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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACER3 0 genome.wustl.edu 37 11 76696702 76696702 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 11 76696702 76696702 G T SNP ACER3 ENST00000532485 human ensembl 69_37n +1 known missense c.336 p.K112N 0.928 pfam_Ceramidase pfam_Ceramidase - no_errors ACER3 HGNC ENSG00000078124 319 0 0.00 14 27 65.85 - - - ALS2CR11 0 genome.wustl.edu 37 2 202356525 202356525 + Silent SNP T T C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 2 202356525 202356525 T C SNP ALS2CR11 ENST00000439140 human ensembl 69_37n -1 novel silent c.4539 p.Q1513 0.018 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 289 0 0.00 84 41 32.80 - - - ANKFN1 0 genome.wustl.edu 37 17 54431265 54431265 + Silent SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 17 54431265 54431265 C T SNP ANKFN1 ENST00000318698 human ensembl 69_37n +1 known silent c.468 p.L156 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 89 0 0.00 52 23 30.67 - - - BRMS1 0 genome.wustl.edu 37 11 66105190 66105190 + Nonsense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 11 66105190 66105190 C T SNP BRMS1 ENST00000425825 human ensembl 69_37n -1 known nonsense c.822 p.W274* 0.009 NULL pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 28 0 0.00 36 6 14.29 - - - C4orf50 0 genome.wustl.edu 37 4 5977632 5977632 + Silent SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 4 5977632 5977632 G A SNP C4orf50 ENST00000531445 human ensembl 69_37n -1 known silent c.1641 p.P547 0.496 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 227 0 0.00 50 21 29.58 - - - C9orf3 0 genome.wustl.edu 37 9 97522324 97522324 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 9 97522324 97522324 G T SNP C9orf3 ENST00000375315 human ensembl 69_37n +1 known missense c.259 p.A87S 0.368 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 79 0 0.00 39 23 37.10 - - - C9orf3 0 genome.wustl.edu 37 9 97522325 97522325 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 9 97522325 97522325 C T SNP C9orf3 ENST00000375315 human ensembl 69_37n +1 known missense c.260 p.A87V 0.861 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 77 0 0.00 38 22 36.07 - - - CCDC136 0 genome.wustl.edu 37 7 128444776 128444776 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 7 128444776 128444776 G A SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known missense c.743 p.S248N 1.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 45 0 0.00 28 8 22.22 - - - CPEB1 0 genome.wustl.edu 37 15 83224732 83224732 + Missense_Mutation SNP A A C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 15 83224732 83224732 A C SNP CPEB1 ENST00000562019 human ensembl 69_37n -1 known missense c.747 p.S249R 0.111 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 30 0 0.00 29 6 17.14 - - - CTTNBP2 0 genome.wustl.edu 37 7 117431308 117431308 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 7 117431308 117431308 G T SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known missense c.1942 p.Q648K 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 68 0 0.00 51 16 23.88 - - - EPRS 0 genome.wustl.edu 37 1 220152916 220152916 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 1 220152916 220152916 C T SNP EPRS ENST00000366923 human ensembl 69_37n -1 known missense c.3753 p.M1251I 1.000 pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-synth_IIa_arc-type 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_synth_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_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 287 0 0.00 99 14 12.39 - - - FASTK 0 genome.wustl.edu 37 7 150774052 150774052 + Missense_Mutation SNP G G C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 7 150774052 150774052 G C SNP FASTK ENST00000297532 human ensembl 69_37n -1 known missense c.1490 p.S497W 0.996 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 16 0 0.00 22 5 18.52 - - - GAGE13 0 genome.wustl.edu 37 X 49192696 49192696 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c X 49192696 49192696 C T SNP GAGE13 ENST00000381751 human ensembl 69_37n +1 known missense c.209 p.P70L 0.009 pfam_GAGE pfam_GAGE - no_errors GAGE13 HGNC ENSG00000237597 18 0 0.00 45 20 30.77 - - - GATA3 0 genome.wustl.edu 37 10 8115979 8115980 + Frame_Shift_Ins INS - - G TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 10 8115979 8115980 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1328_1329 p.*445fs 1.000:1.000 NULL pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 21 0 0.00 37 5 11.90 - - - GPM6B 0 genome.wustl.edu 37 X 13834993 13834993 + Missense_Mutation SNP C C G TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c X 13834993 13834993 C G SNP GPM6B ENST00000316715 human ensembl 69_37n -1 known missense c.31 p.E11Q 1.000 NULL pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 334 0 0.00 183 56 23.43 - - - HEATR7B2 0 genome.wustl.edu 37 5 41004585 41004585 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 5 41004585 41004585 G T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.4057 p.L1353M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 292 0 0.00 73 12 14.12 - - - HEATR7B2 0 genome.wustl.edu 37 5 41004586 41004586 + Silent SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 