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 NTNG1 0 genome.wustl.edu 37 1 107867165 107867165 + Nonsense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 107867165 107867165 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known nonsense c.508 p.R170* 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 76 0 0 48 13 21.3115 DRAXIN 0 genome.wustl.edu 37 1 11766500 11766500 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 11766500 11766500 C T SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known missense c.185 p.P62L 0.801 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 43 0 0 16 24 60 PHGDH 0 genome.wustl.edu 37 1 120263849 120263849 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 120263849 120263849 C T SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known silent c.195 p.N65 0.042 pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 142 0 0 122 33 21.2903 NBPF10 0 genome.wustl.edu 37 1 145304580 145304580 + Missense_Mutation SNP G G C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 145304580 145304580 G C SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1513 p.D505H 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 391 0 0 336 41 10.8753 PGLYRP3 0 genome.wustl.edu 37 1 153277444 153277444 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 153277444 153277444 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.355 p.A119T 0.927 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 56 0 0 46 14 23.3333 OR10K2 0 genome.wustl.edu 37 1 158390292 158390292 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 158390292 158390292 C T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.365 p.R122H 1.000 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 OR10K2 HGNC ENSG00000180708 124 0 0 92 33 26.4 SPTA1 0 genome.wustl.edu 37 1 158624513 158624513 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 158624513 158624513 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2924 p.G975E 0.757 superfamily_SH3_domain,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 61 0 0 46 22 32.3529 ARHGEF10L 0 genome.wustl.edu 37 1 17914087 17914087 + Missense_Mutation SNP C C G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 17914087 17914087 C G SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.170 p.P57R 0.021 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 295 0 0 117 163 58.2143 ZNF648 0 genome.wustl.edu 37 1 182025649 182025649 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 182025649 182025649 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.1497 p.S499 0.016 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 31 0 0 20 8 28.5714 IARS2 0 genome.wustl.edu 37 1 220320847 220320847 + Missense_Mutation SNP G G T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 220320847 220320847 G T SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.2909 p.R970L 1.000 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 56 0 0 36 18 33.3333 TP53BP2 0 genome.wustl.edu 37 1 223990025 223990025 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 223990025 223990025 G A SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1018 p.P340S 0.070 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 73 0 0 65 34 34.3434 WDR64 0 genome.wustl.edu 37 1 241959601 241959601 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 241959601 241959601 G A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.3091 p.V1031I 0.035 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 48 0 0 42 21 33.3333 OR2T12 0 genome.wustl.edu 37 1 248458154 248458154 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 248458154 248458154 C A SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.727 p.V243L 0.087 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 OR2T12 HGNC ENSG00000177201 100 0 0 98 27 21.6 OR2T27 0 genome.wustl.edu 37 1 248813343 248813343 + Silent SNP A A G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 248813343 248813343 A G SNP OR2T27 ENST00000344889 human ensembl 74_37 -1 known silent c.843 p.L281 0.001 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 OR2T27 HGNC ENSG00000187701 36 0 0 33 4 10.8108 MATN1 0 genome.wustl.edu 37 1 31188062 31188062 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 31188062 31188062 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known silent c.1302 p.T434 0.018 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 117 0 0 95 25 20.8333 MTPAP 0 genome.wustl.edu 37 10 30611466 30611466 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 10 30611466 30611466 C T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.1463 p.R488Q 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 68 0 0 42 13 23.6364 ADO 0 genome.wustl.edu 37 10 64565194 64565194 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 10 64565194 64565194 C T SNP ADO ENST00000373783 human ensembl 74_37 +1 known silent c.375 p.Y125 1.000 pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors ADO HGNC ENSG00000181915 13 0 0 6 6 50 GRAMD1B 0 genome.wustl.edu 37 11 123481039 123481039 + Nonsense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 123481039 123481039 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known nonsense c.1483 p.R495* 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 118 0 0 93 25 21.1864 ADAMTS15 0 genome.wustl.edu 37 11 130341220 130341220 + Missense_Mutation SNP G G C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 130341220 130341220 G C SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.2020 p.V674L 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 76 0 0 57 17 22.973 OPCML 0 genome.wustl.edu 37 11 133402180 133402180 + Missense_Mutation SNP T T A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 133402180 133402180 T A SNP OPCML ENST00000524381 human ensembl 74_37 -1 known missense c.40 p.T14S 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 41 0 0 19 11 36.6667 KIAA1549L 0 genome.wustl.edu 37 11 33689480 