.S701 0.998 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 151 0 0 104 49 32.0261 LRRC7 0 genome.wustl.edu 37 1 70446077 70446077 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 70446077 70446077 C G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.613 p.Q205E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 107 0 0 75 16 17.5824 PER3 0 genome.wustl.edu 37 1 7886760 7886760 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 7886760 7886760 A G SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.2154 p.S718 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 36 0 0 30 10 25 BARHL2 0 genome.wustl.edu 37 1 91182241 91182241 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 91182241 91182241 G A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.512 p.P171L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 36 0 0 22 6 21.4286 MTF2 0 genome.wustl.edu 37 1 93581092 93581092 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 93581092 93581092 C A SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known silent c.549 p.P183 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 66 0 0 50 4 7.40741 SEC31B 0 genome.wustl.edu 37 10 102248651 102248651 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 102248651 102248651 C T SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known silent c.3252 p.A1084 0.144 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 111 0 0 90 32 26.2295 NFKB2 0 genome.wustl.edu 37 10 104160788 104160788 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 104160788 104160788 C T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.2053 p.R685C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 31 0 0 22 13 37.1429 PDCD11 0 genome.wustl.edu 37 10 105200312 105200312 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 105200312 105200312 G T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.4414 p.E1472* 0.142 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 38 0 0 42 24 36.3636 GTPBP4 0 genome.wustl.edu 37 10 1055495 1055495 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 1055495 1055495 A G SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known silent c.1218 p.G406 1.000 pfam_NOG_C pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 105 0 0 40 18 31.0345 COL17A1 0 genome.wustl.edu 37 10 105809185 105809185 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 105809185 105809185 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2209 p.G737R 0.889 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 64 0 0 48 13 21.3115 ATRNL1 0 genome.wustl.edu 37 10 117486773 117486773 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 117486773 117486773 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known nonsense c.3811 p.R1271* 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 43 0 0 21 13 38.2353 SLC18A2 0 genome.wustl.edu 37 10 119003614 119003614 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 119003614 119003614 C T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.254 p.S85L 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 81 0 0 49 24 32.8767 FGFR2 0 genome.wustl.edu 37 10 123274810 123274810 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 123274810 123274810 T C SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1111 p.T371A 0.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 108 0 0 77 27 25.9615 KNDC1 0 genome.wustl.edu 37 10 135015020 135015020 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 135015020 135015020 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3011 p.A1004V 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 208 0 0 110 50 31.25 ARMC3 0 genome.wustl.edu 37 10 23287243 23287243 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 23287243 23287243 C A SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.1342 p.L448M 0.924 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 10 0 0 16 5 23.8095 SVILP1 0 genome.wustl.edu 37 10 30986437 30986437 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 30986437 30986437 C T SNP SVILP1 ENST00000435645 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SVILP1 HGNC ENSG00000234814 20 0 0 2 4 66.6667 RET 0 genome.wustl.edu 37 10 43601893 43601893 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 43601893 43601893 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.937 p.R313W 0.795 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 26 0 0 30 9 23.0769 ANXA8L2 0 genome.wustl.edu 37 10 47756087 47756087 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 47756087 47756087 G A SNP ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known missense c.547 p.A183T 1.000 pfam_Annexin_repeat,prints_AnnexinVIII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 253 0 0 176 46 20.7207 CCDC6 0 genome.wustl.edu 37 10 61552696 61552696 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 61552696 61552696 C T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known silent c.1404 p.A468 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 125 0 0 81 27 25 ADAMTS14 0 genome.wustl.edu 37 10 72511302 72511302 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 72511302 72511302 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.2505 p.L835 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 117 0 0 66 29 30.5263 SLC29A3 0 genome.wustl.edu 37 10 73111463 73111463 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 73111463 73111463 C T SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known silent c.528 p.S176 0.071 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 44 0 0 58 4 6.45161 OIT3 0 genome.wustl.edu 37 10 74666423 74666423 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 74666423 74666423 G A SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.614 p.R205H 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 296 0 0 213 84 28.2828 PTEN 0 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 150 0 0 88 42 32.3077 C10orf12 0 genome.wustl.edu 37 10 98743878 98743878 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 98743878 98743878 G A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.2731 p.A911T 0.328 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 95 0 0 68 35 33.9806 SBF2 0 genome.wustl.edu 37 11 10064513 10064513 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 10064513 10064513 C T SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.157 p.G53R 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 70 0 0 45 10 18.1818 MMP27 0 genome.wustl.edu 37 11 102567123 102567123 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 102567123 102567123 T G SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.881 p.E294A 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 83 0 0 61 22 26.506 AMPD3 0 genome.wustl.edu 37 11 10503704 10503704 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 10503704 10503704 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.521 p.P174L 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 158 0 0 93 52 35.8621 DSCAML1 0 genome.wustl.edu 37 11 117647601 117647601 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 117647601 117647601 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.596 p.G199D 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 60 0 0 23 19 45.2381 KMT2A 0 genome.wustl.edu 37 11 118375333 118375333 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 118375333 118375333 C A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.8717 p.P2906H 0.991 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 248 0 0 168 73 30.2905 KIRREL3 0 genome.wustl.edu 37 11 126396433 126396433 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 126396433 126396433 T C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.283 p.S95G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 21 0 0 22 8 26.6667 B3GAT1 0 genome.wustl.edu 37 11 134253718 134253718 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 134253718 134253718 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known silent c.516 p.R172 0.693 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 14 0 0 8 4 33.3333 ABCC8 0 genome.wustl.edu 37 11 17426065 17426065 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 17426065 17426065 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3554 p.A1185V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 109 0 0 50 24 32.4324 NAV2 0 genome.wustl.edu 37 11 20066923 20066923 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20066923 20066923 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.3678 p.N1226 0.475 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 53 0 0 24 15 38.4615 NAV2 0 genome.wustl.edu 37 11 20112450 20112450 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20112450 20112450 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5715 p.M1905I 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 57 0 0 36 15 29.4118 PRMT3 0 genome.wustl.edu 37 11 20424474 20424474 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 20424474 20424474 C T SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known nonsense c.715 p.R239* 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 99 0 0 71 23 24.4681 RAG1 0 genome.wustl.edu 37 11 36595794 36595794 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 36595794 36595794 C T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.940 p.R314W 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 63 0 0 57 16 21.9178 MYBPC3 0 genome.wustl.edu 37 11 47373000 47373000 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 47373000 47373000 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.82 p.V28M 0.624 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 20 0 0 17 6 26.087 NUP160 0 genome.wustl.edu 37 11 47858456 47858456 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 47858456 47858456 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known nonsense c.925 p.R309* 0.998 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 80 0 0 72 15 17.2414 OR51A4 0 genome.wustl.edu 37 11 4968091 4968091 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 4968091 4968091 C T SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.240 p.L80 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 129 0 0 124 19 13.2867 SLC43A3 0 genome.wustl.edu 37 11 57184137 57184137 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 57184137 57184137 G A SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known silent c.678 p.C226 0.860 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 37 0 0 18 10 35.7143 SMTNL1 0 genome.wustl.edu 37 11 57310172 57310172 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 57310172 57310172 G A SNP SMTNL1 ENST00000457912 human ensembl 74_37 +1 known silent c.111 p.A37 0.007 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 43 0 0 23 10 30.303 OR56B1 0 genome.wustl.edu 37 11 5758485 5758485 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 5758485 5758485 C A SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.739 p.L247M 0.485 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 131 0 0 95 34 26.3566 OR5A1 0 genome.wustl.edu 37 11 59211505 59211505 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 59211505 59211505 G T SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known silent c.864 p.L288 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 221 0 0 152 44 22.449 AHNAK 0 genome.wustl.edu 37 11 62301254 62301254 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 62301254 62301254 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.635 p.S212L 0.011 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 95 0 0 51 27 34.6154 TUT1 0 genome.wustl.edu 37 11 62346096 62346096 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 62346096 62346096 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.1211 p.R404H 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 118 0 0 66 18 21.4286 PLCB3 0 genome.wustl.edu 37 11 64022382 64022382 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 64022382 64022382 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 62 0 0 25 12 32.4324 TRIM3 0 genome.wustl.edu 37 11 6470404 6470404 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6470404 6470404 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.2089 p.D697N 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 52 0 0 52 8 13.3333 SCYL1 0 genome.wustl.edu 37 11 65302728 65302728 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 65302728 65302728 G A SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.1261 p.E421K 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 163 0 0 81 31 27.6786 RELA 0 genome.wustl.edu 37 11 65422011 65422011 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 65422011 65422011 C A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.1494 p.E498D 0.989 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 110 0 0 67 16 19.2771 PELI3 0 genome.wustl.edu 37 11 66235714 66235714 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 66235714 66235714 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 81 0 0 68 19 21.8391 DCHS1 0 genome.wustl.edu 37 11 6662504 6662504 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6662504 6662504 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.341 p.R114H 0.992 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 63 0 0 39 20 33.8983 UNC93B1 0 genome.wustl.edu 37 11 67767119 67767119 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 67767119 67767119 C T SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.424 p.A142T 1.000 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 30 0 0 12 5 29.4118 OR2AG2 0 genome.wustl.edu 37 11 6789417 6789417 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6789417 6789417 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.772 p.M258V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 71 0 0 52 22 29.7297 IGHMBP2 0 genome.wustl.edu 37 11 68676073 68676073 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 68676073 68676073 C G SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.521 p.S174C 0.003 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 61 0 0 37 17 31.4815 ARAP1 0 genome.wustl.edu 37 11 72415278 72415278 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 72415278 72415278 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.1911 p.R637 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 63 0 0 32 8 20 KLHL35 0 genome.wustl.edu 37 11 75136619 75136619 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 75136619 75136619 G A SNP KLHL35 ENST00000539798 human ensembl 74_37 -1 known missense c.1193 p.A398V 0.866 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL35 HGNC ENSG00000149243 21 0 0 9 7 43.75 GABARAPL1 0 genome.wustl.edu 37 12 10365771 10365771 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 10365771 10365771 A G SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known missense c.43 p.K15E 1.000 pfam_Atg8_fam pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 10 0 0 13 4 23.5294 NUAK1 0 genome.wustl.edu 37 12 106480594 106480594 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 106480594 106480594 A G SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.431 p.I144T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 76 0 0 70 28 28.5714 BTBD11 0 genome.wustl.edu 37 12 108051422 108051422 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 108051422 108051422 A G SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3242 p.Q1081R 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 84 0 0 60 27 31.0345 RPH3A 0 genome.wustl.edu 37 12 113307812 113307812 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 113307812 113307812 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.764 p.G255V 0.000 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 60 0 0 43 11 20.3704 KDM2B 0 genome.wustl.edu 37 12 121987461 121987461 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 121987461 121987461 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.480 p.Y160 0.380 NULL pfam_Znf_CXXC,pfam_F-box_dom,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 KDM2B HGNC ENSG00000089094 120 0 0 113 9 7.37705 HPD 0 genome.wustl.edu 37 12 122292668 122292668 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 122292668 122292668 G A SNP HPD ENST00000289004 human ensembl 74_37 -1 known missense c.355 p.R119W 0.998 pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 173 1 0.574713 107 59 35.5422 VPS33A 0 genome.wustl.edu 37 12 122745872 122745872 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 122745872 122745872 T C SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known missense c.419 p.Y140C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 114 0 0 84 38 31.1475 OGFOD2 0 genome.wustl.edu 37 12 123462998 123462998 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123462998 123462998 G A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.413 p.R138H 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 89 0 0 53 15 22.0588 GYS2 0 genome.wustl.edu 37 12 21711172 21711172 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 21711172 21711172 G A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.1384 p.R462W 0.989 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 41 0 0 53 17 24.2857 PRICKLE1 0 genome.wustl.edu 37 12 42858682 42858682 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 42858682 42858682 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1154 p.T385I 0.385 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 62 0 0 53 4 7.01754 FAM186B 0 genome.wustl.edu 37 12 49993687 49993687 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 49993687 49993687 G A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.1736 p.A579V 0.541 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 63 0 0 40 18 31.0345 SMARCD1 0 genome.wustl.edu 37 12 50480099 50480099 + Silent SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 50480099 50480099 C G SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known silent c.333 p.V111 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 73 0 0 26 19 42.2222 ACVR1B 0 genome.wustl.edu 37 12 52378996 52378996 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52378996 52378996 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 51 0 0 25 12 32.4324 KRT85 0 genome.wustl.edu 37 12 52761121 52761121 + Silent SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52761121 52761121 A C SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.69 p.A23 0.157 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 60 0 0 32 20 38.4615 KRT82 0 genome.wustl.edu 37 12 52788766 52788766 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52788766 52788766 T G SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known missense c.1535 p.K512T 0.005 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 103 0 0 55 23 29.4872 KRT6C 0 genome.wustl.edu 37 12 52865022 52865022 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 52865022 52865022 T C SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.971 p.N324S 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 166 0 0 144 61 29.7561 ITGA7 0 genome.wustl.edu 37 12 56078905 56078905 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 56078905 56078905 G C SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.3483 p.I1161M 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 68 0 0 29 11 27.5 MMP19 0 genome.wustl.edu 37 12 56234489 56234489 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 56234489 56234489 C T SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known missense c.482 p.R161H 0.795 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 169 0 0 150 9 5.66038 MYO1A 0 genome.wustl.edu 37 12 57432301 57432301 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 57432301 57432301 G T SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1655 p.P552H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 99 0 0 57 30 34.4828 LRP1 0 genome.wustl.edu 37 12 57588181 57588181 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 57588181 57588181 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7963 p.V2655M 0.987 pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 153 0 0 98 40 28.9855 SLC26A10 0 genome.wustl.edu 37 12 58016641 58016641 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 58016641 58016641 T C SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.863 p.L288P 0.996 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 86 0 0 59 30 33.7079 C12orf66 0 genome.wustl.edu 37 12 64588303 64588303 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 64588303 64588303 C T SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known silent c.657 p.A219 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 80 0 0 46 18 28.125 LRRC10 0 genome.wustl.edu 37 12 70004125 70004125 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 70004125 70004125 C T SNP LRRC10 ENST00000361484 human ensembl 74_37 -1 known missense c.494 p.R165H 0.008 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 79 0 0 39 19 32.7586 KCNC2 0 genome.wustl.edu 37 12 75601379 75601379 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 75601379 75601379 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.385 p.V129M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 37 0 0 29 15 34.0909 ATP2B1 0 genome.wustl.edu 37 12 90036054 90036054 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 90036054 90036054 T C SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.287 p.K96R 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 375 0 0 273 115 29.6392 WNK1 0 genome.wustl.edu 37 12 994696 994696 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 994696 994696 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.6220 p.I2074V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 366 0 0 293 130 30.7329 EFNB2 0 genome.wustl.edu 37 13 107147297 107147297 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 107147297 107147297 C T SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.545 p.R182H 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 146 1 0.680272 124 33 21.0191 MYO16 0 genome.wustl.edu 37 13 109779804 109779804 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 109779804 109779804 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.3891 p.P1297 0.942 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 47 0 0 39 9 18.75 ZDHHC20 0 genome.wustl.edu 37 13 21955582 21955582 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 21955582 21955582 C T SNP ZDHHC20 ENST00000400590 human ensembl 74_37 -1 known missense c.1051 p.V351I 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 26 0 0 26 5 16.129 CSNK1A1L 0 genome.wustl.edu 37 13 37679360 37679360 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 37679360 37679360 C T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.34 p.V12I 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 115 0 0 45 85 65.3846 ENOX1 0 genome.wustl.edu 37 13 43986137 43986137 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 43986137 43986137 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.123 p.S41 0.925 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 66 0 0 26 43 62.3188 CCDC122 0 genome.wustl.edu 37 13 44443474 44443474 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 44443474 44443474 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known silent c.39 p.P13 0.001 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 17 0 0 5 7 58.3333 AHNAK2 0 genome.wustl.edu 37 14 105417838 105417838 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 105417838 105417838 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3950 p.A1317V 0.083 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 413 0 0 121 116 48.9451 NYNRIN 0 genome.wustl.edu 37 14 24884689 24884689 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 24884689 24884689 G A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.3734 p.R1245Q 0.