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 MYO1A 0 genome.wustl.edu 37 12 57441190 57441190 + Silent SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 12 57441190 57441190 C T SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known silent c.327 p.E109 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 - - 21 0 0.00 19 7 26.92 RP1L1 0 genome.wustl.edu 37 8 10466863 10466863 + Missense_Mutation SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 8 10466863 10466863 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4745 p.R1582Q 0.080 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 29 0 0.00 24 8 25.00 SLC16A6 0 genome.wustl.edu 37 17 66267497 66267497 + Silent SNP G G A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 17 66267497 66267497 G A SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known silent c.804 p.V268 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 tier1 - - 106 0 0.00 77 26 25.24 MAGEC1 0 genome.wustl.edu 37 X 140996612 140996612 + Missense_Mutation SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 X 140996612 140996612 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3422 p.S1141F 0.004 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 105 0 0.00 66 23 25.84 SPINK5 0 genome.wustl.edu 37 5 147470592 147470592 + R SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 5 147470592 147470592 G T SNP SPINK5 ENST00000476608 human ensembl 74_37 +1 known rna NULL NULL 0.844 - - - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 36 0 0.00 34 4 10.53 TNN 0 genome.wustl.edu 37 1 175049496 175049496 + Missense_Mutation SNP A A G TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 1 175049496 175049496 A G SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.982 p.I328V 0.242 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 65 0 0.00 38 11 22.45 RBP2 0 genome.wustl.edu 37 3 139181030 139181030 + Missense_Mutation SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 3 139181030 139181030 C T SNP RBP2 ENST00000232217 human ensembl 74_37 -1 known missense c.176 p.R59H 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 tier1 - - 111 0 0.00 66 19 22.35 GAB3 0 genome.wustl.edu 37 X 153906377 153906378 + R INS - - A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 X 153906377 153906378 - A INS GAB3 ENST00000496390 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.006 - - - no_errors GAB3 HGNC ENSG00000160219 tier1 30 0 0.00 36 6 14.29 CRY2 0 genome.wustl.edu 37 11 45882531 45882531 + Missense_Mutation SNP G G C TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 11 45882531 45882531 G C SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.663 p.E221D 1.000 superfamily_D_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_D_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_D_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 tier1 - - 43 0 0.00 16 10 38.46 TP53 0 genome.wustl.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 17 7577559 7577559 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.722 p.S241F 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934573 - 54 0 0.00 34 8 19.05 BAZ2B 0 genome.wustl.edu 37 2 160317691 160317691 + R DEL T T - TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 2 160317691 160317691 T - DEL BAZ2B ENST00000483316 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors BAZ2B HGNC ENSG00000123636 tier1 19 0 0.00 24 5 17.24 CIDEA 0 genome.wustl.edu 37 18 12254562 12254563 + Frame_Shift_Ins INS - - CCGCGCACACACCCAT TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 18 12254562 12254563 - CCGCGCACACACCCAT INS CIDEA ENST00000522713 human ensembl 74_37 +1 known frame_shift_ins c.180_181 p.H64fs 0.077:0.122 NULL NULL - no_errors CIDEA HGNC ENSG00000176194 tier1 CAMKMT 0 genome.wustl.edu 37 2 44619054 44619054 + R SNP C C A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 2 44619054 44619054 C A SNP CAMKMT ENST00000477623 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CAMKMT HGNC ENSG00000143919 tier1 - - 48 0 0.00 41 4 8.89 PIPSL 0 genome.wustl.edu 37 10 95718381 95718382 + R INS - - T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 10 95718381 95718382 - T INS PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.065:0.064 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 9 0 0.00 5 4 44.44 CASP8AP2 0 genome.wustl.edu 37 6 90572405 90572405 + R DEL C C - TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 6 90572405 90572405 C - DEL CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 26 0 0.00 23 2 8.00 SELP 0 genome.wustl.edu 37 1 169562868 169562868 + Missense_Mutation SNP C C A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 1 169562868 169562868 C A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.2382 p.L794F 0.939 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 60 0 0.00 45 10 18.18 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899370 112899372 + In_Frame_Del DEL CAG CAG - TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 9 112899370 112899372 CAG - DEL PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known in_frame_del c.1546_1548 p.Q519in_frame_del 0.823:0.886:0.022 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 