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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF TADA1 0 genome.wustl.edu 37 1 166829516 166829516 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 1 166829516 166829516 C T SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.599 p.R200Q 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 71 0 0 63 11 14.8649 CACNA1E 0 genome.wustl.edu 37 1 181695296 181695296 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 1 181695296 181695296 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.2238 p.I746 0.993 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 23 0 0 24 6 20 CACNA1E 0 genome.wustl.edu 37 1 181724463 181724463 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 1 181724463 181724463 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3919 p.A1307T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 169 0 0 148 35 19.1257 LRRN2 0 genome.wustl.edu 37 1 204587180 204587180 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 1 204587180 204587180 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.1941 p.A647 0.039 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 24 0 0 31 4 11.4286 OR2T12 0 genome.wustl.edu 37 1 248457952 248457952 + Missense_Mutation SNP T T G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 1 248457952 248457952 T G SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.929 p.K310T 0.008 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 218 0 0 166 26 13.5417 TMPRSS13 0 genome.wustl.edu 37 11 117789342 117789342 + Missense_Mutation SNP T T C TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 11 117789342 117789342 T C SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known missense c.233 p.Q78R 0.000 pirsf_Peptidase_S1A_TMPRSS13 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 21 0 0 10 16 61.5385 SOX6 0 genome.wustl.edu 37 11 16340111 16340111 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 11 16340111 16340111 C T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.326 p.R109H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 171 1 0.581395 102 16 13.5593 OSBPL5 0 genome.wustl.edu 37 11 3114795 3114795 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 11 3114795 3114795 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.1908 p.T636 0.790 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 79 0 0 36 6 14.2857 EHBP1L1 0 genome.wustl.edu 37 11 65350742 65350742 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 11 65350742 65350742 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2599 p.R867C 0.003 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 36 0 0 28 10 26.3158 ANO6 0 genome.wustl.edu 37 12 45795715 45795715 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 12 45795715 45795715 G A SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known silent c.1524 p.T508 0.005 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 165 0 0 159 22 12.1547 ACSM4 0 genome.wustl.edu 37 12 7475048 7475048 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 12 7475048 7475048 G A SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.1036 p.G346R 0.977 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 59 0 0 53 7 11.6667 FRY 0 genome.wustl.edu 37 13 32745282 32745282 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 13 32745282 32745282 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.2026 p.D676N 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 88 0 0 84 14 14.2857 OR10G2 0 genome.wustl.edu 37 14 22102168 22102168 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 14 22102168 22102168 C T SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known silent c.831 p.A277 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 71 0 0 57 10 14.9254 OTX2 0 genome.wustl.edu 37 14 57268588 57268588 + Silent SNP A A C TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 14 57268588 57268588 A C SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known silent c.759 p.A253 1.000 NULL pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 120 0 0 61 7 10.2941 ATP10A 0 genome.wustl.edu 37 15 25972389 25972389 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 15 25972389 25972389 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.765 p.A255 0.187 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 67 0 0 67 5 6.94444 CIB2 0 genome.wustl.edu 37 15 78398116 78398116 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 15 78398116 78398116 G A SNP CIB2 ENST00000258930 human ensembl 74_37 -1 known silent c.507 p.F169 0.985 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB2 HGNC ENSG00000136425 41 0 0 52 6 10.3448 MYH2 0 genome.wustl.edu 37 17 10428137 10428137 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 17 10428137 10428137 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.4908 p.N1636 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 108 0 0 94 23 19.6581 MKS1 0 genome.wustl.edu 37 17 56293543 56293543 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 17 56293543 56293543 C T SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.323 p.R108H 0.996 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 150 0 0 121 19 13.5714 MPO 0 genome.wustl.edu 37 17 56350133 56350133 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 17 56350133 56350133 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.1864 p.R622C 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 72 0 0 68 11 13.9241 TP53 0 genome.wustl.