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 54 0 0 22 16 42.1053 NIN 0 genome.wustl.edu 37 14 51226698 51226698 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 51226698 51226698 G C SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.2276 p.T759S 0.473 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 135 0 0 65 36 35.6436 TRIM9 0 genome.wustl.edu 37 14 51464842 51464842 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 51464842 51464842 T C SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1517 p.N506S 0.893 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 55 0 0 29 12 29.2683 NID2 0 genome.wustl.edu 37 14 52477634 52477634 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 52477634 52477634 G C SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3682 p.L1228V 0.994 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 109 0 0 50 31 38.2716 SYNE2 0 genome.wustl.edu 37 14 64519522 64519522 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 64519522 64519522 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.8891 p.R2964H 0.002 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 59 0 0 15 16 51.6129 SPTB 0 genome.wustl.edu 37 14 65253771 65253771 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 65253771 65253771 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2912 p.T971M 0.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 63 0 0 24 11 31.4286 SLC8A3 0 genome.wustl.edu 37 14 70634434 70634434 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 70634434 70634434 G T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.706 p.L236I 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 56 0 0 14 15 51.7241 AREL1 0 genome.wustl.edu 37 14 75142935 75142935 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 75142935 75142935 G A SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known silent c.741 p.L247 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 97 0 0 36 30 45.4545 PTPN21 0 genome.wustl.edu 37 14 88945669 88945669 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 88945669 88945669 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known silent c.2106 p.S702 0.002 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 103 0 0 43 35 44.8718 UNC79 0 genome.wustl.edu 37 14 94069633 94069633 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 94069633 94069633 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3623 p.L1208S 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 123 0 0 41 29 41.4286 UNC79 0 genome.wustl.edu 37 14 94088838 94088838 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 94088838 94088838 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.5325 p.S1775 0.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 91 0 0 27 31 53.4483 ADAMTS17 0 genome.wustl.edu 37 15 100636647 100636647 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 100636647 100636647 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2051 p.A684V 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 179 0 0 115 62 35.0282 OR4N4 0 genome.wustl.edu 37 15 22382892 22382892 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 22382892 22382892 C T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.420 p.A140 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 157 0 0 109 28 20.438 OTUD7A 0 genome.wustl.edu 37 15 31776477 31776477 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 31776477 31776477 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1822 p.A608T 0.001 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 17 0 0 10 3 23.0769 AQR 0 genome.wustl.edu 37 15 35152260 35152260 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 35152260 35152260 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.4126 p.T1376A 0.964 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 65 0 0 43 19 30.6452 PLCB2 0 genome.wustl.edu 37 15 40584286 40584286 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40584286 40584286 C A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.2505 p.E835D 0.007 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 95 0 0 101 6 5.60748 DISP2 0 genome.wustl.edu 37 15 40659835 40659835 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40659835 40659835 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1522 p.R508C 1.000 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 108 0 0 83 30 26.5487 CASC5 0 genome.wustl.edu 37 15 40917822 40917822 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 40917822 40917822 C T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.5438 p.T1813M 0.003 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 43 0 0 25 6 19.3548 MAPKBP1 0 genome.wustl.edu 37 15 42116151 42116151 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 42116151 42116151 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.4123 p.V1375I 0.039 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 168 0 0 102 56 35.443 SPTBN5 0 genome.wustl.edu 37 15 42168337 42168337 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 42168337 42168337 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4097 p.R1366H 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 62 0 0 32 15 31.9149 CDAN1 0 genome.wustl.edu 37 15 43017428 43017428 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 43017428 43017428 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.3472 p.L1158 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 76 0 0 65 17 20.7317 ZSCAN29 0 genome.wustl.edu 37 15 43661984 43661984 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 43661984 43661984 C A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.128 p.C43F 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 89 0 0 83 6 6.74157 CYP19A1 0 genome.wustl.edu 37 15 51503059 51503059 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 51503059 51503059 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.1458 p.N486 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 126 0 0 114 30 20.8333 MYO5C 0 genome.wustl.edu 37 15 52504010 52504010 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 52504010 52504010 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.4213 p.R1405C 0.988 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 141 0 0 110 67 37.8531 RORA 0 genome.wustl.edu 37 15 60789759 60789759 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 60789759 60789759 C A SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.1566 p.M522I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 64 0 0 37 15 28.8462 MEGF11 0 genome.wustl.edu 37 15 66416314 66416314 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 66416314 66416314 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.123 p.S41 0.011 pfscan_EMI_domain pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 74 0 0 64 25 28.0899 PML 0 genome.wustl.edu 37 15 74327683 74327683 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 74327683 74327683 C T SNP PML ENST00000569477 human ensembl 74_37 +1 known missense c.1921 p.R641C 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 163 0 0 80 44 35.4839 LINGO1 0 genome.wustl.edu 37 15 77906642 77906642 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 77906642 77906642 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1607 p.P536L 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 106 0 0 56 24 30 ADAMTS7 0 genome.wustl.edu 37 15 79092655 79092655 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 79092655 79092655 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.335 p.R112Q 0.740 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 30 0 0 12 12 50 MRPL46 0 genome.wustl.edu 37 15 89008087 89008087 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 89008087 89008087 G A SNP MRPL46 ENST00000312475 human ensembl 74_37 -1 known nonsense c.436 p.R146* 0.746 NULL pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 HGNC ENSG00000259494 118 0 0 81 47 36.7188 ACAN 0 genome.wustl.edu 37 15 89382100 89382100 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 89382100 89382100 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.277 p.R93C 0.722 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 143 0 0 95 45 32.1429 MESP2 0 genome.wustl.edu 37 15 90320318 90320318 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 90320318 90320318 G A SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known missense c.730 p.D244N 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 41 0 0 25 6 19.3548 SLCO3A1 0 genome.wustl.edu 37 15 92706177 92706177 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 92706177 92706177 A T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1945 p.R649W 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 78 0 0 65 28 30.1075 CACNA1H 0 genome.wustl.edu 37 16 1268525 1268525 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 1268525 1268525 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.5761 p.V1921M 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 10 0 0 4 3 42.8571 NTAN1 0 genome.wustl.edu 37 16 15132044 15132044 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 15132044 15132044 A G SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known silent c.777 p.A259 0.043 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 61 0 0 32 16 33.3333 XYLT1 0 genome.wustl.edu 37 16 17451881 17451881 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 17451881 17451881 G T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.390 p.T130 0.998 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 38 0 0 28 7 20 DNAH3 0 genome.wustl.edu 37 16 21123071 21123071 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 21123071 21123071 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1975 p.V659M 0.996 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 87 0 0 41 23 35.9375 TSC2 0 genome.wustl.edu 37 16 2114386 2114386 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 2114386 2114386 C T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1557 p.C519 1.000 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 150 0 0 80 43 34.9593 SCNN1G 0 genome.wustl.edu 37 16 23197805 23197805 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 23197805 23197805 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.213 p.C71 0.761 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 110 0 0 55 31 36.0465 COG7 0 genome.wustl.edu 37 16 23453967 23453967 + Splice_Site SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 23453967 23453967 C A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known splice_site c.436-1 e4-1 1.000 - - - no_errors COG7 HGNC ENSG00000168434 87 0 0 46 22 32.3529 PRKCB 0 genome.wustl.edu 37 16 24192204 24192204 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 24192204 24192204 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.1488 p.V496 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 88 0 0 68 30 30.6122 GSG1L 0 genome.wustl.edu 37 16 27840204 27840204 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 27840204 27840204 T C SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.736 p.I246V 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 80 0 0 47 19 28.7879 PRSS22 0 genome.wustl.edu 37 16 2903155 2903155 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 2903155 2903155 G A SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known missense c.893 p.A298V 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 57 0 0 31 13 29.5455 PRRT2 0 genome.wustl.edu 37 16 29825015 29825015 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 29825015 29825015 G C SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.640 p.A214P 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 28 0 0 21 3 12.5 DOC2A 0 genome.wustl.edu 37 16 30018552 30018552 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 30018552 30018552 C T SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.596 p.R199H 1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 128 0 0 71 33 31.7308 ENSG00000239791 0 genome.wustl.edu 37 16 30583678 30583678 + RNA SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 30583678 30583678 C A SNP ENSG00000239791 ENST00000486926 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000239791 17 0 0 9 8 47.0588 NLRC3 0 genome.wustl.edu 37 16 3591814 3591814 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 3591814 3591814 G A SNP NLRC3 ENST00000419350 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRC3 HGNC ENSG00000167984 12 0 0 27 8 22.8571 AXIN1 0 genome.wustl.edu 37 16 396788 396788 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 396788 396788 G T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.238 p.P80T 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 38 0 0 18 9 33.3333 C16orf71 0 genome.wustl.edu 37 16 4790590 4790590 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 4790590 4790590 C T SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.713 p.A238V 0.000 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 72 0 0 50 14 21.875 MT1G 0 genome.wustl.edu 37 16 56700800 56700800 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 56700800 56700800 G A SNP MT1G ENST00000379811 human ensembl 74_37 -1 known silent c.180 p.C60 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1G HGNC ENSG00000125144 123 0 0 74 41 35.6522 CDH11 0 genome.wustl.edu 37 16 65016020 65016020 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 65016020 65016020 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1184 p.N395S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 111 0 0 36 29 44.6154 HYDIN 0 genome.wustl.edu 37 16 70897000 70897000 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 70897000 70897000 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11557 p.P3853S 0.147 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 49 0 0 24 15 38.4615 ZNF19 0 genome.wustl.edu 37 16 71510004 71510004 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 71510004 71510004 C A SNP ZNF19 ENST00000288177 human ensembl 74_37 -1 known missense c.446 p.G149V 0.351 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 ZNF19 HGNC ENSG00000157429 40 0 0 22 14 38.8889 MLYCD 0 genome.wustl.edu 37 16 83949020 83949020 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 83949020 83949020 G A SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.1408 p.G470S 0.386 NULL pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 63 0 0 27 20 42.5532 GSE1 0 genome.wustl.edu 37 16 85690894 85690894 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 85690894 85690894 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.1324 p.D442N 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 183 0 0 51 33 39.2857 DNAH9 0 genome.wustl.edu 37 17 11711188 11711188 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 11711188 11711188 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8560 p.G2854S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 66 0 0 29 13 30.9524 HS3ST3A1 0 genome.wustl.edu 37 17 13400018 13400018 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 13400018 13400018 G A SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known silent c.717 p.I239 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 160 0 0 90 20 18.1818 ZNF624 0 genome.wustl.edu 37 17 16527692 16527692 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 16527692 16527692 T C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.508 p.K170E 0.754 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 ZNF624 HGNC ENSG00000197566 75 0 0 71 22 23.6559 PLD6 0 genome.wustl.edu 37 17 17106229 17106229 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 17106229 17106229 C T SNP PLD6 ENST00000321560 human ensembl 74_37 -1 known missense c.611 p.R204H 0.956 NULL smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD6 HGNC ENSG00000179598 123 1 0.806452 101 36 26.2774 TBC1D28 0 genome.wustl.edu 37 17 18539885 18539885 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 18539885 18539885 C T SNP TBC1D28 ENST00000345096 human ensembl 74_37 -1 known missense c.523 p.V175M 0.001 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D28 HGNC ENSG00000189375 180 0 0 146 49 25.1282 FBXW10 0 genome.wustl.edu 37 17 18654315 18654315 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 18654315 18654315 T C SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.1158 p.D386 0.221 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 211 0 0 147 42 22.2222 DPH1 0 genome.wustl.edu 37 17 1933450 1933450 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 1933450 1933450 T C SNP DPH1 ENST00000263083 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 16 0 0 4 4 50 KCNJ12 0 genome.wustl.edu 37 17 21319012 21319012 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 21319012 21319012 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.358 p.R120C 0.998 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 77 0 0 60 6 9.09091 C17orf97 0 genome.wustl.edu 37 17 263351 263351 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 263351 263351 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known silent c.717 p.P239 0.005 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 66 0 0 27 21 43.75 RPL23A 0 genome.wustl.edu 37 17 27049750 27049750 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 27049750 27049750 C A SNP RPL23A ENST00000422514 human ensembl 74_37 +1 known missense c.219 p.H73Q 1.000 superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_L23/L25_N,pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23 - no_errors RPL23A HGNC ENSG00000198242 87 0 0 64 19 22.8916 CPD 0 genome.wustl.edu 37 17 28788227 28788227 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 28788227 28788227 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.3528 p.P1176 0.553 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 56 0 0 44 17 27.8689 SYNRG 0 genome.wustl.edu 37 17 35937523 35937523 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 35937523 35937523 C G SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.778 p.E260Q 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 252 0 0 192 46 19.3277 GPR179 0 genome.wustl.edu 37 17 36485655 36485655 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 36485655 36485655 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.3797 p.P1266L 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 101 0 0 62 30 32.6087 LASP1 0 genome.wustl.edu 37 17 37075003 37075003 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 37075003 37075003 T C SNP LASP1 ENST00000318008 human ensembl 74_37 +1 known missense c.758 p.L253P 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 135 0 0 98 46 31.9444 KRT40 0 genome.wustl.edu 37 17 39137374 39137374 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 39137374 39137374 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.717 p.G239 0.829 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 86 0 0 80 29 26.6055 KRT16 0 genome.wustl.edu 37 17 39766239 39766239 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 39766239 39766239 G T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.1370 p.P457H 0.992 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 43 0 0 28 13 31.7073 G6PC 0 genome.wustl.edu 37 17 41056041 41056041 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 41056041 41056041 C A SNP G6PC ENST00000253801 human ensembl 74_37 +1 known silent c.324 p.T108 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 141 0 0 97 42 30.2158 HDAC5 0 genome.wustl.edu 37 17 42168737 42168737 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 42168737 42168737 C T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.1291 p.V431M 0.996 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 44 0 0 37 11 22.9167 ITGA2B 0 genome.wustl.edu 37 17 42457070 42457070 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 42457070 42457070 T C SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1865 p.H622R 0.623 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 256 0 0 146 73 33.3333 SP2 0 genome.wustl.edu 37 17 46002386 46002386 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 46002386 46002386 G A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.1474 p.G492R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 72 0 0 75 28 27.1845 KAT7 0 genome.wustl.edu 37 17 47904071 47904071 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 47904071 47904071 G A SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.1644 p.T548 0.618 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 180 0 0 120 43 26.3804 DLX3 0 genome.wustl.edu 37 17 48072280 48072280 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48072280 48072280 T C SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.83 p.D28G 1.000 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 102 0 0 70 22 23.913 ITGA3 0 genome.wustl.edu 37 17 48151625 48151625 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48151625 48151625 G T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.1363 p.D455Y 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 121 0 0 74 35 32.1101 COL1A1 0 genome.wustl.edu 37 17 48273560 48273560 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48273560 48273560 C A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.958 p.G320C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 67 0 0 40 8 16.6667 XYLT2 0 genome.wustl.edu 37 17 48432272 48432272 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48432272 48432272 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.862 p.R288W 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 102 0 0 96 31 24.4094 CAMTA2 0 genome.wustl.edu 37 17 4877712 4877712 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 4877712 4877712 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2053 p.P685S 0.971 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 105 0 0 47 16 25.3968 ACE 0 genome.wustl.edu 37 17 61559975 61559975 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 61559975 61559975 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.1267 p.V423M 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 189 0 0 119 47 28.3133 FTSJ3 0 genome.wustl.edu 37 17 61898450 61898450 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 61898450 61898450 G A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known nonsense c.1912 p.R638* 0.920 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 104 0 0 47 38 44.7059 LRRC37A3 0 genome.wustl.edu 37 17 62892245 62892245 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 62892245 62892245 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.1131 p.P377 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 239 0 0 186 109 36.9492 KIAA0753 0 genome.wustl.edu 37 17 6515341 6515341 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 6515341 6515341 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known silent c.1443 p.D481 0.