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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val KIAA2022 0 genome.wustl.edu 37 X 73960473 73960473 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 X 73960473 73960473 C T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3919 p.D1307N 1 NULL NULL 0 no_errors 0 0 0 87 0 0 66 14 17.5 183 0 0.00 122 33 21.29 KIAA2022 0 genome.wustl.edu 37 X 73961545 73961545 + Silent SNP C C A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 X 73961545 73961545 C A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known silent c.2847 p.L949 0.658 NULL NULL 0 no_errors 0 0 0 130 0 0 73 36 33.03 281 0 0.00 187 76 28.90 DCAF12L2 0 genome.wustl.edu 37 X 125299320 125299320 + Missense_Mutation SNP C C A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 X 125299320 125299320 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.588 p.W196C 1 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 0 no_errors 0 0 0 134 0 0 87 54 38.3 10 0 0.00 4 4 44.44 H6PD 0 genome.wustl.edu 37 1 9324428 9324428 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 1 9324428 9324428 C T SNP H6PD ENST00000377403 human ensembl 74_37 1 known missense c.1876 p.L626F 0.389 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB 0 no_errors 0 0 0 21 0 0 16 7 30.43 77 0 0.00 50 12 19.35 CSMD2 0 genome.wustl.edu 37 1 34164385 34164385 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 1 34164385 34164385 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3893 p.R1298Q 1 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 0 no_errors 0 0 0 37 0 0 35 17 32.69 76 0 0.00 75 23 23.47 TTN 0 genome.wustl.edu 37 2 179417841 179417841 + Missense_Mutation SNP T T G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 2 179417841 179417841 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82082 p.K27361T 1 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 0 no_errors 0 0 0 50 0 0 47 12 20.34 249 0 0.00 203 78 27.56 TTN 0 genome.wustl.edu 37 2 179605611 179605611 + Missense_Mutation SNP T T C TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 2 179605611 179605611 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11836 p.I3946V 0.067 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 0 no_errors 0 0 0 28 0 0 22 7 24.14 173 1 0.57 151 21 12.21 TTN 0 genome.wustl.edu 37 2 179605613 179605613 + Missense_Mutation SNP G G A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 2 179605613 179605613 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11834 p.S3945F 0.318 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 0 no_errors 0 0 0 29 0 0 21 7 25 173 0 0.00 148 22 12.87 KIF9 0 genome.wustl.edu 37 3 47286394 47286394 + Silent SNP A A G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 3 47286394 47286394 A G SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known silent c.1401 p.D467 0.057 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom 0 no_errors 0 0 0 66 0 0 38 14 26.92 156 0 0.00 123 51 29.31 SH3TC1 0 genome.wustl.edu 37 4 8229317 8229317 + Silent SNP G G A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 4 8229317 8229317 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 1 known silent c.1896 p.L632 1 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain 0 no_errors 0 0 0 56 0 0 48 13 21.31 52 0 0.00 59 22 27.16 FGG 0 genome.wustl.edu 37 4 155531219 155531219 + Missense_Mutation SNP C C G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 4 155531219 155531219 C G SNP FGG ENST00000336098 human ensembl 74_37 -1 known missense c.532 p.D178H 1 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom 0 no_errors 0 0 0 87 0 0 89 27 23.28 280 1 0.36 220 66 23.08 DHX16 0 genome.wustl.edu 37 6 30633356 30633356 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 6 30633356 30633356 C T SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.821 p.R274Q 0.691 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C 0 no_errors 0 0 0 46 0 0 44 14 24.14 102 0 0.00 63 21 24.71 PRDM1 0 genome.wustl.edu 37 6 106552868 106552868 + Missense_Mutation SNP A A