33689480 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 33689480 33689480 C A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.5348 p.S1783Y 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 55 0 0 41 17 29.3103 CELF1 0 genome.wustl.edu 37 11 47498889 47498889 + Silent SNP G G C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 47498889 47498889 G C SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known silent c.930 p.L310 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 81 0 0 104 30 22.3881 OR5T1 0 genome.wustl.edu 37 11 56043465 56043465 + Silent SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 56043465 56043465 T C SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known silent c.351 p.C117 0.000 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 OR5T1 HGNC ENSG00000181698 165 0 0 133 53 28.4946 SERPING1 0 genome.wustl.edu 37 11 57381834 57381834 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 57381834 57381834 G A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.1283 p.C428Y 0.993 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 134 0 0 73 30 29.1262 INTS5 0 genome.wustl.edu 37 11 62416322 62416322 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 62416322 62416322 C T SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.1230 p.L410 0.997 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 75 0 0 74 13 14.9425 DRAP1 0 genome.wustl.edu 37 11 65688066 65688066 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 65688066 65688066 G A SNP DRAP1 ENST00000312515 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors DRAP1 HGNC ENSG00000175550 24 0 0 11 6 35.2941 PDE2A 0 genome.wustl.edu 37 11 72295692 72295692 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 11 72295692 72295692 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1440 p.D480 0.996 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 59 0 0 51 14 21.5385 GRIN2B 0 genome.wustl.edu 37 12 13716623 13716623 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 12 13716623 13716623 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.3549 p.T1183 0.424 pfam_NMDAR2_C pfam_NMDAR2_C,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 GRIN2B HGNC ENSG00000273079 140 0 0 107 45 29.6053 FAR2 0 genome.wustl.edu 37 12 29423539 29423539 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 12 29423539 29423539 C A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.157 p.Q53K 0.975 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 49 0 0 34 13 27.6596 TNFRSF1A 0 genome.wustl.edu 37 12 6442257 6442257 + Missense_Mutation SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 12 6442257 6442257 T C SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.529 p.N177D 0.000 smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 56 0 0 38 10 20.8333 CD163L1 0 genome.wustl.edu 37 12 7585200 7585200 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 12 7585200 7585200 C A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.578 p.C193F 0.982 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 61 0 0 47 19 28.7879 E2F7 0 genome.wustl.edu 37 12 77417809 77417809 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 12 77417809 77417809 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.2722 p.G908S 0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 120 0 0 132 43 24.5714 TFDP1 0 genome.wustl.edu 37 13 114265370 114265370 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 13 114265370 114265370 C T SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known silent c.72 p.P24 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 91 0 0 52 20 27.7778 RFC3 0 genome.wustl.edu 37 13 34409298 34409298 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 13 34409298 34409298 C T SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known missense c.823 p.R275C 1.000 superfamily_DNA_pol3_clamp-load_cplx_C pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 49 0 0 24 13 35.1351 STOML3 0 genome.wustl.edu 37 13 39544507 39544507 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 13 39544507 39544507 C T SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known missense c.331 p.V111I 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 100 0 0 74 27 26.7327 PCDH8 0 genome.wustl.edu 37 13 53421999 53421999 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 13 53421999 53421999 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.573 p.G191 1.000 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 PCDH8 HGNC ENSG00000136099 10 0 0 9 3 25 PCDH9 0 genome.wustl.edu 37 13 67799808 67799808 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 13 67799808 67799808 G A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2765 p.P922L 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 130 0 0 100 22 18.0328 SLC24A4 0 genome.wustl.edu 37 14 92908491 92908491 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 14 92908491 92908491 C T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.452 p.T151M 0.996 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 69 0 0 49 16 24.6154 FBN1 0 genome.wustl.edu 37 15 48782211 48782211 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 15 48782211 48782211 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.2919 p.G973 0.990 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 63 0 0 60 19 24.0506 SLCO3A1 0 genome.wustl.edu 37 15 92459375 92459375 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 15 92459375 92459375 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.333 p.C111 0.997 pfam_OA_transporter,pfam_MFS,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 46 0 0 33 18 35.2941 ENSG00000261711 0 genome.wustl.edu 37 16 34713701 34713701 + RNA SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 16 34713701 34713701 C A SNP ENSG00000261711 ENST00000564452 human ensembl 74_37 -1 known rna NULL NULL 0.063 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 22 0 0 12 