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 201 0 0 147 60 28.9855 FAM20A 0 genome.wustl.edu 37 17 66550919 66550919 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 66550919 66550919 C A SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known missense c.639 p.Q213H 1.000 NULL pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 43 0 0 25 12 32.4324 COG1 0 genome.wustl.edu 37 17 71202892 71202892 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 71202892 71202892 C T SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.2665 p.R889W 0.262 NULL NULL - no_errors COG1 HGNC ENSG00000166685 53 0 0 30 15 33.3333 SDK2 0 genome.wustl.edu 37 17 71420152 71420152 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 71420152 71420152 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.1663 p.H555Y 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 27 0 0 12 8 40 RHBDF2 0 genome.wustl.edu 37 17 74469919 74469919 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 74469919 74469919 A G SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known splice_site c.1725+2 e12+2 1.000 - - - no_errors RHBDF2 HGNC ENSG00000129667 62 0 0 38 15 28.3019 RHBDF2 0 genome.wustl.edu 37 17 74475824 74475824 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 74475824 74475824 C T SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known missense c.350 p.S117N 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 51 0 0 31 10 24.3902 TP53 0 genome.wustl.edu 37 17 7577085 7577085 + Nonsense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7577085 7577085 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.853 p.E285* 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 56 0 0 45 13 22.4138 TP53 0 genome.wustl.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7578475 7578475 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.455 p.P152L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 87 0 0 62 26 29.5455 WRAP53 0 genome.wustl.edu 37 17 7605866 7605866 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7605866 7605866 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.1160 p.R387H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 26 0 0 17 4 19.0476 TMC8 0 genome.wustl.edu 37 17 76134468 76134468 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 76134468 76134468 C A SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known silent c.1572 p.P524 0.095 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 135 0 0 95 10 9.52381 C1QTNF1 0 genome.wustl.edu 37 17 77042743 77042743 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 77042743 77042743 G A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.292 p.A98T 0.001 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 129 1 0.769231 101 23 18.5484 CCDC40 0 genome.wustl.edu 37 17 78069165 78069165 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 78069165 78069165 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.871 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 103 0 0 68 29 29.8969 RNF213 0 genome.wustl.edu 37 17 78261820 78261820 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 78261820 78261820 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.468 p.T156 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 25 0 0 6 4 40 SPIRE1 0 genome.wustl.edu 37 18 12463380 12463380 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 12463380 12463380 C T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known silent c.1608 p.L536 0.998 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 81 0 0 57 26 31.3253 TCEB3B 0 genome.wustl.edu 37 18 44559883 44559883 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 44559883 44559883 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1753 p.R585W 0.924 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 87 0 0 37 20 35.0877 ACAA2 0 genome.wustl.edu 37 18 47317840 47317840 + Missense_Mutation SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 47317840 47317840 C G SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.883 p.G295R 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 95 0 0 31 27 46.5517 MBD1 0 genome.wustl.edu 37 18 47799244 47799244 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 47799244 47799244 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1819 p.A607T 0.028 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 137 0 0 43 25 36.7647 ZNF532 0 genome.wustl.edu 37 18 56586442 56586442 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 56586442 56586442 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.923 p.P308L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 150 0 0 54 47 46.5347 CDH19 0 genome.wustl.edu 37 18 64176381 64176381 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 64176381 64176381 A C SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1679 p.L560R 0.343 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 95 0 0 55 28 33.7349 ATP9B 0 genome.wustl.edu 37 18 77097441 77097441 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 77097441 77097441 G T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2275 p.G759W 0.999 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 92 0 0 53 3 5.35714 ABCA7 0 genome.wustl.edu 37 19 1052095 1052095 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 1052095 1052095 G T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3117 p.K1039N 0.720 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 55 0 0 16 9 36 PCSK4 0 genome.wustl.edu 37 19 1487275 1487275 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 1487275 1487275 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known nonsense c.631 p.R211* 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 38 0 0 16 8 33.3333 CASP14 0 genome.wustl.edu 37 19 15166249 15166249 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 15166249 15166249 G A SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.529 p.A177T 0.336 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 95 0 0 28 23 45.098 NOTCH3 0 genome.wustl.edu 37 19 15281201 15281201 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 15281201 15281201 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.5055 p.D1685 0.079 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 96 0 0 49 22 30.9859 EPS15L1 0 genome.wustl.edu 37 19 16515514 16515514 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 16515514 16515514 A T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.1313 p.L438H 0.900 superfamily_Prefoldin superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 64 0 0 28 11 28.2051 SUGP2 0 genome.wustl.edu 37 19 19115267 19115267 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 19115267 19115267 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2639 p.P880L 0.237 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 82 0 0 26 15 36.5854 ZNF429 0 genome.wustl.edu 37 19 21720246 21720246 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 21720246 21720246 G A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1391 p.R464Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 68 0 0 40 30 42.8571 C19orf35 0 genome.wustl.edu 37 19 2278643 2278643 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 2278643 2278643 G A SNP C19orf35 ENST00000342063 human ensembl 74_37 -1 known silent c.552 p.D184 0.359 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 65 0 0 22 11 33.3333 ZNF536 0 genome.wustl.edu 37 19 31025845 31025845 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 31025845 31025845 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.2262 p.P754 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 174 0 0 105 44 29.5302 WDR88 0 genome.wustl.edu 37 19 33623132 33623132 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 33623132 33623132 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.57 p.P19 0.023 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 70 0 0 42 22 34.375 CHST8 0 genome.wustl.edu 37 19 34263963 34263963 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 34263963 34263963 T C SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1270 p.Y424H 1.000 NULL pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 52 0 0 22 14 38.8889 LSM14A 0 genome.wustl.edu 37 19 34710756 34710756 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 34710756 34710756 T C SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known silent c.1110 p.F370 0.973 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 33 0 0 20 6 23.0769 KMT2B 0 genome.wustl.edu 37 19 36212538 36212538 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36212538 36212538 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.2289 p.P763 0.003 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 43 0 0 38 8 17.3913 WDR62 0 genome.wustl.edu 37 19 36583594 36583594 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36583594 36583594 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known silent c.2214 p.C738 0.317 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 171 0 0 94 35 27.1318 ZNF420 0 genome.wustl.edu 37 19 37619796 37619796 + Nonsense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 37619796 37619796 A T SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known nonsense c.1903 p.R635* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 58 0 0 49 20 28.9855 ZFP30 0 genome.wustl.edu 37 19 38127190 38127190 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 38127190 38127190 A G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.252 p.Y84 0.038 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 ZFP30 HGNC ENSG00000120784 24 0 0 11 8 42.1053 RYR1 0 genome.wustl.edu 37 19 38976509 38976509 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 38976509 38976509 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5214 p.T1738 0.000 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 156 0 0 83 43 34.127 FBL 0 genome.wustl.edu 37 19 40328441 40328441 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 40328441 40328441 G A SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.592 p.R198C 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 81 0 0 64 36 36 GRIK5 0 genome.wustl.edu 37 19 42525483 42525483 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42525483 42525483 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1841 p.A614V 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,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 45 0 0 26 8 23.5294 POU2F2 0 genome.wustl.edu 37 19 42603720 42603720 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42603720 42603720 C A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.460 p.A154S 1.000 prints_TF_octamer pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 80 0 0 41 21 33.871 MEGF8 0 genome.wustl.edu 37 19 42863328 42863328 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 42863328 42863328 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.5422 p.E1808K 0.998 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 25 0 0 17 6 26.087 ZNF576 0 genome.wustl.edu 37 19 44103202 44103202 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 44103202 44103202 C T SNP ZNF576 ENST00000336564 human ensembl 74_37 +1 known missense c.305 p.P102L 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF576 HGNC ENSG00000124444 159 0 0 97 35 26.5152 ZNF112 0 genome.wustl.edu 37 19 44832040 44832040 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 44832040 44832040 C T SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.2339 p.R780H 0.011 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF112 HGNC ENSG00000062370 126 0 0 122 51 29.4798 APOE 0 genome.wustl.edu 37 19 45412370 45412370 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 45412370 45412370 G C SNP APOE ENST00000252486 human ensembl 74_37 +1 known missense c.817 p.E273Q 0.246 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOE HGNC ENSG00000130203 19 0 0 11 3 21.4286 RELB 0 genome.wustl.edu 37 19 45525396 45525396 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 45525396 45525396 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.590 p.S197N 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 80 0 0 43 19 30.6452 ZNF296 0 genome.wustl.edu 37 19 45575602 45575602 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 45575602 45575602 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.685 p.R229W 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 159 1 0.625 98 39 28.4672 FBXO46 0 genome.wustl.edu 37 19 46215604 46215604 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 46215604 46215604 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1150 p.G384S 0.972 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 132 0 0 89 6 6.31579 GRIN2D 0 genome.wustl.edu 37 19 48919377 48919377 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 48919377 48919377 G A SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1700 p.R567H 0.887 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 88 0 0 50 14 21.875 RPL18 0 genome.wustl.edu 37 19 49120043 49120043 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49120043 49120043 C T SNP RPL18 ENST00000549370 human ensembl 74_37 -1 known missense c.229 p.G77S 0.264 NULL NULL - no_errors RPL18 HGNC ENSG00000063177 161 0 0 96 40 29.4118 SPHK2 0 genome.wustl.edu 37 19 49129386 49129386 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49129386 49129386 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.464 p.P155L 0.545 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 80 0 0 34 19 35.8491 FUT1 0 genome.wustl.edu 37 19 49253754 49253754 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49253754 49253754 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.785 p.S262N 1.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 195 0 0 102 59 36.646 BCAT2 0 genome.wustl.edu 37 19 49303320 49303320 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49303320 49303320 C A SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.449 p.R150L 0.877 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 75 0 0 59 22 27.1605 RUVBL2 0 genome.wustl.edu 37 19 49513280 49513280 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49513280 49513280 G A SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.620 p.R207H 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 82 0 0 46 21 31.3433 AP2A1 0 genome.wustl.edu 37 19 50285894 50285894 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 50285894 50285894 G C SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.386 p.C129S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 33 0 0 19 8 29.6296 ZNF473 0 genome.wustl.edu 37 19 50550019 50550019 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 50550019 50550019 T C SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known silent c.2319 p.L773 0.061 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 ZNF473 HGNC ENSG00000142528 103 0 0 65 30 31.5789 LIM2 0 genome.wustl.edu 37 19 51890655 51890655 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 51890655 51890655 C T SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.43 p.G15R 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 87 0 0 63 30 32.2581 HAS1 0 genome.wustl.edu 37 19 52216917 52216917 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52216917 52216917 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.1521 p.Y507 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 19 0 0 7 6 46.1538 HAS1 0 genome.wustl.edu 37 19 52222464 52222464 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52222464 52222464 C T SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.718 p.V240M 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 56 0 0 28 12 30 ZNF350 0 genome.wustl.edu 37 19 52469263 52469263 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52469263 52469263 C T SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known missense c.443 p.G148D 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 98 0 0 64 22 25.5814 NLRP12 0 genome.wustl.edu 37 19 54312977 54312977 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 54312977 54312977 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1936 p.E646K 0.976 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 58 0 0 54 4 6.89655 LILRP2 0 genome.wustl.edu 37 19 55221556 55221556 + RNA SNP C C G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 55221556 55221556 C G SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LILRP2 HGNC ENSG00000170858 50 0 0 46 16 25.8065 ISOC2 0 genome.wustl.edu 37 19 55966445 55966445 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 55966445 55966445 G A SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 66 0 0 39 15 27.7778 ZNF71 0 genome.wustl.edu 37 19 57133836 57133836 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57133836 57133836 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1181 p.R394H 0.097 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 76 0 0 62 5 7.46269 TRAPPC2P1 0 genome.wustl.edu 37 19 57876260 57876260 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57876260 57876260 T C SNP TRAPPC2P1 ENST00000543226 human ensembl 74_37 +1 putative missense c.59 p.M20T 1.000 pfam_Sedlin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 21 0 0 20 12 37.5 ZNF548 0 genome.wustl.edu 37 19 57910377 57910377 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57910377 57910377 T C SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.758 p.M253T 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 62 0 0 56 20 26.3158 ZNF446 0 genome.wustl.edu 37 19 58988844 58988844 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 58988844 58988844 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.259 p.R87C 0.797 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 95 0 0 47 21 30.8824 PALM 0 genome.wustl.edu 37 19 746586 746586 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 746586 746586 C T SNP PALM ENST00000338448 human ensembl 74_37 +1 known silent c.936 p.A312 0.003 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 65 0 0 13 15 53.5714 OR2Z1 0 genome.wustl.edu 37 19 8842179 8842179 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 8842179 8842179 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.789 p.C263 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 102 0 0 34 36 51.4286 MUC16 0 genome.wustl.edu 37 19 9090101 9090101 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 9090101 9090101 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.1714 p.L572 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 55 0 0 25 14 35.8974 NPAS2 0 genome.wustl.edu 37 2 101565928 101565928 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 101565928 101565928 G A SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.779 p.R260H 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 31 0 0 37 3 7.5 NPAS2 0 genome.wustl.edu 37 2 101594242 101594242 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 101594242 101594242 C T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.1658 p.T553M 0.396 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 80 0 0 58 23 28.3951 ATP6V1C2 0 genome.wustl.edu 37 2 10904508 10904508 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 10904508 10904508 C A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.335 p.P112H 0.976 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 68 0 0 64 27 29.6703 BCL2L11 0 genome.wustl.edu 37 2 111907683 111907683 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 111907683 111907683 C T SNP BCL2L11 ENST00000393256 human ensembl 74_37 +1 known missense c.457 p.R153W 1.000 pfam_Bcl-x_interacting_BH3_dom,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 45 0 0 33 9 21.4286 CCDC93 0 genome.wustl.edu 37 2 118743575 118743575 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 118743575 118743575 C T SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.590 p.R197Q 0.989 pfam_DUF2037 pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 116 0 0 80 35 30.4348 THSD7B 0 genome.wustl.edu 37 2 138169326 138169326 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 138169326 138169326 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2843 p.R948Q 0.809 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 115 0 0 81 32 28.3186 ACVR1 0 genome.wustl.edu 37 2 158636922 158636922 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 158636922 158636922 G A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known silent c.258 p.S86 0.947 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 112 0 0 61 35 36.4583 SLC4A10 0 genome.wustl.edu 37 2 162820693 