G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 6 106552868 106552868 A G SNP PRDM1 ENST00000369096 human ensembl 74_37 1 known missense c.833 p.K278R 0.999 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 0 no_errors 0 0 0 54 0 0 58 22 27.5 277 0 0.00 235 69 22.70 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 304 0 0 231 94 28.92 134 0 0.00 72 34 31.78 TNPO3 0 genome.wustl.edu 37 7 128610261 128610261 + Missense_Mutation SNP G G C TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 7 128610261 128610261 G C SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.2641 p.P881A 1 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold 0 no_errors 0 0 0 58 0 0 34 8 19.05 120 0 0.00 88 34 27.87 GOT1L1 0 genome.wustl.edu 37 8 37795248 37795248 + Missense_Mutation SNP A A G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 8 37795248 37795248 A G SNP GOT1L1 ENST00000307599 human ensembl 74_37 -1 known missense c.317 p.V106A 0.461 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans 0 no_errors 0 0 0 28 0 0 22 13 37.14 90 0 0.00 72 30 29.41 SNTG1 0 genome.wustl.edu 37 8 51314864 51314864 + Missense_Mutation SNP A A T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 8 51314864 51314864 A T SNP SNTG1 ENST00000518864 human ensembl 74_37 1 known missense c.122 p.Q41L 1 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology 0 no_errors 0 0 0 61 0 0 58 13 18.06 249 0 0.00 142 57 28.50 AGO2 0 genome.wustl.edu 37 8 141572626 141572626 + Silent SNP T T C TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 8 141572626 141572626 T C SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.444 p.S148 0.925 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi 0 no_errors 0 0 0 32 0 0 23 12 34.29 65 0 0.00 57 23 28.75 IFNK 0 genome.wustl.edu 37 9 27524943 27524943 + Silent SNP A A G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 9 27524943 27524943 A G SNP IFNK ENST00000276943 human ensembl 74_37 1 known silent c.609 p.L203 0.012 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta 0 no_errors 0 0 0 71 0 0 42 19 31.15 268 0 0.00 195 65 25.00 ABCC2 0 genome.wustl.edu 37 10 101578955 101578955 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 10 101578955 101578955 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 1 known missense c.2549 p.A850V 1 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc 0 no_errors 0 0 0 30 0 0 22 8 26.67 241 0 0.00 167 50 23.04 SCYL2 0 genome.wustl.edu 37 12 100732436 100732436 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 12 100732436 100732436 C T SNP SCYL2 ENST00000360820 human ensembl 74_37 1 known missense c.2276 p.S759F 1 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 70 0 0 44 16 26.67 166 0 0.00 155 61 28.24 RIPK3 0 genome.wustl.edu 37 14 24807633 24807633 + Silent SNP G G A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 14 24807633 24807633 G A SNP RIPK3 ENST00000216274 human ensembl 74_37 -1 known silent c.612 p.V204 0.994 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,prints_Ser-Thr/Tyr_kinase_cat_dom 0 no_errors 0 0 0 63 0 0 41 18 30.51 231 0 0.00 153 67 30.45 PSEN1 0 genome.wustl.edu 37 14 73640274 73640274 + Silent SNP A A C TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 14 73640274 73640274 A C SNP PSEN1 ENST00000324501 human ensembl 74_37 1 known silent c.339 p.L113 1 pfam_Peptidase_A22A pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A 0 no_errors 0 0 0 73 0 0 92 32 25.81 245 0 0.00 230 55 19.30 ENSG00000256530 0 genome.wustl.edu 37 15 76030437 76030437 + Missense_Mutation SNP G G A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 15 76030437 76030437 G A SNP ENSG00000256530 ENST00000543887 human ensembl 74_37 1 novel missense c.61 p.A21T 0.884 NULL NULL 0 no_errors 0 0 0 51 0 0 44 9 16.98 85 0 0.00 75 30 28.30 ENSG00000256530 0 genome.wustl.edu 37 15 76030438 76030438 + Missense_Mutation SNP C C G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 15 76030438 76030438 C G SNP ENSG00000256530 ENST00000543887 human ensembl 74_37 1 novel missense c.62 p.A21G 0.894 NULL NULL 0 no_errors 0 0 0 51 