48 0 0.00 30 3 9.09 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs121913279 - 41 0 0.00 36 8 18.18 SV2A 0 genome.wustl.edu 37 1 149879718 149879718 + Missense_Mutation SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 1 149879718 149879718 G T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.1420 p.H474N 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 - - 55 0 0.00 34 4 10.53 EM 0 genome.wustl.edu 37 4 71508541 71508541 + Silent SNP T T C TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 4 71508541 71508541 T C SNP EM ENST00000396073 human ensembl 74_37 +1 known silent c.1398 p.V466 0.064 NULL NULL - no_errors EM HGNC ENSG00000132464 tier1 - - 92 0 0.00 55 28 33.73 PSMB3 0 genome.wustl.edu 37 17 36909562 36909562 + Missense_Mutation SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 17 36909562 36909562 G T SNP PSMB3 ENST00000225426 human ensembl 74_37 +1 known missense c.163 p.G55W 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 tier1 - - 51 0 0.00 42 4 8.70 TIRAP 0 genome.wustl.edu 37 11 126162666 126162666 + Missense_Mutation SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 11 126162666 126162666 G T SNP TIRAP ENST00000392678 human ensembl 74_37 +1 known missense c.362 p.R121L 0.997 pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom - no_errors TIRAP HGNC ENSG00000150455 tier1 - - 48 0 0.00 35 4 10.26 PABPC1L 0 genome.wustl.edu 37 20 43581294 43581294 + Frame_Shift_Del DEL A A - TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 20 43581294 43581294 A - DEL PABPC1L ENST00000372819 human ensembl 74_37 +1 known frame_shift_del c.449 p.*150fs 0.024 NULL pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD - no_errors PABPC1L HGNC ENSG00000101104 tier1 38 0 0.00 23 3 11.54 PCDHA3 0 genome.wustl.edu 37 5 140182562 140182562 + Missense_Mutation SNP G G A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 5 140182562 140182562 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1780 p.V594M 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 PCDHA3 HGNC ENSG00000255408 tier1 - - 94 0 0.00 93 9 8.82 FLNC 0 genome.wustl.edu 37 7 128483309 128483309 + Silent SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 7 128483309 128483309 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.2577 p.I859 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 67 0 0.00 29 12 29.27 ADAMTS19 0 genome.wustl.edu 37 5 129072866 129072866 + Missense_Mutation SNP A A T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 5 129072866 129072866 A T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3579 p.E1193D 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 33 0 0.00 36 4 10.00 ENSG00000216089 0 genome.wustl.edu 37 4 160216906 160216906 + R SNP T T C TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 4 160216906 160216906 T C SNP ENSG00000216089 ENST00000401270 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC105316.1 Clone_based_ensembl_gene ENSG00000216089 tier1 rs10024829 - 36 0 0.00 35 6 14.63 WDR54 0 genome.wustl.edu 37 2 74648876 74648876 + R SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 2 74648876 74648876 C T SNP WDR54 ENST00000461531 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 145 0 0.00 130 40 23.53 DEAF1 0 genome.wustl.edu 37 11 688025 688025 + Missense_Mutation SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 11 688025 688025 C T SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.550 p.G184S 0.995 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 tier1 - - 54 0 0.00 37 9 19.57 COL1A1 0 genome.wustl.edu 37 17 48264176 48264176 + Silent SNP G G A TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 17 48264176 48264176 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.3639 p.G1213 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 - - 51 0 0.00 37 4 9.76 SLC6A20 0 genome.wustl.edu 37 3 45801483 45801483 + Silent SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 3 45801483 45801483 G T SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known silent c.1495 p.R499 0.437 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 tier1 - - 59 0 0.00 39 4 9.30 C19orf25 0 genome.wustl.edu 37 19 1478412 1478417 + R DEL TTTTGT TTTTGT - TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 TTTTGT TTTTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 19 1478412 1478417 TTTTGT - DEL C19orf25 ENST00000592605 human ensembl 74_37 -1 known rna NULL NULL 0.425:0.418:0.410:0.402:0.395:0.387 - - - no_errors C19orf25 HGNC ENSG00000119559 tier1 CPAMD8 0 genome.wustl.edu 37 19 17111251 17111251 + Silent SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 19 17111251 17111251 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.981 p.V327 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 84 0 0.00 73 15 17.05 STARD9 0 genome.wustl.edu 37 15 43010667 43010667 + Silent SNP G G T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 5b7452ec-e6c4-4a85-bd88-241c78b79428 2b7c2a25-5412-4497-98e6-a1871fb5dc33 15 43010667 43010667 G T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known silent c.13797 p.L4599 0.995 pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 47 0 0.00 42 4 8.70