162820693 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 162820693 162820693 G T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.2911 p.D971Y 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 19 0 0 10 10 50 KCNH7 0 genome.wustl.edu 37 2 163374664 163374664 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 163374664 163374664 T A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.468 p.K156N 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 48 0 0 42 15 26.3158 ITGA6 0 genome.wustl.edu 37 2 173333883 173333883 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 173333883 173333883 C T SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.418 p.H140Y 0.956 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 106 0 0 90 53 37.0629 GPR155 0 genome.wustl.edu 37 2 175337871 175337871 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 175337871 175337871 C T SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known missense c.682 p.A228T 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 41 0 0 42 17 28.8136 HOXD12 0 genome.wustl.edu 37 2 176965452 176965452 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 176965452 176965452 C T SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known silent c.777 p.R259 0.760 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 45 0 0 25 10 28.5714 TTN 0 genome.wustl.edu 37 2 179411328 179411328 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179411328 179411328 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.87123 p.Y29041 0.338 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 37 0 0 27 8 22.8571 TTN 0 genome.wustl.edu 37 2 179414981 179414981 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179414981 179414981 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.83880 p.F27960 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 55 18 24.6575 TTN 0 genome.wustl.edu 37 2 179641889 179641889 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 179641889 179641889 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4801 p.Y1601H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 134 0 0 96 34 26.1538 MYT1L 0 genome.wustl.edu 37 2 1926404 1926404 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 1926404 1926404 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1137 p.M379I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 44 0 0 37 7 15.9091 GTF3C3 0 genome.wustl.edu 37 2 197654051 197654051 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 197654051 197654051 C A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.770 p.R257L 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 38 0 0 30 14 31.8182 PLCL1 0 genome.wustl.edu 37 2 198950817 198950817 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 198950817 198950817 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2576 p.R859H 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 61 0 0 53 18 25.3521 MPP4 0 genome.wustl.edu 37 2 202547563 202547563 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 202547563 202547563 G A SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known silent c.651 p.I217 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 100 0 0 79 25 24.0385 PIKFYVE 0 genome.wustl.edu 37 2 209198209 209198209 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 209198209 209198209 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.4134 p.A1378 0.878 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 49 0 0 36 11 23.4043 PTH2R 0 genome.wustl.edu 37 2 209315475 209315475 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 209315475 209315475 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known silent c.855 p.G285 0.978 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 117 0 0 103 30 22.5564 C2orf43 0 genome.wustl.edu 37 2 20939809 20939809 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 20939809 20939809 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known silent c.625 p.L209 0.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 134 1 0.740741 120 27 18.3673 IKZF2 0 genome.wustl.edu 37 2 213921701 213921701 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 213921701 213921701 T A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.262 p.S88C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 85 0 0 73 28 27.7228 GPBAR1 0 genome.wustl.edu 37 2 219128008 219128008 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 219128008 219128008 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known silent c.561 p.R187 0.028 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 54 0 0 35 19 35.1852 FAM134A 0 genome.wustl.edu 37 2 220045847 220045847 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 220045847 220045847 G A SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.704 p.R235H 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 176 0 0 104 41 28.2759 OBSL1 0 genome.wustl.edu 37 2 220421447 220421447 + Splice_Site SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 220421447 220421447 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known splice_site c.4067-2 e13-2 0.770 - - - no_errors OBSL1 HGNC ENSG00000124006 23 0 0 12 7 36.8421 SP100 0 genome.wustl.edu 37 2 231281034 231281034 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 231281034 231281034 T C SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.23 p.L8P 0.007 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 29 0 0 21 7 25 SP100 0 genome.wustl.edu 37 2 231406715 231406715 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 231406715 231406715 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.2512 p.R838C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 60 0 0 45 26 36.6197 NEU2 0 genome.wustl.edu 37 2 233899616 233899616 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 233899616 233899616 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.992 p.S331N 0.974 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 195 0 0 120 58 32.5843 HJURP 0 genome.wustl.edu 37 2 234750582 234750582 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 234750582 234750582 T C SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.844 p.I282V 0.003 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 125 0 0 70 38 35.1852 HDLBP 0 genome.wustl.edu 37 2 242170211 242170211 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 242170211 242170211 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3437 p.R1146H 0.951 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 47 0 0 31 10 24.3902 GPR113 0 genome.wustl.edu 37 2 26534086 26534086 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 26534086 26534086 C T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.1913 p.R638Q 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 22 0 0 11 4 26.6667 KCNK3 0 genome.wustl.edu 37 2 26950760 26950760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 26950760 26950760 C T SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.509 p.T170M 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 79 0 0 69 22 24.1758 TMEM214 0 genome.wustl.edu 37 2 27263029 27263029 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27263029 27263029 C T SNP TMEM214 ENST00000238788 human ensembl 74_37 +1 known missense c.1754 p.A585V 0.952 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 79 0 0 54 19 26.0274 GTF3C2 0 genome.wustl.edu 37 2 27565052 27565052 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27565052 27565052 C T SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known silent c.618 p.L206 0.987 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 63 0 0 46 16 25.8065 C2orf16 0 genome.wustl.edu 37 2 27803854 27803854 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27803854 27803854 G T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4415 p.G1472V 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 187 0 0 183 17 8.5 MRPL33 0 genome.wustl.edu 37 2 27997345 27997345 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 27997345 27997345 C A SNP MRPL33 ENST00000296102 human ensembl 74_37 +1 known silent c.96 p.T32 0.981 pfam_Ribosomal_L33,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L33 pfam_Ribosomal_L33,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L33 - no_errors MRPL33 HGNC ENSG00000243147 157 0 0 114 49 30.0613 GALNT14 0 genome.wustl.edu 37 2 31178823 31178823 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 31178823 31178823 T C SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.487 p.I163V 0.997 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 196 0 0 113 49 30.2469 HEATR5B 0 genome.wustl.edu 37 2 37293013 37293013 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 37293013 37293013 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.1218 p.G406 0.018 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 32 0 0 31 10 24.3902 PKDCC 0 genome.wustl.edu 37 2 42281252 42281252 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 42281252 42281252 G A SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.839 p.R280H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 61 0 0 32 10 23.8095 DYNC2LI1 0 genome.wustl.edu 37 2 44021651 44021651 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 44021651 44021651 A G SNP DYNC2LI1 ENST00000605786 human ensembl 74_37 +1 known missense c.376 p.T126A 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC2LI1 HGNC ENSG00000138036 65 0 0 52 17 24.6377 NRXN1 0 genome.wustl.edu 37 2 51255231 51255231 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 51255231 51255231 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.181 p.R61C 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 15 0 0 17 4 19.0476 PSME4 0 genome.wustl.edu 37 2 54125109 54125109 + Silent SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 54125109 54125109 A T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.3504 p.I1168 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 143 0 0 112 49 30.4348 OTX1 0 genome.wustl.edu 37 2 63283098 63283098 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 63283098 63283098 C T SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.712 p.P238S 0.994 pfam_Otx_TF_C pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 135 0 0 77 43 35.8333 SLC1A4 0 genome.wustl.edu 37 2 65217262 65217262 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 65217262 65217262 C A SNP SLC1A4 ENST00000234256 human ensembl 74_37 +1 known missense c.485 p.P162H 0.281 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 22 0 0 13 4 23.5294 DYSF 0 genome.wustl.edu 37 2 71871159 71871159 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 71871159 71871159 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4568 p.G1523D 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 16 0 0 13 4 23.5294 ALMS1 0 genome.wustl.edu 37 2 73676814 73676814 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 73676814 73676814 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3157 p.E1053K 0.028 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 165 0 0 132 54 29.0323 USP39 0 genome.wustl.edu 37 2 85857947 85857947 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 85857947 85857947 G A SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.827 p.R276H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 129 0 0 107 38 26.2069 DUSP2 0 genome.wustl.edu 37 2 96809601 96809601 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 96809601 96809601 C T SNP DUSP2 ENST00000288943 human ensembl 74_37 -1 known silent c.906 p.G302 0.997 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP2 HGNC ENSG00000158050 57 0 0 38 22 36.6667 SNRNP200 0 genome.wustl.edu 37 2 96953611 96953611 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 96953611 96953611 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.3355 p.D1119N 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 80 0 0 64 22 25.5814 ZAP70 0 genome.wustl.edu 37 2 98355873 98355873 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 98355873 98355873 A C SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1772 p.Q591P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 100 0 0 70 21 23.0769 VWA3B 0 genome.wustl.edu 37 2 98809407 98809407 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 98809407 98809407 C T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1513 p.H505Y 0.001 smart_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 87 0 0 69 21 23.3333 EIF5B 0 genome.wustl.edu 37 2 99977757 99977757 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 99977757 99977757 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.393 p.V131 0.040 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 105 0 0 76 32 29.6296 GZF1 0 genome.wustl.edu 37 20 23345525 23345525 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 23345525 23345525 A G SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.505 p.T169A 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 78 0 0 46 23 33.3333 ACSS1 0 genome.wustl.edu 37 20 25011398 25011398 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 25011398 25011398 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.628 p.D210N 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 87 0 0 63 31 32.9787 VPS16 0 genome.wustl.edu 37 20 2840721 2840721 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 2840721 2840721 G A SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.164 p.R55Q 0.882 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 78 0 0 24 14 36.8421 BCL2L1 0 genome.wustl.edu 37 20 30253768 30253768 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 30253768 30253768 A T SNP BCL2L1 ENST00000307677 human ensembl 74_37 -1 known missense c.686 p.L229H 0.995 tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Blc2_fam,tigrfam_Bcl2/BclX - no_errors BCL2L1 HGNC ENSG00000171552 83 0 0 42 27 39.1304 KIF3B 0 genome.wustl.edu 37 20 30898021 30898021 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 30898021 30898021 C A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known silent c.441 p.I147 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 72 0 0 36 10 21.7391 CEP250 0 genome.wustl.edu 37 20 34067191 34067191 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 34067191 34067191 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.2230 p.R744W 0.998 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 245 0 0 146 54 27 DLGAP4 0 genome.wustl.edu 37 20 35064720 35064720 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 35064720 35064720 A T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1208 p.Q403L 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 31 0 0 28 14 33.3333 ADAM33 0 genome.wustl.edu 37 20 3650014 3650014 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 3650014 3650014 G T SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.2336 p.P779H 0.000 NULL 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 ADAM33 HGNC ENSG00000149451 30 0 0 13 6 31.5789 ACTR5 0 genome.wustl.edu 37 20 37400378 37400378 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 37400378 37400378 G C SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1743 p.K581N 1.000 NULL pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 48 0 0 30 8 21.0526 SLC12A5 0 genome.wustl.edu 37 20 44680472 44680472 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 44680472 44680472 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2409 p.R803 0.974 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 113 0 0 96 33 25.5814 SPATA2 0 genome.wustl.edu 37 20 48524790 48524790 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 48524790 48524790 A T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.238 p.S80T 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 135 0 0 75 48 39.0244 SALL4 0 genome.wustl.edu 37 20 50400947 50400947 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 50400947 50400947 C T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.3019 p.V1007I 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 97 0 0 56 24 30 CTCFL 0 genome.wustl.edu 37 20 56078494 56078494 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 56078494 56078494 T C SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1838 p.D613G 0.015 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 126 0 0 82 38 31.6667 STX16-NPEPL1 0 genome.wustl.edu 37 20 57245616 57245616 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 57245616 57245616 T C SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.605 p.V202A 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 96 0 0 87 5 5.43478 GNAS 0 genome.wustl.edu 37 20 57484601 57484601 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 57484601 57484601 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.688 p.D230N 0.999 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 68 0 0 42 10 19.2308 CTSZ 0 genome.wustl.edu 37 20 57576633 57576633 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 57576633 57576633 T C SNP CTSZ ENST00000217131 human ensembl 74_37 -1 known missense c.374 p.D125G 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 65 0 0 47 28 37.3333 MTG2 0 genome.wustl.edu 37 20 60776091 60776091 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 60776091 60776091 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known silent c.1179 p.A393 0.001 superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 44 0 0 23 14 37.8378 CABLES2 0 genome.wustl.edu 37 20 60971440 60971440 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 60971440 60971440 G A SNP CABLES2 ENST00000279101 human ensembl 74_37 -1 known missense c.458 p.P153L 0.996 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 465 0 0 276 100 26.5957 DIDO1 0 genome.wustl.edu 37 20 61512758 61512758 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 61512758 61512758 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4550 p.S1517L 0.997 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 174 0 0 106 45 29.8013 FAM110A 0 genome.wustl.edu 37 20 826169 826169 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 826169 826169 C T SNP FAM110A ENST00000246100 human ensembl 74_37 +1 known missense c.722 p.P241L 0.978 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 28 0 0 22 7 24.1379 KRTAP19-3 0 genome.wustl.edu 37 21 31864179 31864179 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 31864179 31864179 G A SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.97 p.R33C 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 295 0 0 220 88 28.5714 KCNE1 0 genome.wustl.edu 37 21 35821745 35821745 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 35821745 35821745 A T SNP KCNE1 ENST00000337385 human ensembl 74_37 -1 known missense c.188 p.L63Q 1.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE1 HGNC ENSG00000180509 66 0 0 43 23 34.8485 HLCS 0 genome.wustl.edu 37 21 38302609 38302609 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 38302609 38302609 C T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1121 p.S374N 0.946 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 76 0 0 43 24 35.8209 DSCAM 0 genome.wustl.edu 37 21 41450680 41450680 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 41450680 41450680 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4645 p.R1549W 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 45 0 0 41 14 25.4545 RIPK4 0 genome.wustl.edu 37 21 43161513 43161513 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 43161513 43161513 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1984 p.R662C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 175 0 0 96 36 27.2727 PRDM15 0 genome.wustl.edu 37 21 43241431 43241431 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 43241431 43241431 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.3150 p.N1050 0.983 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 201 0 0 145 58 28.5714 HSF2BP 0 genome.wustl.edu 37 21 44949714 44949714 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 44949714 44949714 A G SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.925 p.S309P 0.091 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 106 1 0.934579 70 39 35.7798 PWP2 0 genome.wustl.edu 37 21 45545974 45545974 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 45545974 45545974 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.2048 p.A683V 0.001 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 76 0 0 37 19 33.9286 PFKL 0 genome.wustl.edu 37 21 45738450 45738450 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 45738450 45738450 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1175 p.R392Q 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 66 0 0 46 20 30.303 KRTAP10-9 0 genome.wustl.edu 37 21 46047349 46047349 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 46047349 46047349 G A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known silent c.261 p.P87 0.000 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 248 1 0.401606 167 81 32.6613 LSS 0 genome.wustl.edu 37 21 47635654 47635654 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 21 47635654 47635654 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known silent c.837 p.N279 0.997 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 28 0 0 20 5 20 IL17RA 0 genome.wustl.edu 37 22 17589622 17589622 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 17589622 17589622 A G SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.1513 p.S505G 0.650 pfam_SEFIR pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 30 0 0 24 6 20 CDC45 0 genome.wustl.edu 37 22 19484942 19484942 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 19484942 19484942 C T SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known silent c.721 p.L241 0.958 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 125 1 0.793651 89 14 13.5922 GNB1L 0 genome.wustl.edu 37 22 19808208 19808208 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 19808208 19808208 G A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.167 p.T56M 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 87 0 0 46 26 36.1111 TANGO2 0 genome.wustl.edu 37 22 20024463 20024463 + Nonsense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 20024463 20024463 G T SNP TANGO2 ENST00000434570 human ensembl 74_37 +1 known nonsense c.25 p.G9* 0.000 NULL pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 77 0 0 52 20 27.7778 SUSD2 0 genome.wustl.edu 37 22 24581723 24581723 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 24581723 24581723 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1165 p.G389S 0.983 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 26 0 0 15 5 25 ZNRF3 0 genome.wustl.edu 37 22 29446517 29446517 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 29446517 29446517 A C SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.2348 p.E783A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 32 0 0 21 6 22.2222 DEPDC5 0 genome.wustl.edu 37 22 32234822 32234822 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 32234822 32234822 T C SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2506 p.Y836H 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 139 0 0 77 39 33.6207 TIMP3 0 genome.wustl.edu 37 22 33245493 33245493 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 33245493 33245493 C T SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.176 p.T59M 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 26 0 0 17 9 34.6154 EP300 0 genome.wustl.edu 37 22 41573805 41573805 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 41573805 41573805 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.6090 p.Q2030 0.951 pfam_Nuc_rcpt_coact_CREBbp pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 102 0 0 58 36 38.2979 TTLL12 0 genome.wustl.edu 37 22 43575870 43575870 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 43575870 43575870 G T SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.683 p.P228H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 69 0 0 33 16 32.6531 FBLN1 0 genome.wustl.edu 37 22 45970491 45970491 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 45970491 45970491 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1798 p.V600I 0.955 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 62 0 0 43 18 29.5082 CD96 0 genome.wustl.edu 37 3 111342620 111342620 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 111342620 111342620 A G SNP CD96 ENST00000283285 human ensembl 74_37 +1 known silent c.1248 p.S416 0.032 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 46 0 0 29 13 30.9524 POGLUT1 0 genome.wustl.edu 37 3 119211230 119211230 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 119211230 119211230 C T SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.1124 p.T375M 0.899 pfam_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 73 0 0 50 20 28.5714 MAATS1 0 genome.wustl.edu 37 3 119445101 119445101 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 119445101 119445101 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.766 p.A256T 0.