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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CDH7 0 genome.wustl.edu 37 18 63547710 63547710 + Silent SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 18 63547710 63547710 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1938 p.I646 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 86 0 0.00 99 11 10.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210392 143210396 + R DEL ATAAC ATAAC - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 ATAAC ATAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 143210392 143210396 ATAAC - DEL ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.841:0.809:0.673:0.586:0.231 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 PRODH2 0 genome.wustl.edu 37 19 36293961 36293961 + Missense_Mutation SNP G G T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 19 36293961 36293961 G T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.1249 p.L417M 1.000 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 tier1 - - 64 0 0.00 7 30 81.08 TIE1 0 genome.wustl.edu 37 1 43783334 43783334 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 43783334 43783334 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2720 p.C907Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 73 0 0.00 56 9 13.85 CCDC134 0 genome.wustl.edu 37 22 42205936 42205936 + Silent SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 22 42205936 42205936 C T SNP CCDC134 ENST00000255784 human ensembl 74_37 +1 known silent c.157 p.L53 1.000 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 tier1 - - 129 0 0.00 72 45 38.46 SUMO3 0 genome.wustl.edu 37 21 46228430 46228430 + Frame_Shift_Del DEL A A - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 21 46228430 46228430 A - DEL SUMO3 ENST00000397893 human ensembl 74_37 -1 putative frame_shift_del c.276 p.F92fs 0.008 NULL pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom - no_errors SUMO3 HGNC ENSG00000184900 tier1 28 0 0.00 21 3 12.50 MALAT1 0 genome.wustl.edu 37 11 65272832 65272832 + R SNP G G C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 11 65272832 65272832 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 125 0 0.00 51 47 47.96 PTPRM 0 genome.wustl.edu 37 18 8380421 8380421 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 18 8380421 8380421 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3917 p.A1306V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 100 0 0.00 67 45 40.18 TSPY1 0 genome.wustl.edu 37 Y 9304680 9304680 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c Y 9304680 9304680 G A SNP TSPY1 ENST00000451548 human ensembl 74_37 +1 known missense c.71 p.R24Q 0.998 NULL pfam_P_family - no_errors TSPY1 HGNC ENSG00000258992 tier1 - - 299 0 0.00 276 32 10.39 TLK2 0 genome.wustl.edu 37 17 60631103 60631142 + Frame_Shift_Del DEL ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 60631103 60631142 ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT - DEL TLK2 ENST00000326270 human ensembl 74_37 +1 known frame_shift_del c.707_720 p.D236fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.999:1.000:1.000:1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 tier1 DCAF8L2 0 genome.wustl.edu 37 X 27765399 27765399 + Silent SNP A A G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c X 27765399 27765399 A G SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.387 p.E129 0.009 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 20 0 0.00 17 6 25.00 SPEG 0 genome.wustl.edu 37 2 220327072 220327072 + Missense_Mutation SNP T T G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 2 220327072 220327072 T G SNP SPEG ENST00000396695 human ensembl 74_37 +1 known missense c.293 p.I98S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 70 0 0.00 25 25 50.00 AK5 0 genome.wustl.edu 37 1 77984373 77984373 + Missense_Mutation SNP G G C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 77984373 77984373 G C SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1272 p.L424F 0.998 pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 91 0 0.00 63 32 33.68 AK5 0 genome.wustl.edu 37 1 77984281 77984281 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 77984281 77984281 G A SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1180 p.E394K 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 83 0 0.00 68 40 37.04 PCDHB11 0 genome.wustl.edu 37 5 140579996 140579996 + Missense_Mutation SNP G G T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 5 140579996 140579996 G T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.649 p.G217C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 162 0 0.00 88 55 38.46 ENPP3 0 genome.wustl.edu 37 6 131992466 131992466 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 6 131992466 131992466 C T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.641 p.T214M 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 43 0 0.00 46 4 8.00 EVPLL 0 genome.wustl.edu 37 17 18292454 18292454 + R SNP C C G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 18292454 18292454 C G SNP EVPLL ENST00000583003 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors EVPLL HGNC ENSG00000214860 tier1 rs199697056 - 13 0 0.00 13 6 31.58 KRTAP4-16P 0 genome.wustl.edu 37 17 39257945 39257950 + In_Frame_Del DEL CGGGTG CGGGTG - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 CGGGTG CGGGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 39257945 39257950 CGGGTG - DEL KRTAP4-16P ENST00000440582 human ensembl 74_37 -1 putative in_frame_del c.517_512 p.PPV171in_frame_delL 0.000:0.000:0.001:0.001:0.002:0.010 NULL NULL - no_errors KRTAP4-16P HGNC ENSG00000241241 tier1 AFM 0 genome.wustl.edu 37 4 74361050 74361050 + Missense_Mutation SNP C C G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 