5 41004586 41004586 G T SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known silent c.4056 p.G1352 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 293 0 0.00 73 12 14.12 - - - IRGC 0 genome.wustl.edu 37 19 44222997 44222997 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 19 44222997 44222997 C T SNP IRGC ENST00000244314 human ensembl 69_37n +1 known missense c.287 p.P96L 0.002 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGC HGNC ENSG00000124449 17 0 0.00 10 4 28.57 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 8 0 0.00 22 8 26.67 - - - LIM2 0 genome.wustl.edu 37 19 51890496 51890496 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 19 51890496 51890496 G A SNP LIM2 ENST00000221973 human ensembl 69_37n -1 known missense c.202 p.R68C 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 19 0 0.00 18 6 25.00 - - - LNX1 0 genome.wustl.edu 37 4 54362438 54362438 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 4 54362438 54362438 G T SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known missense c.1102 p.Q368K 0.030 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 33 0 0.00 29 28 49.12 - - - LRBA 0 genome.wustl.edu 37 4 151793884 151793884 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 4 151793884 151793884 G A SNP LRBA ENST00000357115 human ensembl 69_37n -1 known missense c.2189 p.S730L 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 155 0 0.00 17 14 45.16 - - - LSG1 0 genome.wustl.edu 37 3 194387183 194387183 + Silent SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 3 194387183 194387183 C T SNP LSG1 ENST00000265245 human ensembl 69_37n -1 known silent c.345 p.R115 0.879 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 248 0 0.00 57 8 12.31 - - - MTHFD1 0 genome.wustl.edu 37 14 64898264 64898264 + Silent SNP C C A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 14 64898264 64898264 C A SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known silent c.1494 p.L498 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 135 0 0.00 56 20 26.32 - - - MYH14 0 genome.wustl.edu 37 19 50771580 50771580 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 19 50771580 50771580 C T SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.2989 p.R997C 0.989 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 44 0 0.00 35 11 23.91 - - - NEB 0 genome.wustl.edu 37 2 152410473 152410473 + Missense_Mutation SNP T T C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 2 152410473 152410473 T C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.19495 p.M6499V 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 174 0 0.00 66 29 30.53 - - - NTNG2 0 genome.wustl.edu 37 9 135073714 135073714 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 9 135073714 135073714 G A SNP NTNG2 ENST00000360670 human ensembl 69_37n +1 known missense c.575 p.R192H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 9 0 0.00 11 4 26.67 - - - NXN 0 genome.wustl.edu 37 17 722712 722712 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 17 722712 722712 G T SNP NXN ENST00000571684 human ensembl 69_37n -1 putative missense c.350 p.A117E 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NXN HGNC ENSG00000167693 40 0 0.00 20 24 54.55 - - - PARD6A 0 genome.wustl.edu 37 16 67695950 67695950 + Silent SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 16 67695950 67695950 C T SNP PARD6A ENST00000219255 human ensembl 69_37n +1 known silent c.441 p.D147 0.998 superfamily_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6A HGNC ENSG00000102981 87 0 0.00 45 10 18.18 - - - PC 0 genome.wustl.edu 37 11 66631396 66631396 + Missense_Mutation SNP C C T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 11 66631396 66631396 C T SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.1217 p.R406H 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 75 0 0.00 92 39 29.55 - - - PCBP2 0 genome.wustl.edu 37 12 53849274 53849274 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 12 53849274 53849274 G A SNP PCBP2 ENST00000562264 human ensembl 69_37n +1 novel missense c.64 p.G22R 0.980 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCBP2 HGNC ENSG00000197111 272 0 0.00 67 32 32.32 - - - PTPRM 0 genome.wustl.edu 37 18 8376551 8376551 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 18 8376551 8376551 G A SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known missense c.3421 p.V1141I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 76 0 0.00 44 21 32.31 - - - RARB 0 genome.wustl.edu 37 3 25542765 25542765 + Nonsense_Mutation SNP C C A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 3 25542765 25542765 C A SNP RARB ENST00000404969 human ensembl 69_37n +1 known nonsense c.420 p.C140* 1.000 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 200 0 0.00 64 16 19.75 - - - REV3L 0 genome.wustl.edu 37 6 111696389 111696389 + Missense_Mutation SNP T T C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 6 111696389 111696389 T C SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.3169 p.K1057E 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 352 0 0.00 88 37 29.60 - - - RREB1 0 genome.wustl.edu 37 6 7211836 7211836 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 6 7211836 7211836 G A SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known