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 33 0 0 33 12 26.6667 SEMA5B 0 genome.wustl.edu 37 3 122632189 122632189 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 122632189 122632189 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2525 p.T842M 0.997 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 15 0 0 8 4 33.3333 ALDH1L1 0 genome.wustl.edu 37 3 125877315 125877315 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 125877315 125877315 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.295 p.R99W 0.088 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 19 0 0 17 13 43.3333 STAG1 0 genome.wustl.edu 37 3 136060320 136060320 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 136060320 136060320 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3520 p.N1174D 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 59 0 0 42 13 23.6364 IL20RB 0 genome.wustl.edu 37 3 136701098 136701098 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 136701098 136701098 G A SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known silent c.312 p.T104 0.089 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 44 0 0 33 36 52.1739 GRK7 0 genome.wustl.edu 37 3 141497169 141497169 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 141497169 141497169 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.43 p.A15T 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 149 0 0 78 74 48.6842 ATR 0 genome.wustl.edu 37 3 142168422 142168422 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 142168422 142168422 A C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7784 p.I2595S 0.999 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 38 0 0 23 17 42.5 GPR87 0 genome.wustl.edu 37 3 151012734 151012734 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 151012734 151012734 A G SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.300 p.H100 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 66 0 0 59 42 41.5842 ANKRD28 0 genome.wustl.edu 37 3 15736300 15736300 + Silent SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 15736300 15736300 T G SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known silent c.1716 p.T572 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 71 0 0 62 27 30.3371 CCDC39 0 genome.wustl.edu 37 3 180334681 180334681 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 180334681 180334681 G A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2339 p.A780V 0.102 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 18 0 0 15 6 28.5714 MCF2L2 0 genome.wustl.edu 37 3 183013086 183013086 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 183013086 183013086 A G SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known splice_site c.1675+2 e13+2 1.000 - - - no_errors MCF2L2 HGNC ENSG00000053524 85 0 0 51 30 37.037 HTR3D 0 genome.wustl.edu 37 3 183756363 183756363 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 183756363 183756363 G A SNP HTR3D ENST00000382489 human ensembl 74_37 +1 known silent c.1086 p.A362 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 73 0 0 64 23 26.4368 SATB1 0 genome.wustl.edu 37 3 18391064 18391064 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 18391064 18391064 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.1986 p.T662 0.809 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 76 0 0 60 24 28.5714 FAM131A 0 genome.wustl.edu 37 3 184062389 184062389 + Nonsense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 184062389 184062389 C A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known nonsense c.732 p.C244* 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 190 1 0.52356 172 13 7.02703 TMEM41A 0 genome.wustl.edu 37 3 185214766 185214766 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 185214766 185214766 C T SNP TMEM41A ENST00000421852 human ensembl 74_37 -1 known silent c.123 p.S41 0.267 NULL pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 8 0 0 12 4 25 LMLN 0 genome.wustl.edu 37 3 197762864 197762864 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 197762864 197762864 C A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1817 p.P606H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 99 0 0 81 73 47.4026 MLH1 0 genome.wustl.edu 37 3 37048546 37048546 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 37048546 37048546 C T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known nonsense c.445 p.Q149* 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 59 0 0 18 16 47.0588 MYD88 0 genome.wustl.edu 37 3 38181942 38181942 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 38181942 38181942 A G SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known missense c.566 p.Q189R 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 95 0 0 43 15 25.8621 KLHL40 0 genome.wustl.edu 37 3 42728038 42728038 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 42728038 42728038 C A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.928 p.L310M 0.935 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 143 0 0 89 6 6.31579 ZNF197 0 genome.wustl.edu 37 3 44683553 44683553 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 44683553 44683553 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.931 p.G311R 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 58 0 0 22 16 42.1053 CCR1 0 genome.wustl.edu 37 3 46245531 46245531 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 46245531 46245531 C T SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.274 p.D92N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 115 0 0 50 34 40.4762 SLC25A20 0 genome.wustl.edu 37 3 48916807 48916807 + Missense_Mutation SNP A A T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 48916807 48916807 A T SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known missense c.401 p.I134N 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 SLC25A20 HGNC ENSG00000178537 298 0 0 131 84 39.0698 CCDC36 0 genome.wustl.edu 37 3 49294240 49294240 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49294240 49294240 G A SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.1310 p.R437Q 0.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 162 0 0 64 50 43.8596 CAMKV 0 genome.wustl.edu 37 3 49899733 49899733 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49899733 49899733 A G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.89 p.I30T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 127 0 0 52 7 11.8644 LSMEM2 0 genome.wustl.edu 37 3 50324164 50324164 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 50324164 50324164 G A SNP LSMEM2 ENST00000316436 human ensembl 74_37 +1 known missense c.232 p.V78I 0.007 NULL NULL - no_errors LSMEM2 HGNC ENSG00000179564 68 0 0 26 21 44.6809 PBRM1 0 genome.wustl.edu 37 3 52712520 52712520 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 52712520 52712520 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known nonsense c.232 p.R78* 0.918 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 77 0 0 35 17 32.6923 ERC2 0 genome.wustl.edu 37 3 56330130 56330130 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 56330130 56330130 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.991 p.R331W 0.266 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 155 0 0 66 49 42.6087 LRIG1 0 genome.wustl.edu 37 3 66433624 66433624 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 66433624 66433624 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.2273 p.A758V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 123 1 0.806452 99 52 34.4371 SSUH2 0 genome.wustl.edu 37 3 8671396 8671396 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 8671396 8671396 T A SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.542 p.H181L 0.904 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 100 0 0 76 24 24 MTTP 0 genome.wustl.edu 37 4 100534216 100534216 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 100534216 100534216 T C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.2136 p.D712 0.988 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 81 0 0 41 14 25.4545 SLC9B1 0 genome.wustl.edu 37 4 103911030 103911030 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 103911030 103911030 T C SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.138 p.I46M 0.002 NULL pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 22 0 0 21 7 25 DKK2 0 genome.wustl.edu 37 4 107845239 107845239 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 107845239 107845239 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.652 p.R218C 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 159 0 0 111 38 25.5034 SEC24B 0 genome.wustl.edu 37 4 110412492 110412492 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 110412492 110412492 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1175 p.S392N 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 111 0 0 100 7 6.54206 QRFPR 0 genome.wustl.edu 37 4 122261678 122261678 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 122261678 122261678 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.428 p.R143K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 43 0 0 31 21 40.3846 BBS7 0 genome.wustl.edu 37 4 122770017 122770017 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 122770017 122770017 C T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.916 p.V306M 0.199 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 98 0 0 63 17 21.25 FAT4 0 genome.wustl.edu 37 4 126371835 126371835 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 126371835 126371835 G C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9664 p.D3222H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 72 0 0 41 26 38.806 SLC25A31 0 genome.wustl.edu 37 4 128665869 128665869 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 128665869 128665869 G A SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.275 p.R92Q 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 90 0 0 38 33 46.4789 HSP90AB2P 0 genome.wustl.edu 37 4 13338379 13338379 + RNA SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 13338379 13338379 G A SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 45 0 0 29 28 49.1228 ASIC5 0 genome.wustl.edu 37 4 156775279 156775279 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 156775279 156775279 T C SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.535 p.N179D 0.012 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 97 0 0 27 28 50.9091 RWDD4 0 genome.wustl.edu 37 4 184572391 184572391 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 184572391 184572391 G A SNP RWDD4 ENST00000326397 human ensembl 74_37 -1 known silent c.195 p.N65 0.998 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD4 HGNC ENSG00000182552 137 0 0 46 34 42.5 ARAP2 0 genome.wustl.edu 37 4 36230286 36230286 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 36230286 36230286 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.823 p.V275I 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 65 0 0 34 27 44.2623 GNPDA2 0 genome.wustl.edu 37 4 44719213 44719213 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 44719213 44719213 C T SNP GNPDA2 ENST00000295448 human ensembl 74_37 -1 known missense c.326 p.G109E 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 43 0 0 63 15 19.2308 CWH43 0 genome.wustl.edu 37 4 48994107 48994107 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 48994107 48994107 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.511 p.D171Y 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 57 0 0 60 15 20 NOA1 0 genome.wustl.edu 37 4 57843622 57843622 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 57843622 57843622 G A SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.130 p.H44Y 0.355 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 96 0 0 55 49 47.1154 MAN2B2 0 genome.wustl.edu 37 4 6615986 6615986 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 6615986 6615986 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2605 p.V869M 0.016 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 90 0 0 40 57 58.7629 TMPRSS11A 0 genome.wustl.edu 37 4 68784830 68784830 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 68784830 68784830 G A SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known silent c.822 p.Y274 0.148 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 104 0 0 75 33 30.5556 SULT1B1 0 genome.wustl.edu 37 4 70620844 70620844 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 70620844 70620844 A C SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.92 p.I31S 0.002 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 117 0 0 100 32 24.2424 SLC4A4 0 genome.wustl.edu 37 4 72306384 72306384 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 72306384 72306384 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.859 p.V287M 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 120 0 0 86 34 28.3333 ARHGAP24 0 genome.wustl.edu 37 4 86898779 86898779 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 86898779 86898779 T C SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.863 p.L288S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 39 0 0 18 15 45.4545 GRID2 0 genome.wustl.edu 37 4 94006349 94006349 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 94006349 94006349 G C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.448 p.V150L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 121 0 0 89 45 33.5821 FAM170A 0 genome.wustl.edu 37 5 118969897 118969897 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 118969897 118969897 T C SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known silent c.454 p.L152 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 89 0 0 59 20 25.3165 SLC27A6 0 genome.wustl.edu 37 5 128302015 128302015 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 128302015 128302015 G T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.185 p.S62I 0.999 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 115 0 0 79 34 30.0885 SLC22A4 0 genome.wustl.edu 37 5 131658040 131658040 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 131658040 131658040 G A SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known silent c.816 p.P272 0.935 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 78 0 0 67 4 5.6338 IL4 0 genome.wustl.edu 37 5 132015557 132015557 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 132015557 132015557 G T SNP IL4 ENST00000231449 human ensembl 74_37 +1 known missense c.335 p.R112M 0.793 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4,prints_IL-4 - no_errors IL4 HGNC ENSG00000113520 52 0 0 30 7 18.9189 SPOCK1 0 genome.wustl.edu 37 5 136403476 136403476 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 136403476 136403476 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.517 p.A173T 0.568 pfam_Kazal_dom,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 97 0 0 90 23 20.354 PCDHA4 0 genome.wustl.edu 37 5 140188814 140188814 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140188814 140188814 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2042 p.R681Q 0.016 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 91 0 0 75 25 25 PCDHA6 0 genome.wustl.edu 37 5 140209647 140209647 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140209647 140209647 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1971 p.P657 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 105 0 0 87 5 5.43478 PCDHB13 0 genome.wustl.edu 37 5 140594245 140594245 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140594245 140594245 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.550 p.R184C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 73 0 0 53 18 25.3521 PCDHGB1 0 genome.wustl.edu 37 5 140731410 140731410 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140731410 140731410 T C SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1583 p.L528P 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 101 0 0 75 24 24.2424 PCDHGB4 0 genome.wustl.edu 37 5 140768213 140768213 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140768213 140768213 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.762 p.N254 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 230 0 0 171 56 24.6696 PCDHGA12 0 genome.wustl.edu 37 5 140811628 140811628 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 140811628 140811628 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1302 p.T434 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 71 0 0 55 15 21.4286 POU4F3 0 genome.wustl.edu 37 5 145719368 145719368 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 145719368 145719368 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.378 p.T126 0.999 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 64 0 0 47 17 26.5625 PDE6A 0 genome.wustl.edu 37 5 149262996 149262996 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 149262996 149262996 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2131 p.V711I 0.995 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 34 0 0 22 10 31.25 RNF145 0 genome.wustl.edu 37 5 158601021 158601021 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 158601021 158601021 C T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.857 p.R286H 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 45 0 0 30 14 31.8182 FBXL7 0 genome.wustl.edu 37 5 15937247 15937247 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 15937247 15937247 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1428 p.R476 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 17 0 0 17 12 41.3793 HMMR 0 genome.wustl.edu 37 5 162898454 162898454 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 162898454 162898454 A G SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.635 p.Q212R 0.988 NULL NULL - no_errors HMMR HGNC ENSG00000072571 31 0 0 22 3 12 TLX3 0 genome.wustl.edu 37 5 170736525 170736525 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 170736525 170736525 G A SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known silent c.156 p.P52 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 16 0 0 12 4 25 FGF18 0 genome.wustl.edu 37 5 170883626 170883626 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 170883626 170883626 C T SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.441 p.S147 0.030 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 197 0 0 102 41 28.6713 SIMC1 0 genome.wustl.edu 37 5 175763760 175763760 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 175763760 175763760 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.2152 p.R718C 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 193 0 0 135 52 27.8075 ADAMTS2 0 genome.wustl.edu 37 5 178770985 178770985 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 178770985 178770985 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.317 p.G106D 0.763 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 61 0 0 58 9 13.4328 CNOT6 0 genome.wustl.edu 37 5 179976951 179976951 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 179976951 179976951 G A SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.133 p.A45T 0.995 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 152 0 0 100 55 35.4839 CDH10 0 genome.wustl.edu 37 5 24511445 24511445 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 24511445 24511445 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.993 p.T331 0.695 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 139 0 0 121 38 23.8994 CAPSL 0 genome.wustl.edu 37 5 35921206 35921206 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 35921206 35921206 C T SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known missense c.17 p.R6H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 52 0 0 34 13 27.6596 IRX1 0 genome.wustl.edu 37 5 3600335 3600335 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 3600335 3600335 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1273 p.G425R 0.006 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 