0 0 44 9 16.98 84 0 0.00 74 29 27.88 CRYM 0 genome.wustl.edu 37 16 21289563 21289563 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 16 21289563 21289563 C T SNP CRYM ENST00000219599 human ensembl 74_37 -1 known missense c.10 p.V4I 0.053 NULL pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd 0 no_errors 0 0 0 108 0 0 95 33 25.78 67 0 0.00 36 17 32.08 SLC22A31 0 genome.wustl.edu 37 16 89265865 89265865 + Missense_Mutation SNP T T G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 16 89265865 89265865 T G SNP SLC22A31 ENST00000562855 human ensembl 74_37 -1 novel missense c.569 p.H190P 0 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom 0 no_errors 0 0 0 83 0 0 59 10 14.49 72 0 0.00 68 11 13.92 H3F3B 0 genome.wustl.edu 37 17 73775230 73775230 + Missense_Mutation SNP C C A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 17 73775230 73775230 C A SNP H3F3B ENST00000254810 human ensembl 74_37 -1 known missense c.26 p.R9L 1 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 0 no_errors 0 0 0 118 0 0 75 25 24.75 56 0 0.00 32 10 23.81 OR7D4 0 genome.wustl.edu 37 19 9325421 9325421 + Silent SNP G G A TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 19 9325421 9325421 G A SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known silent c.93 p.F31 0.422 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn 0 no_errors rs142183744 G->A 0 42 0 0 31 10 24.39 72 0 0.00 51 18 26.09 EPB41L1 0 genome.wustl.edu 37 20 34761684 34761684 + Splice_Site SNP A A G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 20 34761684 34761684 A G SNP EPB41L1 ENST00000338074 human ensembl 74_37 1 known splice_site c.1-2 e1-2 1 0 0 0 no_errors 0 0 0 49 0 0 19 4 17.39 104 0 0.00 74 21 22.11 ATP6V1E1 0 genome.wustl.edu 37 22 18096014 18096014 + Missense_Mutation SNP C C T TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 22 18096014 18096014 C T SNP ATP6V1E1 ENST00000253413 human ensembl 74_37 -1 known missense c.172 p.E58K 1 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu 0 no_errors 0 0 0 43 0 0 32 15 31.91 72 0 0.00 50 23 31.51 SLC24A1 0 genome.wustl.edu 37 15 65936780 65936782 + In_Frame_Del DEL AGA AGA - TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 AGA AGA AGA - AGA AGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 15 65936780 65936782 AGA 0 DEL SLC24A1 ENST00000261892 human ensembl 74_37 1 known in_frame_del c.2069_2071 p.K691in_frame_del 0.997:0.994:0.997 tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger 0 no_errors 0 0 0 30 0 0 25 5 16.67 145 0 0.00 133 31 18.90 EEF1A1 0 genome.wustl.edu 37 6 74227391 74227391 + RNA SNP T T G TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 6 74227391 74227391 T G SNP EEF1A1 ENST00000491404 human ensembl 74_37 -1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 19 0 0 25 6 19.35 3 0 0.00 2 0 0.00 TCEB3B 0 genome.wustl.edu 37 18 44561386 44561386 + Missense_Mutation SNP G G C TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 18 44561386 44561386 G C SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.250 p.R84G 0 superfamily_TFIIS_N pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub 0 no_errors rs199546236 G->C 0 10 1 9.09 19 2 9.52 9 0 0.00 8 0 0.00 NFE2L3 0 genome.wustl.edu 37 7 26192571 26192571 + Frame_Shift_Del DEL G G - TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 7 26192571 26192571 G 0 DEL NFE2L3 ENST00000056233 human ensembl 74_37 1 known frame_shift_del c.453 p.G153fs 0 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP 0 no_errors 0 0 0 11 0 0 14 2 12.5 6 0 0.00 3 0 0.00 CEBPA 0 genome.wustl.edu 37 19 33793008 33793010 + In_Frame_Del DEL CGC CGC - TCGA-X7-A8M5-01A-11D-A423-09 TCGA-X7-A8M5-10A-01D-A426-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7cb17e0e-abf2-4163-a81e-7ef59447b487 7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351 19 33793008 33793010 CGC 0 DEL CEBPA ENST00000498907 human ensembl 74_37 -1 known in_frame_del c.313_311 p.G104in_frame_del 0.998:0.995:1.000 pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP 0 no_errors 0 0 0 13 0 0 1 2 66.67 1 0 0.00 0 0 0.00