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 CTPS2 0 genome.wustl.edu 37 X 16711302 16711302 + Missense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b X 16711302 16711302 C T SNP CTPS2 ENST00000359276 human ensembl 74_37 -1 known missense c.601 p.V201I 1 pfam_CTP_synthase_N,superfamily_P-loop_NTPase,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase 0 no_errors 0 0 0 67 0 0 69 17 19.77 230 0 0.00 124 31 20.00 DMD 0 genome.wustl.edu 37 X 32482815 32482815 + Missense_Mutation SNP T T G TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b X 32482815 32482815 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3164 p.N1055T 1 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ 0 no_errors 0 0 0 69 0 0 57 46 44.66 364 0 0.00 147 87 37.18 CCDC22 0 genome.wustl.edu 37 X 49106160 49106160 + Missense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b X 49106160 49106160 C T SNP CCDC22 ENST00000376227 human ensembl 74_37 1 known missense c.1744 p.R582W 0.998 pfam_DUF812 pfam_DUF812 0 no_errors rs201021614 C->A,T 0 121 0 0 24 15 38.46 63 0 0.00 31 9 21.95 PAX7 0 genome.wustl.edu 37 1 19027246 19027246 + Missense_Mutation SNP G G A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 1 19027246 19027246 G A SNP PAX7 ENST00000375375 human ensembl 74_37 1 known missense c.886 p.G296S 0.999 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom 0 no_errors rs370742910 G->A 0 32 0 0 21 12 36.36 83 0 0.00 40 20 33.33 UBR4 0 genome.wustl.edu 37 1 19470510 19470510 + Missense_Mutation SNP T T C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 1 19470510 19470510 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8143 p.T2715A 1 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin 0 no_errors 0 0 0 71 1 1.37 94 40 29.85 232 0 0.00 135 54 28.57 NPHS2 0 genome.wustl.edu 37 1 179528897 179528897 + Splice_Site SNP C C A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 1 179528897 179528897 C A SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known splice_site c.452-1 e4-1 1 0 0 0 no_errors 0 0 0 24 0 0 20 7 25.93 204 0 0.00 107 7 6.14 RYR2 0 genome.wustl.edu 37 1 237777980 237777980 + Missense_Mutation SNP T T A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 1 237777980 237777980 T A SNP RYR2 ENST00000360064 human ensembl 74_37 1 known missense c.5546 p.F1849Y 1 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif 0 no_errors 0 0 0 28 0 0 15 21 58.33 129 0 0.00 59 32 34.78 ADAM23 0 genome.wustl.edu 37 2 207459556 207459556 + Missense_Mutation SNP G G A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 2 207459556 207459556 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 1 known missense c.2174 p.C725Y 1 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B 0 no_errors 0 0 0 70 0 0 51 33 39.29 232 0 0.00 81 56 40.58 SCARB2 0 genome.wustl.edu 37 4 77100714 77100714 + Missense_Mutation SNP C C A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 4 77100714 77100714 C A SNP SCARB2 ENST00000264896 human ensembl 74_37 -1 known missense c.568 p.V190F 0 pfam_CD36,prints_LimpII pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen 0 no_errors 0 0 0 53 0 0 83 44 34.38 345 0 0.00 126 81 39.13 TAF9 0 genome.wustl.edu 37 5 68665316 68665316 + Missense_Mutation SNP A A C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 5 68665316 68665316 A C SNP TAF9 ENST00000380822 human ensembl 74_37 -1 known missense c.2 p.M1R 1 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase 0 no_errors 0 0 0 17 0 0 11 5 31.25 54 0 0.00 33 16 32.65 LOC202181 0 genome.wustl.edu 37 5 177059218 177059218 + RNA SNP G G A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 5 177059218 177059218 G A SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.513 0 0 0 no_errors 0 0 0 61 0 0 40 11 21.57 69 0 0.00 39 9 18.75 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 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 0 442 0 0 637 248 28.02 197 0 0.00 116 48 29.27 KHDRBS3 0 genome.wustl.edu 37 8 136554927 136554927 + Missense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 8 136554927 136554927 C T SNP KHDRBS3 ENST00000355849 human ensembl 74_37 1 known missense c.238 p.R80C 0.998 smart_KH_dom smart_KH_dom 0 no_errors 0 0 0 69 0 0 72 51 41.46 355 0 0.00 124 93 42.66 RALGPS1 0 genome.wustl.edu 37 9 129815132 129815132 + Silent SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 9 129815132 129815132 C T SNP RALGPS1 ENST00000259351 human ensembl 74_37 1 known silent c.397 p.L133 1 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 0 no_errors rs150464808 C->T 0 78 0 0 77 51 39.53 330 2 0.60 130 98 42.79 ZNF438 0 genome.wustl.edu 37 10 31138511 31138511 + Missense_Mutation SNP T T C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 10 31138511 31138511 T C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.823 p.T275A 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 