48 0 0 24 15 38.4615 EGFLAM 0 genome.wustl.edu 37 5 38418193 38418193 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 38418193 38418193 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1520 p.R507Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 97 0 0 80 30 27.2727 MROH2B 0 genome.wustl.edu 37 5 41018864 41018864 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 41018864 41018864 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2602 p.A868T 0.974 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 82 0 0 58 19 24.6753 TRIM23 0 genome.wustl.edu 37 5 64900775 64900775 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 64900775 64900775 A G SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.1142 p.I381T 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 113 0 0 72 26 26.5306 BDP1 0 genome.wustl.edu 37 5 70779723 70779723 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 70779723 70779723 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known nonsense c.1069 p.Q357* 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 42 0 0 39 9 18.75 TMEM174 0 genome.wustl.edu 37 5 72469397 72469397 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 72469397 72469397 G A SNP TMEM174 ENST00000296776 human ensembl 74_37 +1 known silent c.327 p.P109 0.017 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 121 0 0 85 31 26.7241 ADCY2 0 genome.wustl.edu 37 5 7709437 7709437 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 7709437 7709437 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.1515 p.K505 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 39 0 0 30 9 23.0769 RASGRF2 0 genome.wustl.edu 37 5 80388670 80388670 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 80388670 80388670 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.1441 p.R481C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 111 0 0 62 22 26.1905 VCAN 0 genome.wustl.edu 37 5 82815520 82815520 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 82815520 82815520 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.1395 p.G465 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 94 0 0 86 18 17.3077 SIM1 0 genome.wustl.edu 37 6 100841490 100841490 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 100841490 100841490 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.1443 p.T481 0.251 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 78 0 0 67 27 28.7234 COL10A1 0 genome.wustl.edu 37 6 116442007 116442007 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 116442007 116442007 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known silent c.1272 p.V424 0.002 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 76 0 0 22 25 53.1915 RNF217 0 genome.wustl.edu 37 6 125402642 125402642 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 125402642 125402642 C T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.839 p.A280V 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 31 0 0 13 15 53.5714 KIAA1244 0 genome.wustl.edu 37 6 138657551 138657551 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 138657551 138657551 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.6462 p.T2154 0.041 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 130 0 0 53 53 50 SYNE1 0 genome.wustl.edu 37 6 152651515 152651515 + Silent SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 152651515 152651515 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.14305 p.R4769 0.995 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 70 0 0 26 39 60 SNX9 0 genome.wustl.edu 37 6 158359772 158359772 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 158359772 158359772 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.1641 p.A547 0.002 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 271 0 0 124 87 41.2322 MAP3K4 0 genome.wustl.edu 37 6 161501972 161501972 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 161501972 161501972 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.2157 p.S719 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 36 0 0 12 11 47.8261 OR12D2 0 genome.wustl.edu 37 6 29364694 29364694 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 29364694 29364694 C T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.218 p.T73M 0.113 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 80 0 0 33 43 56.5789 VARS2 0 genome.wustl.edu 37 6 30889902 30889902 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 30889902 30889902 C A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.1906 p.L636I 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 154 0 0 41 80 66.1157 VPS52 0 genome.wustl.edu 37 6 33235075 33235075 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 33235075 33235075 G A SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.1015 p.R339C 1.000 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 103 0 0 30 58 65.9091 C6orf222 0 genome.wustl.edu 37 6 36298206 36298206 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 36298206 36298206 C T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.262 p.E88K 0.840 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 104 0 0 75 27 26.4706 DNAH8 0 genome.wustl.edu 37 6 38718259 38718259 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 38718259 38718259 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 64 0 0 23 28 54.902 MOCS1 0 genome.wustl.edu 37 6 39895280 39895280 + Splice_Site SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 39895280 39895280 A G SNP MOCS1 ENST00000373175 human ensembl 74_37 -1 known splice_site c.36+2 e1+2 0.000 - - - no_errors MOCS1 HGNC ENSG00000124615 32 0 0 3 10 76.9231 DST 0 genome.wustl.edu 37 6 56417104 56417104 + Nonsense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 56417104 56417104 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.16393 p.E5465* 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,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_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 46 0 0 75 16 17.5824 DST 0 genome.wustl.edu 37 6 56471473 56471473 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 56471473 56471473 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.7854 p.T2618 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 110 0 0 123 27 18 OOEP 0 genome.wustl.edu 37 6 74079007 74079007 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 74079007 74079007 C T SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.292 p.G98R 0.001 NULL NULL - no_errors OOEP HGNC ENSG00000203907 48 0 0 16 17 51.5152 CD109 0 genome.wustl.edu 37 6 74440071 74440071 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 74440071 74440071 C A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.281 p.P94H 0.998 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 67 0 0 24 24 50 DSP 0 genome.wustl.edu 37 6 7570791 7570791 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 7570791 7570791 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1696 p.A566T 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 112 0 0 52 65 55.5556 IBTK 0 genome.wustl.edu 37 6 82936963 82936963 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 82936963 82936963 G T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.600 p.T200 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 120 0 0 102 32 23.8806 SYNCRIP 0 genome.wustl.edu 37 6 86324913 86324913 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 86324913 86324913 C T SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1433 p.R478H 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 51 0 0 53 14 20.8955 MDN1 0 genome.wustl.edu 37 6 90453364 90453364 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 90453364 90453364 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.4248 p.C1416 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 114 0 0 97 40 29.1971 CASP8AP2 0 genome.wustl.edu 37 6 90572780 90572780 + RNA SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 90572780 90572780 T C SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CASP8AP2 HGNC ENSG00000118412 112 0 0 85 33 27.9661 MANEA 0 genome.wustl.edu 37 6 96052733 96052733 + Nonsense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 96052733 96052733 C T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known nonsense c.685 p.R229* 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 16 0 0 7 3 30 MUC17 0 genome.wustl.edu 37 7 100686732 100686732 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 100686732 100686732 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12035 p.S4012N 0.028 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 158 0 0 160 32 16.6667 MOGAT3 0 genome.wustl.edu 37 7 100844061 100844061 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 100844061 100844061 G A SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.75 p.G25 0.000 NULL pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 36 0 0 36 11 23.4043 ALKBH4 0 genome.wustl.edu 37 7 102100207 102100207 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 102100207 102100207 G A SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known silent c.165 p.A55 0.015 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 142 0 0 114 29 20.2797 CDHR3 0 genome.wustl.edu 37 7 105645092 105645092 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 105645092 105645092 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known silent c.1011 p.D337 0.990 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 52 0 0 62 18 22.5 CAPZA2 0 genome.wustl.edu 37 7 116544380 116544380 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 116544380 116544380 A G SNP CAPZA2 ENST00000361183 human ensembl 74_37 +1 known silent c.369 p.S123 0.997 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA2 HGNC ENSG00000198898 117 0 0 122 28 18.6667 CNOT4 0 genome.wustl.edu 37 7 135122963 135122963 + Silent SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 135122963 135122963 T A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.117 p.R39 1.000 pfscan_Znf_RING pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 51 0 0 33 10 23.2558 MGAM 0 genome.wustl.edu 37 7 141752697 141752697 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 141752697 141752697 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.3072 p.S1024 0.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 87 0 0 59 31 34.4444 CLCN1 0 genome.wustl.edu 37 7 143047660 143047660 + Splice_Site SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 143047660 143047660 G A SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known splice_site c.2509-1 e22-1 1.000 - - - no_errors CLCN1 HGNC ENSG00000188037 178 0 0 121 29 19.3333 ZNF467 0 genome.wustl.edu 37 7 149461880 149461880 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 149461880 149461880 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.1711 p.A571T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 39 0 0 23 9 28.125 KCNH2 0 genome.wustl.edu 37 7 150648860 150648860 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 150648860 150648860 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1621 p.R541C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 67 0 0 40 15 27.2727 HNRNPA2B1 0 genome.wustl.edu 37 7 26232144 26232144 + Nonsense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 26232144 26232144 G A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known nonsense c.1054 p.R352* 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 201 0 0 146 48 24.7423 HOXA5 0 genome.wustl.edu 37 7 27182949 27182949 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 27182949 27182949 G A SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.278 p.T93M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 27 0 0 15 12 44.4444 RP9 0 genome.wustl.edu 37 7 33134893 33134893 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 33134893 33134893 G A SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.619 p.R207W 0.998 NULL NULL - no_errors RP9 HGNC ENSG00000164610 57 0 0 51 17 25 EPDR1 0 genome.wustl.edu 37 7 37988640 37988640 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 37988640 37988640 A G SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known silent c.828 p.S276 1.000 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 67 0 0 40 16 28.5714 HECW1 0 genome.wustl.edu 37 7 43485063 43485063 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 43485063 43485063 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.2292 p.N764 0.024 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 86 0 0 63 24 27.5862 GCK 0 genome.wustl.edu 37 7 44186107 44186107 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 44186107 44186107 C T SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.977 p.R326H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 71 0 0 30 16 34.7826 TNRC18 0 genome.wustl.edu 37 7 5353119 5353119 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 5353119 5353119 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.7403 p.G2468D 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 44 0 0 25 10 28.5714 EGFR 0 genome.wustl.edu 37 7 55266466 55266466 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 55266466 55266466 G T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.2758 p.A920S 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 82 0 0 77 29 27.3585 ZNF733P 0 genome.wustl.edu 37 7 62752449 62752449 + RNA SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 62752449 62752449 T C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 14 0 0 8 3 27.2727 TYW1B 0 genome.wustl.edu 37 7 72178745 72178745 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 72178745 72178745 C T SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.82 p.V28I 1.000 pfam_rSAM pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 32 0 0 18 8 30.7692 STYXL1 0 genome.wustl.edu 37 7 75657995 75657995 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 75657995 75657995 C T SNP STYXL1 ENST00000248600 human ensembl 74_37 -1 known missense c.130 p.E44K 0.997 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 48 0 0 27 11 28.9474 MIOS 0 genome.wustl.edu 37 7 7612322 7612322 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 7612322 7612322 T C SNP MIOS ENST00000340080 human ensembl 74_37 +1 known silent c.216 p.Y72 0.997 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 94 0 0 78 32 29.0909 GNAI1 0 genome.wustl.edu 37 7 79840378 79840378 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 79840378 79840378 T G SNP GNAI1 ENST00000351004 human ensembl 74_37 +1 known missense c.684 p.S228R 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI1 HGNC ENSG00000127955 46 0 0 32 13 28.8889 SEMA3E 0 genome.wustl.edu 37 7 82996915 82996915 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 82996915 82996915 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.2315 p.T772M 0.038 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 223 0 0 128 68 34.6939 GRM3 0 genome.wustl.edu 37 7 86394804 86394804 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 86394804 86394804 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.343 p.A115T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 149 0 0 113 44 28.0255 ABCB1 0 genome.wustl.edu 37 7 87175277 87175277 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 87175277 87175277 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1789 p.V597I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 80 0 0 48 16 25 SAMD9 0 genome.wustl.edu 37 7 92733460 92733460 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 92733460 92733460 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.1951 p.A651T 0.166 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 98 0 0 110 23 17.2932 CCDC132 0 genome.wustl.edu 37 7 92987643 92987643 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 92987643 92987643 G A SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known silent c.2790 p.K930 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 97 0 0 91 61 40.1316 AP4M1 0 genome.wustl.edu 37 7 99702674 99702674 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99702674 99702674 G A SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.680 p.R227H 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 110 0 0 85 17 16.6667 TAF6 0 genome.wustl.edu 37 7 99711885 99711885 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99711885 99711885 G A SNP TAF6 ENST00000472509 human ensembl 74_37 -1 putative missense c.119 p.P40L 0.038 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 52 0 0 34 36 51.4286 PRSS55 0 genome.wustl.edu 37 8 10396039 10396039 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 10396039 10396039 C T SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known silent c.795 p.Y265 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 82 0 0 29 18 38.2979 AARD 0 genome.wustl.edu 37 8 117950628 117950628 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 117950628 117950628 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.146 p.A49V 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 52 0 0 25 11 30.5556 ASAP1 0 genome.wustl.edu 37 8 131073267 131073267 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 131073267 131073267 G A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2750 p.P917L 0.949 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 189 0 0 136 53 28.0423 JRK 0 genome.wustl.edu 37 8 143746052 143746052 + RNA SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 143746052 143746052 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors JRK HGNC ENSG00000234616 20 0 0 19 4 17.3913 SCRIB 0 genome.wustl.edu 37 8 144874281 144874281 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 144874281 144874281 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4537 p.A1513T 0.997 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 35 0 0 24 9 27.2727 SCRIB 0 genome.wustl.edu 37 8 144886953 144886953 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 144886953 144886953 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.2794 p.V932I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 27 0 0 24 6 20 OPLAH 0 genome.wustl.edu 37 8 145107481 145107481 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 145107481 145107481 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.3174 p.R1058 0.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 39 0 0 23 4 14.8148 CPSF1 0 genome.wustl.edu 37 8 145626385 145626385 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 145626385 145626385 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.472 p.R158W 0.642 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 45 0 0 28 13 31.7073 TUSC3 0 genome.wustl.edu 37 8 15601051 15601051 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 15601051 15601051 C T SNP TUSC3 ENST00000510836 human ensembl 74_37 +1 known missense c.803 p.P268L 1.000 NULL pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 162 0 0 67 42 38.5321 SLC7A2 0 genome.wustl.edu 37 8 17412506 17412506 + Silent SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 17412506 17412506 G T SNP SLC7A2 ENST00000398090 human ensembl 74_37 +1 known silent c.1227 p.R409 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 104 0 0 54 38 41.3043 CSGALNACT1 0 genome.wustl.edu 37 8 19263481 19263481 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19263481 19263481 C T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1409 p.R470Q 0.999 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 143 0 0 49 50 50.5051 CSGALNACT1 0 genome.wustl.edu 37 8 19277874 19277874 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19277874 19277874 G A SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1109 p.T370M 0.970 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 139 0 0 56 43 43.4343 LPL 0 genome.wustl.edu 37 8 19805825 19805825 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 19805825 19805825 A G SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.223 p.T75A 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 90 0 0 42 36 46.1538 SORBS3 0 genome.wustl.edu 37 8 22412434 22412434 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 22412434 22412434 C T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.161 p.A54V 0.965 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 207 0 0 66 54 45 CDCA2 0 genome.wustl.edu 37 8 25346199 25346199 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 25346199 25346199 G A SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known silent c.1665 p.K555 0.992 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 45 0 0 9 10 52.6316 TRIM35 0 genome.wustl.edu 37 8 27146715 27146715 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 27146715 27146715 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.868 p.R290C 0.996 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 33 0 0 9 17 65.3846 KCNU1 0 genome.wustl.edu 37 8 36671887 36671887 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 36671887 36671887 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.895 p.G299W 0.891 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 19 0 0 22 5 18.5185 FGFR1 0 genome.wustl.edu 37 8 38287319 38287319 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 38287319 38287319 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.338 p.R113H 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 26 0 0 21 10 32.2581 ADAM18 0 genome.wustl.edu 37 8 39468186 39468186 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 39468186 39468186 G T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.483 p.W161C 0.445 NULL 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_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 48 0 0 24 18 42.8571 VDAC3 0 genome.wustl.edu 37 8 42260930 42260930 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 42260930 42260930 G A SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 81 0 0 37 14 27.451 PXDNL 0 genome.wustl.edu 37 8 52322074 52322074 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 52322074 52322074 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2110 p.A704T 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 75 0 0 43 16 27.1186 NPBWR1 0 genome.wustl.edu 37 8 53852937 53852937 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 53852937 53852937 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.470 p.A157V 0.987 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 22 0 0 19 3 13.6364 SLCO5A1 0 