4 25 KCNG4 0 genome.wustl.edu 37 16 84256365 84256365 + Nonsense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 16 84256365 84256365 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known nonsense c.1018 p.R340* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 34 0 0 37 7 15.9091 USP22 0 genome.wustl.edu 37 17 20911279 20911279 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 17 20911279 20911279 G A SNP USP22 ENST00000261497 human ensembl 74_37 -1 known silent c.1134 p.S378 0.995 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 89 0 0 50 22 30.5556 DHX58 0 genome.wustl.edu 37 17 40263479 40263479 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 17 40263479 40263479 G A SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.205 p.R69C 0.013 pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 44 0 0 42 15 26.3158 RNF157 0 genome.wustl.edu 37 17 74169807 74169807 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 17 74169807 74169807 C T SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.272 p.R91Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 11 0 0 11 5 31.25 CCDC178 0 genome.wustl.edu 37 18 30672724 30672724 + Splice_Site SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 18 30672724 30672724 C A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known splice_site c.2388+1 e19+1 1.000 - - - no_errors CCDC178 HGNC ENSG00000166960 60 0 0 25 5 16.6667 LAMA1 0 genome.wustl.edu 37 18 6975032 6975032 + Missense_Mutation SNP C C G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 18 6975032 6975032 C G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6493 p.D2165H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 33 0 0 13 12 48 MAST3 0 genome.wustl.edu 37 19 18234441 18234441 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 19 18234441 18234441 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.522 p.H174 0.245 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 11 0 0 4 9 69.2308 RYR1 0 genome.wustl.edu 37 19 38985210 38985210 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 19 38985210 38985210 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.6493 p.L2165 0.998 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,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 92 0 0 75 27 26.4706 GALP 0 genome.wustl.edu 37 19 56693573 56693573 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 19 56693573 56693573 G A SNP GALP ENST00000357330 human ensembl 74_37 +1 known missense c.169 p.G57R 0.000 NULL pfam_Galanin - no_errors GALP HGNC ENSG00000197487 82 0 0 73 17 18.8889 IWS1 0 genome.wustl.edu 37 2 128263154 128263154 + Missense_Mutation SNP C C G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 128263154 128263154 C G SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.325 p.E109Q 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 149 0 0 113 51 31.0976 CSRNP3 0 genome.wustl.edu 37 2 166535217 166535217 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 166535217 166535217 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.712 p.R238C 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 55 0 0 43 9 17.3077 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 20 0 0 29 2 6.45161 FSIP2 0 genome.wustl.edu 37 2 186673370 186673370 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 186673370 186673370 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19604 p.T6535K 0.005 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 27 0 0 22 7 24.1379 KIF3C 0 genome.wustl.edu 37 2 26203456 26203456 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 26203456 26203456 G A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1331 p.P444L 0.757 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 168 0 0 119 34 22.2222 OTOF 0 genome.wustl.edu 37 2 26781408 26781408 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 2 26781408 26781408 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.32 p.S11L 0.996 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 121 0 0 112 38 25.3333 TGM3 0 genome.wustl.edu 37 20 2308983 2308983 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 20 2308983 2308983 C T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.1305 p.D435 0.998 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 61 0 0 71 15 17.4419 CLDN17 0 genome.wustl.edu 37 21 31538677 31538677 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 21 31538677 31538677 C T SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.259 p.A87T 0.998 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 114 0 0 89 33 27.0492 MICAL3 0 genome.wustl.edu 37 22 18355614 18355614 + Missense_Mutation SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 22 18355614 18355614 T C SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2512 p.I838V 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 42 0 0 23 8 25.8065 TF 0 genome.wustl.edu 37 3 133467336 133467336 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 133467336 133467336 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.124 p.R42C 0.001 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 67 0 0 45 15 25 SI 0 genome.wustl.edu 37 3 164716350 164716350 + Missense_Mutation SNP G G T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 164716350 164716350 G T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4518 p.D1506E 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 87 0 0 72 23 24.2105 PIK3CA 0 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.353 p.G118D 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 61 0 0 36 12 25 NEK10 0 genome.wustl.edu 37 3 27184958 27184958 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 27184958 27184958 C A SNP NEK10 ENST00000429845 human ensembl 74_37 -1 novel missense c.3018 p.Q1006H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 32 0 0 15 9 37.5 CTNNB1 0 genome.wustl.edu 37 3 41266148 41266148 + Missense_Mutation SNP A A C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 