0 no_errors 0 0 0 79 0 0 87 45 34.09 325 0 0.00 105 83 44.15 PPFIBP1 0 genome.wustl.edu 37 12 27835371 27835371 + Nonsense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 12 27835371 27835371 C T SNP PPFIBP1 ENST00000318304 human ensembl 74_37 1 known nonsense c.2116 p.Q706* 1 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 0 no_errors 0 0 0 67 0 0 100 66 39.76 344 0 0.00 122 96 44.04 SLC22A17 0 genome.wustl.edu 37 14 23816667 23816667 + Splice_Site SNP A A C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 14 23816667 23816667 A C SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known splice_site c.1216+2 e7+2 0.988 0 0 0 no_errors 0 0 0 41 0 0 18 10 35.71 129 0 0.00 69 32 31.37 MAP2K1 0 genome.wustl.edu 37 15 66727443 66727443 + Missense_Mutation SNP T T G TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 15 66727443 66727443 T G SNP MAP2K1 ENST00000307102 human ensembl 74_37 1 known missense c.159 p.F53L 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom 0 no_errors 0 0 0 41 0 0 22 38 63.33 182 0 0.00 56 83 59.71 AMDHD2 0 genome.wustl.edu 37 16 2577812 2577812 + Missense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 16 2577812 2577812 C T SNP AMDHD2 ENST00000413459 human ensembl 74_37 1 known missense c.454 p.R152W 1 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite 0 no_errors 0 0 0 14 0 0 2 9 81.82 70 0 0.00 26 13 33.33 FAM65A 0 genome.wustl.edu 37 16 67575618 67575618 + Missense_Mutation SNP C C T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 16 67575618 67575618 C T SNP FAM65A ENST00000422602 human ensembl 74_37 1 known missense c.1073 p.T358I 1 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd 0 no_errors 0 0 0 33 0 0 20 11 35.48 175 0 0.00 84 44 34.38 SNORD3B-1 0 genome.wustl.edu 37 17 18965422 18965422 + RNA SNP G G A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 17 18965422 18965422 G A SNP SNORD3B-1 ENST00000363359 human ensembl 74_37 1 known rna NULL NULL 0.075 0 0 0 no_errors rs200752056 G->A 0 41 0 0 27 6 18.18 32 0 0.00 22 7 24.14 KRT26 0 genome.wustl.edu 37 17 38927440 38927440 + Missense_Mutation SNP T T C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 17 38927440 38927440 T C SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known missense c.490 p.N164D 1 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I 0 no_errors 0 0 0 127 0 0 119 77 39.29 191 0 0.00 96 50 34.25 RLN3 0 genome.wustl.edu 37 19 14141521 14141521 + Splice_Site SNP G G A TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 19 14141521 14141521 G A SNP RLN3 ENST00000431365 human ensembl 74_37 1 known splice_site c.191-1 e2-1 0.987 0 0 0 no_errors 0 0 0 43 0 0 21 9 30 92 0 0.00 44 11 19.64 PINLYP 0 genome.wustl.edu 37 19 44085496 44085496 + Missense_Mutation SNP G G C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 19 44085496 44085496 G C SNP PINLYP ENST00000562255 human ensembl 74_37 1 known missense c.56 p.C19S 1 NULL pfam_LY6_UPAR 0 no_errors 0 0 0 47 0 0 28 13 31.71 189 0 0.00 98 42 29.58 BDNF-AS 0 genome.wustl.edu 37 11 27681170 27681171 + RNA INS - - TC TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 - - - TC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 11 27681170 27681171 0 TC INS BDNF-AS ENST00000530313 human ensembl 74_37 1 known rna NULL NULL 0.000:0.000 0 0 0 no_errors 0 0 0 57 0 0 67 10 12.99 145 0 0.00 95 19 16.67 ABCD4 0 genome.wustl.edu 37 14 74759934 74759935 + Frame_Shift_Ins INS - - GC TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 - - - GC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 14 74759934 74759935 0 GC INS ABCD4 ENST00000356924 human ensembl 74_37 -1 known frame_shift_ins c.737_736 p.H246fs 1.000:1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom 0 no_errors 0 0 0 34 0 0 23 11 32.35 125 0 0.00 64 21 24.71 SETMAR 0 genome.wustl.edu 37 3 4358878 4358878 + Missense_Mutation SNP T T G TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 3 4358878 4358878 T G SNP SETMAR ENST00000358065 human ensembl 74_37 1 known missense c.2003 p.L668R 0.939 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom 0 no_errors 0 0 0 30 0 0 35 23 39.66 0 0 0.00 0 0 0.00 DSPP 0 genome.wustl.edu 37 4 88537216 88537216 + Silent SNP T T C TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 4 88537216 88537216 T C SNP DSPP ENST00000282478 human ensembl 74_37 1 known silent c.3402 p.D1134 0.798 NULL NULL 0 no_errors 0 0 0 17 0 0 40 10 19.61 5 0 0.00 1 0 0.00 DNAH5 0 genome.wustl.edu 37 5 13810293 13810293 + Missense_Mutation SNP G G T TCGA-XM-A8RF-01A-11D-A423-09 TCGA-XM-A8RF-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2671e3eb-3719-4b12-9cda-fd4f03999e93 87fd64b3-7a52-4876-ab3d-ca465f60355b 5 13810293 13810293 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7484 p.A2495E 0.309 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 0 no_errors 0 0 0 37 0 0 46 4 7.84 11 0 0.00 10 0 0.00