genome.wustl.edu 37 8 70585156 70585156 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 70585156 70585156 G T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2495 p.S832Y 0.789 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 65 0 0 56 14 20 NCOA2 0 genome.wustl.edu 37 8 71053526 71053526 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 71053526 71053526 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2921 p.R974Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 42 0 0 32 15 31.9149 TERF1 0 genome.wustl.edu 37 8 73942616 73942616 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 73942616 73942616 A G SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known silent c.933 p.T311 0.996 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 10 0 0 15 6 28.5714 ZFHX4 0 genome.wustl.edu 37 8 77764051 77764051 + Missense_Mutation SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 77764051 77764051 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4894 p.V1632L 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 59 0 0 49 16 24.6154 NBN 0 genome.wustl.edu 37 8 90949303 90949303 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 90949303 90949303 C T SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.2185 p.V729I 1.000 pfam_DNA-repair_Nbs1_C,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 23 0 0 13 4 23.5294 OSR2 0 genome.wustl.edu 37 8 99961360 99961360 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 99961360 99961360 T C SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.543 p.N181 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 105 0 0 72 27 27.2727 TSTD2 0 genome.wustl.edu 37 9 100364941 100364941 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 100364941 100364941 G A SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.1361 p.A454V 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 165 0 0 108 106 49.5327 MSANTD3 0 genome.wustl.edu 37 9 103204536 103204536 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 103204536 103204536 C A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known missense c.316 p.L106I 0.898 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 73 0 0 62 27 30.3371 GRIN3A 0 genome.wustl.edu 37 9 104432577 104432577 + Missense_Mutation SNP T T G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 104432577 104432577 T G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2117 p.K706T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 166 0 0 154 134 46.5278 ZNF462 0 genome.wustl.edu 37 9 109690583 109690583 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 109690583 109690583 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4390 p.A1464T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 50 0 0 54 11 16.9231 ZNF462 0 genome.wustl.edu 37 9 109691364 109691364 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 109691364 109691364 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.5171 p.A1724V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 47 0 0 40 22 35.4839 OR1K1 0 genome.wustl.edu 37 9 125563110 125563110 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 125563110 125563110 C T SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known missense c.709 p.R237W 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 77 0 0 57 24 29.6296 OLFML2A 0 genome.wustl.edu 37 9 127549519 127549519 + Splice_Site SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 127549519 127549519 T C SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known splice_site c.354+2 e2+2 1.000 - - - no_errors OLFML2A HGNC ENSG00000185585 62 0 0 41 14 25.4545 ST6GALNAC6 0 genome.wustl.edu 37 9 130653086 130653086 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 130653086 130653086 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known silent c.534 p.T178 0.006 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 107 0 0 61 30 32.967 SETX 0 genome.wustl.edu 37 9 135202646 135202646 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 135202646 135202646 A G SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.4339 p.L1447 0.003 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 153 0 0 104 41 28.2759 SOHLH1 0 genome.wustl.edu 37 9 138585512 138585512 + Silent SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 138585512 138585512 A G SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known silent c.1095 p.D365 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 11 0 0 9 6 40 NOTCH1 0 genome.wustl.edu 37 9 139412252 139412252 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 139412252 139412252 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1393 p.A465T 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,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_dom,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 ENSG00000148400 117 0 0 71 31 30.3922 CDKN2A 0 genome.wustl.edu 37 9 21970956 21970956 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 21970956 21970956 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known silent c.402 p.A134 0.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 68 0 0 23 13 36.1111 KIAA1161 0 genome.wustl.edu 37 9 34371043 34371043 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34371043 34371043 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.1797 p.I599 0.994 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 56 0 0 27 7 20.5882 CCDC107 0 genome.wustl.edu 37 9 35661172 35661172 + Missense_Mutation SNP T T A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 35661172 35661172 T A SNP CCDC107 ENST00000426546 human ensembl 74_37 +1 known missense c.840 p.S280R 0.841 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 54 0 0 43 10 18.8679 CA9 0 genome.wustl.edu 37 9 35676313 35676313 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 35676313 35676313 G A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.767 p.S256N 0.996 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 311 0 0 237 86 26.6254 GLIPR2 0 genome.wustl.edu 37 9 36148589 36148589 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 36148589 36148589 G A SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known silent c.168 p.P56 0.793 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 45 0 0 34 16 32 APBA1 0 genome.wustl.edu 37 9 72067121 72067121 + Missense_Mutation SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 72067121 72067121 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1885 p.K629E 1.000 superfamily_PDZ,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 146 0 0 121 46 27.5449 RFK 0 genome.wustl.edu 37 9 79009081 79009081 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 79009081 79009081 G A SNP RFK ENST00000376736 human ensembl 74_37 -1 known missense c.7 p.H3Y 1.000 superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk - no_errors RFK HGNC ENSG00000135002 12 0 0 16 3 15.7895 SPATA31D5P 0 genome.wustl.edu 37 9 84530710 84530710 + RNA SNP G G T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 84530710 84530710 G T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 234 0 0 172 57 24.8908 SPATA31D1 0 genome.wustl.edu 37 9 84608215 84608215 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 84608215 84608215 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2830 p.L944I 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 107 0 0 94 18 16.0714 UBQLN1 0 genome.wustl.edu 37 9 86294790 86294790 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 86294790 86294790 A G SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.611 p.L204P 1.000 smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 206 0 0 147 63 30 CDK20 0 genome.wustl.edu 37 9 90585494 90585494 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 90585494 90585494 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.552 p.G184 0.926 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK20 HGNC ENSG00000156345 38 0 0 23 8 25.8065 WNK2 0 genome.wustl.edu 37 9 96070720 96070720 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 96070720 96070720 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6481 p.D2161N 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 21 0 0 14 6 30 ERCC6L2 0 genome.wustl.edu 37 9 98691145 98691145 + Missense_Mutation SNP A A C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 98691145 98691145 A C SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1216 p.M406L 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 44 0 0 33 28 45.9016 CDC14B 0 genome.wustl.edu 37 9 99266039 99266039 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 99266039 99266039 C T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1493 p.R498H 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 61 0 0 64 18 21.9512 CDC14B 0 genome.wustl.edu 37 9 99285623 99285623 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 99285623 99285623 C T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.1165 p.A389T 0.787 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 131 0 0 154 39 20.2073 VSIG1 0 genome.wustl.edu 37 X 107310301 107310301 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 107310301 107310301 G A SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known missense c.457 p.D153N 0.985 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 116 0 0 130 10 7.14286 CUL4B 0 genome.wustl.edu 37 X 119680426 119680426 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 119680426 119680426 G A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.876 p.C292 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 20 0 0 5 4 44.4444 GPR112 0 genome.wustl.edu 37 X 135431523 135431523 + Silent SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 135431523 135431523 C A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.5658 p.P1886 0.017 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 80 0 0 79 6 7.05882 OFD1 0 genome.wustl.edu 37 X 13785383 13785383 + Missense_Mutation SNP G G C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 13785383 13785383 G C SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.2737 p.E913Q 0.001 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 165 0 0 187 101 35.0694 MAGEA3 0 genome.wustl.edu 37 X 151935781 151935781 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 151935781 151935781 G A SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.386 p.P129L 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 99 0 0 40 55 57.8947 ZNF185 0 genome.wustl.edu 37 X 152128370 152128370 + Missense_Mutation SNP A A G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 152128370 152128370 A G SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1630 p.S544G 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 28 0 0 10 14 58.3333 ASMTL 0 genome.wustl.edu 37 X 1522323 1522323 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 1522323 1522323 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.1705 p.A569T 0.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 137 0 0 114 29 20.2797 ATP2B3 0 genome.wustl.edu 37 X 152830541 152830541 + Missense_Mutation SNP C C A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 152830541 152830541 C A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3322 p.L1108M 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 9 0 0 2 4 66.6667 AKAP17A 0 genome.wustl.edu 37 X 1720221 1720221 + Missense_Mutation SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 1720221 1720221 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.1822 p.R608W 0.005 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 33 0 0 14 6 30 EIF2S3 0 genome.wustl.edu 37 X 24089745 24089745 + Silent SNP C C T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 24089745 24089745 C T SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known silent c.1083 p.V361 0.995 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 67 0 0 26 31 54.386 PPP2R3B 0 genome.wustl.edu 37 X 306400 306400 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 306400 306400 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.887 p.A296V 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 246 1 0.404858 133 104 43.8819 BCOR 0 genome.wustl.edu 37 X 39933723 39933723 + Silent SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 39933723 39933723 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known silent c.876 p.G292 0.319 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 10 0 0 3 6 66.6667 TRO 0 genome.wustl.edu 37 X 54949723 54949723 + Missense_Mutation SNP G G A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 54949723 54949723 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.758 p.R253Q 0.044 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 12 0 0 8 9 52.9412 ACRC 0 genome.wustl.edu 37 X 70824237 70824237 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 70824237 70824237 T C SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.1110 p.A370 0.001 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 12 0 0 10 14 58.3333 TSPY2 0 genome.wustl.edu 37 Y 6115677 6115677 + Silent SNP T T C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 Y 6115677 6115677 T C SNP TSPY2 ENST00000320701 human ensembl 74_37 +1 known silent c.639 p.N213 0.909 pfam_NAP_family pfam_NAP_family - no_errors TSPY2 HGNC ENSG00000168757 191 0 0 168 42 20 TRIM33 0 genome.wustl.edu 37 1 114952868 114952868 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 114952868 114952868 G - DEL TRIM33 ENST00000358465 human ensembl 74_37 -1 known frame_shift_del c.2132 p.P711fs 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 104 0 0 68 17 20 CREB3L4 0 genome.wustl.edu 37 1 153945250 153945252 + In_Frame_Del DEL GAG GAG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 153945250 153945252 GAG - DEL CREB3L4 ENST00000271889 human ensembl 74_37 +1 known in_frame_del c.574_576 p.E193in_frame_del 1.000:1.000:0.999 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 41 0 0 34 7 17.0732 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 38 0 0 38 20 34.4828 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 24 0 0 22 9 29.0323 EPRS 0 genome.wustl.edu 37 1 220174484 220174484 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 220174484 220174484 T - DEL EPRS ENST00000366923 human ensembl 74_37 -1 known frame_shift_del c.2177 p.N726fs 0.813 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 51 0 0 44 14 24.1379 RYR2 0 genome.wustl.edu 37 1 237617790 237617790 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 237617790 237617790 C - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.1386 p.P464fs 0.997 pfam_Ca-rel_channel 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_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 52 0 0 45 12 21.0526 TCEB3 0 genome.wustl.edu 37 1 24078022 24078024 + In_Frame_Del DEL GAA GAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 24078022 24078024 GAA - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known in_frame_del c.1005_1007 p.K338in_frame_del 0.892:0.989:0.992 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 79 0 0 43 21 32.8125 ARID1A 0 genome.wustl.edu 37 1 27099980 27099981 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 27099980 27099981 AG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3859_3860 p.R1287fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 41 0 0 33 10 23.2558 ARID1A 0 genome.wustl.edu 37 1 27100175 27100176 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 27100175 27100176 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3971_3972 p.Q1327fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 135 0 0 80 36 31.0345 NCDN 0 genome.wustl.edu 37 1 36028192 36028192 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 36028192 36028192 C - DEL NCDN ENST00000356090 human ensembl 74_37 +1 known frame_shift_del c.1343 p.T450fs 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 36 0 0 30 12 28.5714 FAAH 0 genome.wustl.edu 37 1 46871370 46871370 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 46871370 46871370 C - DEL FAAH ENST00000243167 human ensembl 74_37 +1 known frame_shift_del c.689 p.L232fs 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 184 0 0 139 44 24.0437 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 27 0 0 16 8 33.3333 CLCA2 0 genome.wustl.edu 37 1 86921043 86921043 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 86921043 86921043 C - DEL CLCA2 ENST00000370565 human ensembl 74_37 +1 known frame_shift_del c.2665 p.N891fs 0.001 NULL pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 319 0 0 281 68 19.4842 CCDC18 0 genome.wustl.edu 37 1 93671100 93671103 + Frame_Shift_Del DEL CTAA CTAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 1 93671100 93671103 CTAA - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1183_1186 p.N397fs 0.990:0.981:0.006:0.001 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 43 0 0 39 7 15.2174 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 154 0 0 118 42 26.25 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 62 0 0 47 20 29.8507 EIF3A 0 genome.wustl.edu 37 10 120810064 120810066 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 120810064 120810066 CTC - DEL EIF3A ENST00000369144 human ensembl 74_37 -1 known in_frame_del c.2442_2440 p.E814in_frame_del 0.992:1.000:1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 520 0 0 364 80 18.018 CDNF 0 genome.wustl.edu 37 10 14862151 14862152 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 14862151 14862152 - T INS CDNF ENST00000465530 human ensembl 74_37 -1 known frame_shift_ins c.392_391 p.T131fs 0.185:0.527 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 125 0 0 93 30 24.3902 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 99 0 0 102 33 24.4444 OR8D4 0 genome.wustl.edu 37 11 123777147 123777147 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 123777147 123777147 A - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.9 p.N5fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 51 0 0 37 20 35.0877 IFITM1 0 genome.wustl.edu 37 11 314210 314210 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 314210 314210 C - DEL IFITM1 ENST00000328221 human ensembl 74_37 +1 known frame_shift_del c.40 p.S16fs 0.007 NULL pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 168 0 0 109 30 21.5827 PHF21A 0 genome.wustl.edu 37 11 45955606 45955607 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 45955606 45955607 - G INS PHF21A ENST00000257821 human ensembl 74_37 -1 known frame_shift_ins c.1959_1958 p.A654fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 82 0 0 41 13 24.0741 OR4C3 0 genome.wustl.edu 37 11 48346746 48346747 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 48346746 48346747 - T INS OR4C3 ENST00000319856 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.L88fs 1.000:0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 112 0 0 114 16 12.3077 GIF 0 genome.wustl.edu 37 11 59599271 59599272 + Splice_Site INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 59599271 59599272 - A INS GIF ENST00000257248 human ensembl 74_37 -1 known splice_site_ins c.1074-3_1074-2 e8-2 0.963:0.947 - - - no_errors GIF HGNC ENSG00000134812 64 0 0 33 16 32.6531 SMPD1 0 genome.wustl.edu 37 11 6413286 6413286 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 11 6413286 6413286 C - DEL SMPD1 ENST00000342245 human ensembl 74_37 +1 known frame_shift_del c.991 p.F333fs 1.000 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 72 0 0 53 18 25.3521 PXN 0 genome.wustl.edu 37 12 120662050 120662050 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 120662050 120662050 G - DEL PXN ENST00000267257 human ensembl 74_37 -1 known frame_shift_del c.144 p.V49fs 0.019 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 55 0 0 35 11 23.913 KNTC1 0 genome.wustl.edu 37 12 123052858 123052858 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123052858 123052858 T - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.1655 p.L554fs 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 200 0 0 177 35 16.5094 MPHOSPH9 0 genome.wustl.edu 37 12 123649959 123649959 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 123649959 123649959 T - DEL MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known frame_shift_del c.2201 p.K734fs 0.166 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 129 0 0 93 31 25 NCOR2 0 genome.wustl.edu 37 12 124862925 124862927 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 124862925 124862927 CTT - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known in_frame_del c.2025_2023 p.K675in_frame_del 1.000:1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 31 0 0 27 7 20.5882 PLEKHA8P1 0 genome.wustl.edu 37 12 45566878 45566878 + RNA DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 45566878 45566878 T - DEL PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 11 0 0 7 5 41.6667 KMT2D 0 genome.wustl.edu 37 12 49437711 49437713 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 49437711 49437713 CTT - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known in_frame_del c.5259_5257 p.K1753in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,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 KMT2D HGNC ENSG00000167548 150 0 0 78 21 21.2121 NCKAP5L 0 genome.wustl.edu 37 12 50189470 50189471 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 50189470 50189471 - C INS NCKAP5L ENST00000335999 human ensembl 74_37 -1 known frame_shift_ins c.2173_2172 p.I724fs 0.000:0.