41266148 41266148 A C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.145 p.K49Q 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 42 0 0 37 13 26 CTNNB1 0 genome.wustl.edu 37 3 41266149 41266149 + Missense_Mutation SNP A A T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 41266149 41266149 A T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.146 p.K49I 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 41 0 0 37 17 31.4815 CTNNB1 0 genome.wustl.edu 37 3 41266599 41266599 + Silent SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 41266599 41266599 G A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known silent c.396 p.L132 1.000 prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 85 0 0 53 509 90.5694 CTNNB1 0 genome.wustl.edu 37 3 41266671 41266671 + Silent SNP G G C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 41266671 41266671 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known silent c.468 p.L156 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 62 0 0 45 459 91.0714 RNF123 0 genome.wustl.edu 37 3 49739039 49739039 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 49739039 49739039 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1393 p.E465K 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 53 0 0 33 17 34 CACNA1D 0 genome.wustl.edu 37 3 53842763 53842763 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 53842763 53842763 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.5897 p.R1966H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 108 0 0 87 39 30.9524 CRYBG3 0 genome.wustl.edu 37 3 97655739 97655739 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 97655739 97655739 G A SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.2648 p.R883H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 40 0 0 28 12 30 PCDH10 0 genome.wustl.edu 37 4 134073082 134073082 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 4 134073082 134073082 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1787 p.P596L 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 67 0 0 62 28 31.1111 EVC2 0 genome.wustl.edu 37 4 5586352 5586352 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 4 5586352 5586352 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3055 p.R1019W 0.998 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 29 0 0 23 12 34.2857 PARM1 0 genome.wustl.edu 37 4 75971375 75971375 + Missense_Mutation SNP A A T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 4 75971375 75971375 A T SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.851 p.H284L 1.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 34 0 0 28 15 34.8837 WDFY3 0 genome.wustl.edu 37 4 85660241 85660241 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 4 85660241 85660241 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.6496 p.A2166T 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 82 0 0 59 16 21.3333 TRIO 0 genome.wustl.edu 37 5 14291165 14291165 + Missense_Mutation SNP A A T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 5 14291165 14291165 A T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.881 p.K294I 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 130 0 0 82 32 28.0702 FAT2 0 genome.wustl.edu 37 5 150901482 150901482 + Missense_Mutation SNP G G C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 5 150901482 150901482 G C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10672 p.R3558G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 83 0 0 54 15 21.7391 TRIM41 0 genome.wustl.edu 37 5 180659794 180659794 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 5 180659794 180659794 G A SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.1045 p.A349T 0.047 pfam_DUF3631 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 22 0 0 16 4 20 CMYA5 0 genome.wustl.edu 37 5 79041267 79041267 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 5 79041267 79041267 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.10957 p.V3653I 0.155 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 78 0 0 64 32 33.3333 CAST 0 genome.wustl.edu 37 5 96066545 96066545 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 5 96066545 96066545 C T SNP CAST ENST00000395813 human ensembl 74_37 +1 known missense c.611 p.S204F 0.001 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 64 0 0 52 19 26.7606 THBS2 0 genome.wustl.edu 37 6 169648658 169648658 + Missense_Mutation SNP G G T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 6 169648658 169648658 G T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.463 p.Q155K 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 106 0 0 88 25 22.1239 NOTCH4 0 genome.wustl.edu 37 6 32168694 32168694 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 6 32168694 32168694 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4229 p.R1410H 1.000 pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_4 pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,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,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 45 0 0 35 14 28.5714 EPHB4 0 genome.wustl.edu 37 7 100403165 100403165 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 7 100403165 100403165 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2636 p.R879Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 144 0 0 161 49 23.3333 ABCB5 0 genome.wustl.edu 37 7 20668315 20668315 + Missense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 7 20668315 20668315 G A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.113 p.R38H 1.000 superfamily_ABC1_TM_dom 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 ABCB5 HGNC ENSG00000004846 14 0 0 17 5 22.7273 NCALD 0 genome.wustl.edu 37 8 102705079 102705079 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 102705079 102705079 C T SNP NCALD ENST00000311028 human ensembl 74_37 -1 known missense c.424 p.E142K 1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 