missense c.601 p.E201K 0.498 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 149 1 0.67 46 24 34.29 - - - SHANK2 0 genome.wustl.edu 37 11 70333654 70333654 + Missense_Mutation SNP C C A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 11 70333654 70333654 C A SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known missense c.2747 p.R916I 0.898 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 104 0 0.00 121 50 29.07 - - - SHANK3 0 genome.wustl.edu 37 22 51143180 51143180 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 22 51143180 51143180 G A SNP SHANK3 ENST00000262795 human ensembl 69_37n +1 known missense c.1834 p.E612K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 41 0 0.00 27 8 22.86 - - - SLC22A3 0 genome.wustl.edu 37 6 160864753 160864753 + Nonsense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 6 160864753 160864753 G T SNP SLC22A3 ENST00000392145 human ensembl 69_37n +1 known nonsense c.1492 p.E498* 0.999 pfam_Sub_transporter,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 SLC22A3 HGNC ENSG00000146477 261 0 0.00 55 33 37.50 - - - SLMAP 0 genome.wustl.edu 37 3 57908744 57908745 + In_Frame_Ins INS - - AAT TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 3 57908744 57908745 - AAT INS SLMAP ENST00000428312 human ensembl 69_37n +1 known in_frame_ins c.2388_2389 p.798in_frame_insN 1.000:1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 83 0 0.00 33 4 10.81 - - - SMTNL2 0 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 17 4496467 4496467 G T SNP SMTNL2 ENST00000389313 human ensembl 69_37n +1 known splice_site c.730+1 e3+1 0.999 - - - no_errors SMTNL2 HGNC ENSG00000188176 19 0 0.00 29 8 21.62 - - - SP100 0 genome.wustl.edu 37 2 231334496 231334496 + Frame_Shift_Del DEL A A - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 2 231334496 231334496 A - DEL SP100 ENST00000341950 human ensembl 69_37n +1 known frame_shift_del c.1350 p.K453fs 0.007 NULL pfam_Sp100 - no_errors SP100 HGNC ENSG00000067066 28 0 0.00 4 2 33.33 - - - STAB1 0 genome.wustl.edu 37 3 52552806 52552806 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 3 52552806 52552806 G A SNP STAB1 ENST00000321725 human ensembl 69_37n +1 known missense c.4955 p.R1652Q 0.957 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 22 0 0.00 13 7 35.00 - - - TDRD5 0 genome.wustl.edu 37 1 179604942 179604942 + Silent SNP C C A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 1 179604942 179604942 C A SNP TDRD5 ENST00000444136 human ensembl 69_37n +1 known silent c.1440 p.I480 0.721 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 153 0 0.00 58 8 12.12 - - - TEX15 0 genome.wustl.edu 37 8 30700783 30700783 + Silent SNP T T C TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 8 30700783 30700783 T C SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known silent c.5751 p.L1917 0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 332 0 0.00 53 49 48.04 - - - TP53 0 genome.wustl.edu 37 17 7576924 7576925 + Frame_Shift_Del DEL GT GT - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 17 7576924 7576925 GT - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.922_921 p.L308fs 0.955:0.952 NULL 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 139 0 0.00 58 66 51.97 - - - TRAPPC10 0 genome.wustl.edu 37 21 45475668 45475668 + Frame_Shift_Del DEL T T - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 21 45475668 45475668 T - DEL TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known frame_shift_del c.572 p.M192fs 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 189 0 0.00 91 16 14.68 - - - UBXN11 0 genome.wustl.edu 37 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 1 26608890 26608891 CC - DEL UBXN11 ENST00000374221 human ensembl 69_37n -1 known frame_shift_del c.1463_1462 p.G488fs 0.001:0.001 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 8 0 0.00 8 4 30.77 - - - WDR13 0 genome.wustl.edu 37 X 48457035 48457035 + RNA DEL C C - TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c X 48457035 48457035 C - DEL WDR13 ENST00000479279 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors WDR13 HGNC ENSG00000101940 12 0 0.00 6 4 40.00 - - - ZDBF2 0 genome.wustl.edu 37 2 207174608 207174608 + Missense_Mutation SNP G G T TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 2 207174608 207174608 G T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.5356 p.D1786Y 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 68 0 0.00 32 21 39.62 - - - ZNF695 0 genome.wustl.edu 37 1 247151327 247151327 + Missense_Mutation SNP C C A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 1 247151327 247151327 C A SNP ZNF695 ENST00000339986 human ensembl 69_37n -1 known missense c.490 p.G164C 0.563 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 ZNF695 HGNC ENSG00000197472 188 0 0.00 113 13 10.32 - - - ZNFX1 0 genome.wustl.edu 37 20 47865218 47865218 + Missense_Mutation SNP G G A TCGA-C8-A138-01A-11D-A10Y-09 TCGA-C8-A138-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3474e56-8457-4f0b-8a2f-58fdd8f58607 6128514c-cc6c-4e40-9e59-55ba8f6f361c 20 47865218 47865218 G A SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known missense c.4343 p.S1448F 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 33 0 0.00 84 21 20.00 - - -