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 27 0 0 13 6 31.5789 PTPRB 0 genome.wustl.edu 37 12 70988367 70988367 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 12 70988367 70988367 C - DEL PTPRB ENST00000334414 human ensembl 74_37 -1 known frame_shift_del c.1396 p.V466fs 0.255 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 68 0 0 62 12 16.2162 BRCA2 0 genome.wustl.edu 37 13 32954023 32954023 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 32954023 32954023 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.9090 p.T3033fs 0.323 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 27 0 0 8 13 61.9048 HTR2A 0 genome.wustl.edu 37 13 47409099 47409099 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 47409099 47409099 T - DEL HTR2A ENST00000378688 human ensembl 74_37 -1 known frame_shift_del c.1289 p.K430fs 0.709 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 105 0 0 71 84 54.1935 RNASEH2B 0 genome.wustl.edu 37 13 51517523 51517523 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 13 51517523 51517523 A - DEL RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_del c.503 p.K170fs 0.977 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 63 0 0 56 16 22.2222 LGMN 0 genome.wustl.edu 37 14 93176150 93176151 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 14 93176150 93176151 - G INS LGMN ENST00000334869 human ensembl 74_37 -1 known frame_shift_ins c.887_886 p.L296fs 0.992:0.851 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 174 0 0 72 34 32.0755 TUBGCP5 0 genome.wustl.edu 37 15 22863109 22863109 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 22863109 22863109 A - DEL TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known frame_shift_del c.2130 p.D713fs 0.957 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 98 0 0 65 31 32.2917 SNHG14 0 genome.wustl.edu 37 15 25349805 25349805 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 25349805 25349805 A - DEL SNHG14 ENST00000516123 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 102 0 0 78 26 25 HERC1 0 genome.wustl.edu 37 15 63970177 63970179 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 63970177 63970179 CTC - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known in_frame_del c.6937_6935 p.G2312in_frame_del 1.000:1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 95 0 0 87 30 25.641 DENND4A 0 genome.wustl.edu 37 15 65957052 65957053 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 15 65957052 65957053 - T INS DENND4A ENST00000443035 human ensembl 74_37 -1 known frame_shift_ins c.5365_5364 p.Y1788fs 1.000:0.997 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 32 0 0 30 9 23.0769 C16orf62 0 genome.wustl.edu 37 16 19702725 19702727 + In_Frame_Del DEL AAC AAC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 19702725 19702727 AAC - DEL C16orf62 ENST00000438132 human ensembl 74_37 +1 known in_frame_del c.2845_2847 p.N950in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 53 0 0 32 10 23.8095 CHD9 0 genome.wustl.edu 37 16 53352154 53352155 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 53352154 53352155 - A INS CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_ins c.7615_7616 p.R2541fs 1.000:1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 51 0 0 27 16 37.2093 CDH1 0 genome.wustl.edu 37 16 68835613 68835613 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 68835613 68835613 T - DEL CDH1 ENST00000261769 human ensembl 74_37 +1 known frame_shift_del c.204 p.S70fs 0.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 196 0 0 76 34 30.9091 FBXO31 0 genome.wustl.edu 37 16 87368940 87368940 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 16 87368940 87368940 G - DEL FBXO31 ENST00000311635 human ensembl 74_37 -1 known frame_shift_del c.966 p.H322fs 0.994 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 126 0 0 38 31 44.9275 SLC47A2 0 genome.wustl.edu 37 17 19611794 19611796 + In_Frame_Del DEL CTC CTC - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 19611794 19611796 CTC - DEL SLC47A2 ENST00000325411 human ensembl 74_37 -1 known in_frame_del c.558_556 p.E186in_frame_del 0.000:0.000:0.003 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 325 0 0 232 54 18.8811 TP53I13 0 genome.wustl.edu 37 17 27899414 27899414 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 27899414 27899414 G - DEL TP53I13 ENST00000301057 human ensembl 74_37 +1 known frame_shift_del c.768 p.A258fs 0.001 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 110 0 0 95 29 23.3871 EFCAB13 0 genome.wustl.edu 37 17 45451978 45451978 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 45451978 45451978 A - DEL EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_del c.1018 p.S342fs 0.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 48 0 0 39 10 20.4082 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 103 0 0 77 22 22.2222 YBX2 0 genome.wustl.edu 37 17 7194412 7194414 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 17 7194412 7194414 CTT - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known in_frame_del c.459_457 p.K153in_frame_del 1.000:1.000:1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 175 0 0 125 38 23.3129 ROCK1 0 genome.wustl.edu 37 18 18533679 18533679 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 18533679 18533679 T - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.3921 p.K1307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 73 0 0 70 12 14.6341 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 14 0 0 10 5 33.3333 ARHGAP28 0 genome.wustl.edu 37 18 6837354 6837354 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 18 6837354 6837354 A - DEL ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known frame_shift_del c.484 p.K163fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 75 0 0 54 9 14.2857 PRKCSH 0 genome.wustl.edu 37 19 11558418 11558418 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 11558418 11558418 G - DEL PRKCSH ENST00000412601 human ensembl 74_37 +1 known frame_shift_del c.1014 p.E340fs 0.469 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 10 0 0 5 5 50 KMT2B 0 genome.wustl.edu 37 19 36214871 36214871 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 36214871 36214871 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3297 p.P1101fs 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 71 0 0 39 12 23.5294 AXL 0 genome.wustl.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 41743932 41743933 - C INS AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_ins c.867_868 p.H291fs 0.982:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 200 0 0 121 35 22.4359 SPHK2 0 genome.wustl.edu 37 19 49129311 49129311 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 49129311 49129311 C - DEL SPHK2 ENST00000443164 human ensembl 74_37 +1 known frame_shift_del c.389 p.T132fs 0.997 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 102 0 0 69 18 20.6897 SIGLEC5 0 genome.wustl.edu 37 19 52131257 52131257 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 52131257 52131257 G - DEL SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known frame_shift_del c.827 p.P276fs 0.028 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 178 0 0 107 31 22.4638 ZNF470 0 genome.wustl.edu 37 19 57088424 57088424 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 19 57088424 57088424 A - DEL ZNF470 ENST00000330619 human ensembl 74_37 +1 known frame_shift_del c.627 p.T211fs 0.023 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 ZNF470 HGNC ENSG00000197016 51 0 0 45 15 25 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 89 0 0 60 59 49.5798 FIGN 0 genome.wustl.edu 37 2 164468132 164468132 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 164468132 164468132 T - DEL FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_del c.210 p.K70fs 0.998 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 159 0 0 169 22 11.5183 XIRP2 0 genome.wustl.edu 37 2 168099432 168099432 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 168099432 168099432 A - DEL XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_del c.1530 p.N512fs 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 36 0 0 26 8 23.5294 SSB 0 genome.wustl.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 170665008 170665008 A - DEL SSB ENST00000260956 human ensembl 74_37 +1 known frame_shift_del c.571 p.N193fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 70 0 0 39 16 29.0909 GLS 0 genome.wustl.edu 37 2 191785880 191785880 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 191785880 191785880 T - DEL GLS ENST00000320717 human ensembl 74_37 +1 known frame_shift_del c.1081 p.L362fs 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 84 0 0 70 28 28.5714 ANKRD44 0 genome.wustl.edu 37 2 197860118 197860118 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 197860118 197860118 T - DEL ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_del c.2741 p.N914fs 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 37 0 0 24 8 25 BMPR2 0 genome.wustl.edu 37 2 203420622 203420623 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 203420622 203420623 - C INS BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_ins c.2234_2235 p.K747fs 1.000:0.644 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 91 0 0 75 29 27.8846 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 64 0 0 46 20 30.303 SOS1 0 genome.wustl.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 39222520 39222520 T - DEL SOS1 ENST00000402219 human ensembl 74_37 -1 known frame_shift_del c.3090 p.K1030fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 85 0 0 98 12 10.9091 STON1 0 genome.wustl.edu 37 2 48822381 48822381 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 48822381 48822381 G - DEL STON1 ENST00000309835 human ensembl 74_37 +1 known frame_shift_del c.2148 p.K717fs 1.000 pirsf_Stonin pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1 HGNC ENSG00000243244 53 0 0 48 9 15.7895 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 99 0 0 79 23 22.549 SPAG4 0 genome.wustl.edu 37 20 34207645 34207646 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 34207645 34207646 - C INS SPAG4 ENST00000374273 human ensembl 74_37 +1 known frame_shift_ins c.1054_1055 p.R354fs 0.996:0.997 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 88 0 0 55 17 23.6111 FAM110A 0 genome.wustl.edu 37 20 826060 826060 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 20 826060 826060 T - DEL FAM110A ENST00000246100 human ensembl 74_37 +1 known frame_shift_del c.613 p.F206fs 1.000 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 65 0 0 34 10 22.7273 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 20130522 20130522 C - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1369 p.T459fs 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 49 0 0 48 16 25 P2RX6 0 genome.wustl.edu 37 22 21377450 21377450 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 21377450 21377450 A - DEL P2RX6 ENST00000413302 human ensembl 74_37 +1 known frame_shift_del c.601 p.N202fs 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 179 0 0 95 38 28.5714 MKL1 0 genome.wustl.edu 37 22 40816542 40816542 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 40816542 40816542 G - DEL MKL1 ENST00000355630 human ensembl 74_37 -1 known frame_shift_del c.920 p.P307fs 0.025 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 153 0 0 137 35 20.3488 PANX2 0 genome.wustl.edu 37 22 50617590 50617590 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 22 50617590 50617590 G - DEL PANX2 ENST00000395842 human ensembl 74_37 +1 known frame_shift_del c.1918 p.G641fs 0.727 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 65 0 0 40 13 24.5283 ZBTB38 0 genome.wustl.edu 37 3 141164024 141164024 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 141164024 141164024 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.2797 p.M935fs 0.570 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 63 0 0 42 17 28.8136 P2RY13 0 genome.wustl.edu 37 3 151046375 151046376 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 151046375 151046376 - T INS P2RY13 ENST00000325602 human ensembl 74_37 -1 known frame_shift_ins c.469_468 p.P156fs 0.002:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 51 0 0 66 15 18.5185 LIPH 0 genome.wustl.edu 37 3 185237031 185237032 + Frame_Shift_Del DEL CT CT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 185237031 185237032 CT - DEL LIPH ENST00000296252 human ensembl 74_37 -1 known frame_shift_del c.785_784 p.S262fs 0.031:0.003 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 161 0 0 116 59 33.7143 TRANK1 0 genome.wustl.edu 37 3 36896820 36896820 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 36896820 36896820 C - DEL TRANK1 ENST00000429976 human ensembl 74_37 -1 known frame_shift_del c.4261 p.D1421fs 1.000 pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 193 0 0 69 47 40.5172 KLHDC8B 0 genome.wustl.edu 37 3 49210244 49210244 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 3 49210244 49210244 C - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.42 p.M17fs 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 61 0 0 28 19 40.4255 C4orf21 0 genome.wustl.edu 37 4 113539372 113539373 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 113539372 113539373 AG - DEL C4orf21 ENST00000505019 human ensembl 74_37 -1 known frame_shift_del c.1826_1825 p.L609fs 0.009:0.013 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 115 0 0 67 24 26.3736 PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 79 0 0 42 22 34.375 ZNF827 0 genome.wustl.edu 37 4 146686300 146686300 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 4 146686300 146686300 A - DEL ZNF827 ENST00000508784 human ensembl 74_37 -1 known frame_shift_del c.3070 p.C1024fs 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 57 0 0 18 11 37.931 CENPK 0 genome.wustl.edu 37 5 64847400 64847400 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 64847400 64847400 T - DEL CENPK ENST00000242872 human ensembl 74_37 -1 known frame_shift_del c.232 p.T78fs 1.000 pfam_Centromere_CenpK,superfamily_Prefoldin pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 71 0 0 37 16 30.1887 ARHGEF28 0 genome.wustl.edu 37 5 73128182 73128182 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 73128182 73128182 A - DEL ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known frame_shift_del c.1044 p.K350fs 0.997 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 28 0 0 8 3 27.2727 RASGRF2 0 genome.wustl.edu 37 5 80513174 80513175 + Frame_Shift_Ins INS - - T TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 80513174 80513175 - T INS RASGRF2 ENST00000265080 human ensembl 74_37 +1 known frame_shift_ins c.3436_3435 p.C1147fs 1.000:0.988 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 123 0 0 106 9 7.82609 SSBP2 0 genome.wustl.edu 37 5 80932421 80932421 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 80932421 80932421 T - DEL SSBP2 ENST00000320672 human ensembl 74_37 -1 known frame_shift_del c.152 p.N51fs 1.000 prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 75 0 0 42 7 14.2857 CHD1 0 genome.wustl.edu 37 5 98235188 98235188 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 5 98235188 98235188 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.1081 p.R361fs 0.999 superfamily_Chromodomain-like,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 46 0 0 41 12 22.6415 LATS1 0 genome.wustl.edu 37 6 150004169 150004172 + Frame_Shift_Del DEL CAAA CAAA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 150004169 150004172 CAAA - DEL LATS1 ENST00000392273 human ensembl 74_37 -1 known frame_shift_del c.2056_2053 p.F685fs 0.000:0.026:0.007:0.011 NULL pfam_UBA/Ts_N,superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors LATS1 HGNC ENSG00000131023 11 0 0 6 6 50 IGF2R 0 genome.wustl.edu 37 6 160448255 160448255 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 160448255 160448255 C - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.685 p.G231fs 0.998 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 45 0 0 23 14 37.8378 ATXN1 0 genome.wustl.edu 37 6 16327822 16327823 + Frame_Shift_Ins INS - - G TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 16327822 16327823 - G INS ATXN1 ENST00000244769 human ensembl 74_37 -1 known frame_shift_ins c.720_719 p.P241fs 0.916:0.954 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 17 0 0 9 7 43.75 DLL1 0 genome.wustl.edu 37 6 170594673 170594674 + Frame_Shift_Ins INS - - C TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 170594673 170594674 - C INS DLL1 ENST00000366756 human ensembl 74_37 -1 known frame_shift_ins c.846_845 p.L283fs 0.973:1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 112 0 0 34 22 39.2857 HIST1H4D 0 genome.wustl.edu 37 6 26189010 26189011 + Frame_Shift_Del DEL AA AA - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 26189010 26189011 AA - DEL HIST1H4D ENST00000340756 human ensembl 74_37 -1 known frame_shift_del c.295_294 p.Y99fs 1.000:0.864 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4D HGNC ENSG00000188987 109 0 0 73 14 16.092 DDR1 0 genome.wustl.edu 37 6 30864571 30864571 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 30864571 30864571 C - DEL DDR1 ENST00000376575 human ensembl 74_37 +1 known frame_shift_del c.1798 p.R602fs 0.997 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 162 0 0 48 71 59.6639 RING1 0 genome.wustl.edu 37 6 33178990 33178990 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 33178990 33178990 G - DEL RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_del c.511 p.E173fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 227 0 0 149 52 25.8706 PM20D2 0 genome.wustl.edu 37 6 89864474 89864474 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 6 89864474 89864474 A - DEL PM20D2 ENST00000275072 human ensembl 74_37 +1 known frame_shift_del c.765 p.N257fs 1.000 pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 111 0 0 96 20 17.2414 MYL10 0 genome.wustl.edu 37 7 101256825 101256825 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 101256825 101256825 G - DEL MYL10 ENST00000223167 human ensembl 74_37 -1 known frame_shift_del c.611 p.P204fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 142 0 0 110 52 32.0988 GIMAP6 0 genome.wustl.edu 37 7 150325379 150325379 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 150325379 150325379 G - DEL GIMAP6 ENST00000328902 human ensembl 74_37 -1 known frame_shift_del c.307 p.Q103fs 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 139 0 0 105 27 20.4545 DNAH11 0 genome.wustl.edu 37 7 21934307 21934308 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 21934307 21934308 - A INS DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_ins c.12838_12839 p.N4282fs 0.848:0.785 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 75 0 0 80 29 26.6055 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 48 0 0 25 8 24.2424 CYP3A4 0 genome.wustl.edu 37 7 99359780 99359780 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 7 99359780 99359780 T - DEL CYP3A4 ENST00000336411 human ensembl 74_37 -1 known frame_shift_del c.1137 p.D380fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 105 0 0 111 33 22.9167 DCSTAMP 0 genome.wustl.edu 37 8 105361203 105361204 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 105361203 105361204 - A INS DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_ins c.423_424 p.Y143fs 0.281:0.026 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 97 0 0 77 20 20.6186 LRP12 0 genome.wustl.edu 37 8 105502938 105502938 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 105502938 105502938 T - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.2486 p.N829fs 0.057 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 107 0 0 65 23 26.1364 TG 0 genome.wustl.edu 37 8 134145764 134145764 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 134145764 134145764 C - DEL TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_del c.8048 p.W2685fs 0.002 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 151 0 0 109 23 17.4242 KCTD9 0 genome.wustl.edu 37 8 25293987 25293989 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 25293987 25293989 CTT - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known in_frame_del c.514_512 p.E171in_frame_del 1.000:1.000:1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 50 0 0 15 4 21.0526 CSMD1 0 genome.wustl.edu 37 8 3253873 3253874 + Frame_Shift_Ins INS - - A TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 3253873 3253874 - A INS CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_ins c.2439_2438 p.L813fs 0.974:0.990 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 26 0 0 9 3 25 GPR124 0 genome.wustl.edu 37 8 37690604 37690604 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 37690604 37690604 G - DEL GPR124 ENST00000412232 human ensembl 74_37 +1 known frame_shift_del c.1174 p.G393fs 0.999 pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 210 0 0 159 29 15.4255 SNTG1 0 genome.wustl.edu 37 8 51705315 51705315 + Frame_Shift_Del DEL T T - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 8 51705315 51705315 T - DEL SNTG1 ENST00000518864 human ensembl 74_37 +1 known frame_shift_del c.1480 p.L495fs 0.957 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 129 0 0 95 37 28.0303 ABCA1 0 genome.wustl.edu 37 9 107568537 107568537 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 107568537 107568537 C - DEL ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_del c.4449 p.L1484fs 0.665 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 97 0 0 92 36 28.125 NOL6 0 genome.wustl.edu 37 9 33467733 33467733 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 33467733 33467733 C - DEL NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_del c.1558 p.A520fs 0.077 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 84 0 0 61 29 32.2222 FAM219A 0 genome.wustl.edu 37 9 34401028 34401028 + Frame_Shift_Del DEL G G - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34401028 34401028 G - DEL FAM219A ENST00000445726 human ensembl 74_37 -1 known frame_shift_del c.492 p.K165fs 0.999 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 91 0 0 65 25 27.7778 DNAI1 0 genome.wustl.edu 37 9 34512145 34512147 + In_Frame_Del DEL CTT CTT - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 34512145 34512147 CTT - DEL DNAI1 ENST00000242317 human ensembl 74_37 +1 known in_frame_del c.1350_1352 p.F452in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 188 0 0 149 38 20.3209 RMI1 0 genome.wustl.edu 37 9 86616512 86616512 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 9 86616512 86616512 A - DEL RMI1 ENST00000325875 human ensembl 74_37 +1 known frame_shift_del c.611 p.V206fs 1.000 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 101 0 0 92 36 28.125 BCORL1 0 genome.wustl.edu 37 X 129148971 129148971 + Frame_Shift_Del DEL C C - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 129148971 129148971 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2223 p.R743fs 0.984 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 51 0 0 26 23 46.9388 GPR64 0 genome.wustl.edu 37 X 19017206 19017206 + Frame_Shift_Del DEL A A - TCGA-B7-A5TI-01A-11D-A31L-08 TCGA-B7-A5TI-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8af3c417-864e-4e0d-b2c3-3735ea168dc1 557dad51-bef3-4220-b239-8833e06cf983 X 19017206 19017206 A - DEL GPR64 ENST00000379869 human ensembl 74_37 -1 known frame_shift_del c.2522 p.L841fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 148 0 0 56 83 59.7122