64 0 0 76 11 12.6437 PRSS55 0 genome.wustl.edu 37 8 10388948 10388948 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 10388948 10388948 C T SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.491 p.S164L 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A 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 182 0 0 176 35 16.5877 PHF20L1 0 genome.wustl.edu 37 8 133811379 133811379 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 133811379 133811379 C T SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative silent c.468 p.I156 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 14 0 0 16 7 30.4348 ZFAT 0 genome.wustl.edu 37 8 135490891 135490891 + Missense_Mutation SNP A A T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 135490891 135490891 A T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3566 p.L1189H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 17 0 0 17 2 10.5263 ARHGEF10 0 genome.wustl.edu 37 8 1900886 1900886 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 1900886 1900886 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.3488 p.S1163L 0.996 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 85 0 0 106 23 17.8295 CSMD1 0 genome.wustl.edu 37 8 2820838 2820838 + Silent SNP A A G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 2820838 2820838 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.9363 p.S3121 0.961 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 206 0 0 258 66 20.3704 BHLHE22 0 genome.wustl.edu 37 8 65494237 65494237 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 8 65494237 65494237 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.890 p.A297V 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 37 0 0 53 9 14.5161 ADAMTS13 0 genome.wustl.edu 37 9 136310894 136310894 + Silent SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 9 136310894 136310894 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known silent c.2685 p.H895 0.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 75 0 0 97 18 15.6522 CDKN2A 0 genome.wustl.edu 37 9 21974536 21974536 + Silent SNP A A G TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 9 21974536 21974536 A G SNP CDKN2A ENST00000380151 human ensembl 74_37 -1 known silent c.291 p.C97 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 278 0 0 241 94 28.0597 TAF1L 0 genome.wustl.edu 37 9 32633111 32633111 + Nonsense_Mutation SNP G G A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 9 32633111 32633111 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known nonsense c.2467 p.R823* 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 93 0 0 83 26 23.8532 MT-CO1 0 genome.wustl.edu 37 MT 6070 6070 + Missense_Mutation SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 MT 6070 6070 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.167 p.V56A NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 151 0 0 4 31 88.5714 MT-CO2 0 genome.wustl.edu 37 MT 8203 8203 + Missense_Mutation SNP C C A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 MT 8203 8203 C A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.618 p.F206L NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 173 0 0 38 8 17.3913 WDR44 0 genome.wustl.edu 37 X 117575479 117575479 + Missense_Mutation SNP T T C TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 X 117575479 117575479 T C SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.2123 p.V708A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 48 0 0 24 24 50 FIGF 0 genome.wustl.edu 37 X 15402066 15402066 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 X 15402066 15402066 C T SNP FIGF ENST00000297904 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors FIGF HGNC ENSG00000165197 30 0 0 9 13 59.0909 SHROOM4 0 genome.wustl.edu 37 X 50350385 50350385 + Missense_Mutation SNP C C T TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 X 50350385 50350385 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.3757 p.A1253T 0.073 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 24 0 0 11 9 45 ARID1A 0 genome.wustl.edu 37 1 27101189 27101196 + Frame_Shift_Del DEL GTTGCTCA GTTGCTCA - TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 GTTGCTCA GTTGCTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 1 27101189 27101196 GTTGCTCA - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4471_4478 p.V1491fs 1.000:1.000:0.998:0.999:1.000:1.000:1.000:1.000 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 156 0 0 91 63 40.9091 KRTAP4-1 0 genome.wustl.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 17 39340796 39340852 CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - DEL KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known in_frame_del c.311_255 p.CQTTCHPSCGMSSCCRPLC89in_frame_del 0.000:0.000:0.001:0.016:0.034:0.145:0.511:0.542:0.519:0.518:0.964:0.947:0.884:0.747:0.547:0.070:0.001:0.000:0.031:0.014:0.023:0.765:0.795:0.809:0.721:0.109:0.132:0.170:0.447:0.477:0.451:0.448:0.863:1.000:1.000:0.978:0.654:0.912:0.977:0.982:0.038:0.317:0.493:0.653:0.846:0.968:0.984:0.985:0.890:0.887:0.884:0.025:0.000:0.002:0.861:0.864:0.845 NULL pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 37 0 0 458 68 12.9278 MYO9B 0 genome.wustl.edu 37 19 17294679 17294680 + Splice_Site INS - - A TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 19 17294679 17294680 - A INS MYO9B ENST00000594824 human ensembl 74_37 +1 known splice_site_ins c.2373+2_2373+1 e15+2 1.000:1.000 - - - no_errors MYO9B HGNC ENSG00000099331 15 0 0 7 3 30 GATA2 0 genome.wustl.edu 37 3 128200036 128200038 + In_Frame_Del DEL CTC CTC - TCGA-D7-A4YX-01A-11D-A25D-08 TCGA-D7-A4YX-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a4c838df-6ac4-455a-8096-8ec680064374 d03406dc-fafb-4b9d-b8f0-b3d683e67273 3 128200036 128200038 CTC - DEL GATA2 ENST00000341105 human ensembl 74_37 -1 known in_frame_del c.1269_1267 p.E423in_frame_del 1.000:1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 103 0 0 73 26 26.2626