4 74361050 74361050 C G SNP AFM ENST00000226355 human ensembl 74_37 +1 known missense c.1092 p.D364E 0.728 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 tier1 - - 114 0 0.00 70 71 50.35 GABBR2 0 genome.wustl.edu 37 9 101258770 101258770 + Silent SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 9 101258770 101258770 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.657 p.L219 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 36 0 0.00 45 4 8.16 CAMKK1 0 genome.wustl.edu 37 17 3788691 3788691 + Missense_Mutation SNP G G T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 3788691 3788691 G T SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.291 p.S97R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK1 HGNC ENSG00000004660 tier1 - - 185 0 0.00 19 97 83.62 OPLAH 0 genome.wustl.edu 37 8 145110770 145110770 + Silent SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 8 145110770 145110770 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2169 p.A723 0.004 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 115 0 0.00 68 54 44.26 CHAMP1 0 genome.wustl.edu 37 13 115090959 115090959 + Missense_Mutation SNP C C G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 13 115090959 115090959 C G SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.1642 p.R548G 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 tier1 - - 63 0 0.00 50 14 21.88 GCLC 0 genome.wustl.edu 37 6 53409419 53409419 + Missense_Mutation SNP G G C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 6 53409419 53409419 G C SNP GCLC ENST00000229416 human ensembl 74_37 -1 known missense c.25 p.P9A 1.000 NULL pfam_GCS - no_errors GCLC HGNC ENSG00000001084 tier1 - - 114 0 0.00 66 42 38.89 ATP6V1A 0 genome.wustl.edu 37 3 113505230 113505230 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 3 113505230 113505230 C T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.716 p.P239L 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 tier1 - - 240 0 0.00 176 124 41.06 KIAA1549 0 genome.wustl.edu 37 7 138602177 138602177 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 7 138602177 138602177 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2195 p.A732V 0.116 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 75 0 0.00 57 37 39.36 POM121L1P 0 genome.wustl.edu 37 22 22985468 22985468 + R SNP T T C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 22 22985468 22985468 T C SNP POM121L1P ENST00000402027 human ensembl 74_37 -1 known rna NULL NULL 0.717 - - - no_errors POM121L1P HGNC ENSG00000183169 tier1 - - 370 0 0.00 238 148 38.24 MTPAP 0 genome.wustl.edu 37 10 30653860 30653860 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 10 30653860 30653860 C T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.322 p.G108S 0.001 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 176 0 0.00 165 54 24.66 PPAT 0 genome.wustl.edu 37 4 57301629 57301629 + Missense_Mutation SNP C C A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 4 57301629 57301629 C A SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.15 p.E5D 0.997 pirsf_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 tier1 - - 93 0 0.00 51 34 40.00 ENTPD1-AS1 0 genome.wustl.edu 37 10 97515949 97515949 + R DEL G G - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 10 97515949 97515949 G - DEL ENTPD1-AS1 ENST00000416301 human ensembl 74_37 -1 known rna NULL NULL 0.906 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 tier1 74 0 0.00 68 7 9.33 PTCHD2 0 genome.wustl.edu 37 1 11596444 11596444 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 11596444 11596444 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3880 p.V1294I 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 175 0 0.00 11 89 89.00 CAC1S 0 genome.wustl.edu 37 1 201038658 201038658 + Missense_Mutation SNP A A C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 201038658 201038658 A C SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known missense c.2432 p.L811R 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CAC1S HGNC ENSG00000081248 tier1 - - 85 0 0.00 89 11 11.00 TPTE 0 genome.wustl.edu 37 21 10951356 10951356 + Missense_Mutation SNP T T G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 21 10951356 10951356 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.356 p.K119T 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 717 1 0.14 957 108 10.12 OBSCN 0 genome.wustl.edu 37 1 228521396 228521396 + Silent SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 228521396 228521396 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.15969 p.V5323 0.827 pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 136 0 0.00 74 53 41.73 COL12A1 0 genome.wustl.edu 37 6 75848600 75848600 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 6 75848600 75848600 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5035 p.A1679T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 46 0 0.00 51 8 13.56 ZBTB42 0 genome.wustl.edu 37 14 105268140 105268140 + Missense_Mutation SNP C C G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 14 105268140 105268140 C G SNP ZBTB42 ENST00000342537 human ensembl 74_37 +1 known missense c.606 p.H202Q 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB42 HGNC ENSG00000179627 tier1 - - 74 0 0.00 31 35 53.03 ANKRD20A1 0 genome.wustl.edu 37 9 67968798 67968798 + Missense_Mutation SNP T T C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 9 67968798 67968798 T C SNP ANKRD20A1 ENST00000377477 human ensembl 74_37 +1 known missense c.2357 p.M786T 0.157 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A1 HGNC ENSG00000196774 tier1 rs201758821 - 9 0 0.00 4 6 60.00 MAGEB2 0 genome.wustl.edu 37 X 30236779 30236779 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c X 30236779 30236779 C T SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.82 p.P28S 0.003 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 72 0 0.00 8 82 90.11 SEC22B 0 genome.wustl.edu 37 1 145116561 145116561 + R SNP T T C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 145116561 145116561 T C SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 399 0 0.00 339 41 10.79 ASTN2 0 genome.wustl.edu 37 9 119976716 119976716 + Silent SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 9 119976716 119976716 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.936 p.D312 0.576 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 111 0 0.00 74 54 42.19 SLC45A4 0 genome.wustl.edu 37 8 142222376 142222376 + Missense_Mutation SNP C C A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 8 142222376 142222376 C A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2221 p.G741C 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 76 0 0.00 58 22 27.50 A2M 0 genome.wustl.edu 37 12 9229983 9229983 + Missense_Mutation SNP A A C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 12 9229983 9229983 A C SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3310 p.Y1104D 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 63 0 0.00 5 40 88.89 STRIP1 0 genome.wustl.edu 37 1 110580694 110580697 + R DEL ATAT ATAT - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 ATAT ATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 110580694 110580697 ATAT - DEL STRIP1 ENST00000489059 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors STRIP1 HGNC ENSG00000143093 tier1 46 0 0.00 43 5 10.42 STX12 0 genome.wustl.edu 37 1 28128387 28128387 + R SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 1 28128387 28128387 G A SNP STX12 ENST00000468761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STX12 HGNC ENSG00000117758 tier1 - - 103 0 0.00 67 56 45.53 XAF1 0 genome.wustl.edu 37 17 6663165 6663165 + Nonsense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 6663165 6663165 G A SNP XAF1 ENST00000575147 human ensembl 74_37 +1 known nonsense c.174 p.W58* 0.000 superfamily_TRAF-like superfamily_TRAF-like - no_errors XAF1 HGNC ENSG00000132530 tier1 - - 15 0 0.00 0 9 100.00 PCF11 0 genome.wustl.edu 37 11 82877729 82877729 + Missense_Mutation SNP G G T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 11 82877729 82877729 G T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.1790 p.W597L 1.000 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 130 0 0.00 47 53 53.00 GT1 0 genome.wustl.edu 37 3 50229150 50229164 + In_Frame_Del DEL GCTGGGACCATGGGG GCTGGGACCATGGGG - TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 GCTGGGACCATGGGG GCTGGGACCATGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 3 50229150 50229164 GCTGGGACCATGGGG - DEL GT1 ENST00000232461 human ensembl 74_37 +1 known in_frame_del c.10_6 p.11in_frame_del 0.028:0.025:0.005:0.099:0.108:0.097:0.110:0.223:0.447:0.998:1.000:1.000:1.000:1.000:1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GT1 HGNC ENSG00000114349 tier1 RNU7-1 0 genome.wustl.edu 37 12 7053098 7053099 + R INS - - T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 12 7053098 7053099 - T INS RNU7-1 ENST00000607421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors U47924.31 Clone_based_vega_gene ENSG00000272173 tier1 51 0 0.00 11 18 62.07 PTPRM 0 genome.wustl.edu 37 18 8380423 8380423 + Nonsense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 18 8380423 8380423 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known nonsense c.3919 p.Q1307* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 99 0 0.00 69 43 38.39 ATP6V1A 0 genome.wustl.edu 37 3 113505151 113505151 + Missense_Mutation SNP C C G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 3 113505151 113505151 C G SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.637 p.Q213E 0.999 superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 tier1 - - 172 1 0.58 137 82 37.44 AP5B1 0 genome.wustl.edu 37 11 65546103 65546103 + Missense_Mutation SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 11 65546103 65546103 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1861 p.H621Y 1.000 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 156 0 0.00 106 94 47.00 ENSG00000253200 0 genome.wustl.edu 37 8 22472281 22472281 + R SNP A A T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 8 22472281 22472281 A T SNP ENSG00000253200 ENST00000521025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 tier1 rs113423385 - 16 0 0.00 14 6 30.00 PLXNB1 0 genome.wustl.edu 37 3 48465046 48465046 + Silent SNP G G C TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 3 48465046 48465046 G C SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.975 p.P325 0.802 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 120 0 0.00 64 52 44.83 TP53 0 genome.wustl.edu 37 17 7576852 7576852 + Splice_Site SNP C C A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 17 7576852 7576852 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.993+1 e8+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 rs11575997 - 131 0 0.00 7 91 92.86 STIM2 0 genome.wustl.edu 37 4 27010131 27010131 + Missense_Mutation SNP C C T TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 4 27010131 27010131 C T SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.1516 p.H506Y 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 tier1 - - 95 0 0.00 64 51 44.35 LRRC56 0 genome.wustl.edu 37 11 554105 554105 + Silent SNP G G A TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 da538815-9376-42e8-a240-698c84a0b9ff 0592a9f9-dc45-4eb6-88d6-5fb679f03b4c 11 554105 554105 G A SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known silent c.1458 p.G486 0.537 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 65 0 0.00 58 10 14.71