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 17 7578370 7578370 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.559+1 e4+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 24 0 0 15 4 21.0526 ZNF43 0 genome.wustl.edu 37 19 21991815 21991815 + Missense_Mutation SNP A A G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 19 21991815 21991815 A G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1024 p.Y342H 0.014 pfam_Znf_C2H2,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 ZNF43 HGNC ENSG00000198521 89 0 0 88 8 8.33333 PSG8 0 genome.wustl.edu 37 19 43258502 43258502 + Missense_Mutation SNP A A T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 19 43258502 43258502 A T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.1226 p.M409K 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 314 0 0 268 76 22.093 CACNG6 0 genome.wustl.edu 37 19 54502911 54502911 + Missense_Mutation SNP A A G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 19 54502911 54502911 A G SNP CACNG6 ENST00000252729 human ensembl 74_37 +1 known missense c.430 p.I144V 0.498 prints_Claudin prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 233 0 0 252 31 10.9541 MISP 0 genome.wustl.edu 37 19 757262 757262 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 19 757262 757262 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.316 p.R106C 0.001 NULL NULL - no_errors MISP HGNC ENSG00000099812 18 0 0 19 4 17.3913 UGGT1 0 genome.wustl.edu 37 2 128922385 128922385 + Missense_Mutation SNP T T G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 2 128922385 128922385 T G SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.2907 p.F969L 0.999 pfam_UDP-g_GGtrans pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 60 0 0 37 9 19.5652 TTN 0 genome.wustl.edu 37 2 179424587 179424587 + Missense_Mutation SNP T T C TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 2 179424587 179424587 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78568 p.S26190G 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 157 1 0.632911 159 16 9.14286 FAM179A 0 genome.wustl.edu 37 2 29268228 29268228 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 2 29268228 29268228 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.2674 p.R892C 0.976 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 102 0 0 62 19 23.4568 ALLC 0 genome.wustl.edu 37 2 3749215 3749215 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 2 3749215 3749215 C T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.964 p.P322S 0.922 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 41 0 0 26 6 18.75 POLR1A 0 genome.wustl.edu 37 2 86308050 86308050 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 2 86308050 86308050 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.975 p.T325 0.009 pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 78 0 0 90 10 10 DIDO1 0 genome.wustl.edu 37 20 61513050 61513050 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 20 61513050 61513050 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4258 p.E1420K 0.410 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 125 0 0 107 11 9.32203 UFD1L 0 genome.wustl.edu 37 22 19445627 19445627 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 22 19445627 19445627 G A SNP UFD1L ENST00000263202 human ensembl 74_37 -1 known silent c.531 p.D177 0.998 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 95 0 0 54 11 16.9231 PISD 0 genome.wustl.edu 37 22 32017095 32017095 + Missense_Mutation SNP A A G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 22 32017095 32017095 A G SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.731 p.V244A 1.000 pfam_PS_Dcarbxylase,tigrfam_PS_decarb pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 55 0 0 28 8 22.2222 SREBF2 0 genome.wustl.edu 37 22 42271622 42271622 + Missense_Mutation SNP A A G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 22 42271622 42271622 A G SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.1280 p.N427S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 157 1 0.632911 140 18 11.3924 TP63 0 genome.wustl.edu 37 3 189612028 189612028 + Nonsense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 3 189612028 189612028 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known nonsense c.1780 p.R594* 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 74 0 0 55 10 15.3846 RARB 0 genome.wustl.edu 37 3 25637920 25637920 + Missense_Mutation SNP G G C TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 3 25637920 25637920 G C SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.1181 p.R394P 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_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 110 0 0 95 18 15.9292 COL7A1 0 genome.wustl.edu 37 3 48629354 48629354 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 3 48629354 48629354 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1334 p.R445Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 76 0 0 39 7 15.2174 LAMB2 0 genome.wustl.edu 37 3 49159423 49159423 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 3 49159423 49159423 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4877 p.R1626Q 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 76 0 0 42 17 28.8136 ITIH1 0 genome.wustl.edu 37 3 52824909 52824909 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 3 52824909 52824909 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known silent c.2466 p.R822 0.290 pfam_ITI_HC_C,superfamily_PsdUridine_synth_cat_dom pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 95 0 0 71 13 15.4762 ZNF732 0 genome.wustl.edu 37 4 266387 266387 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 4 266387 266387 G A SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.259 p.P87S 0.181 NULL 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 ZNF732 HGNC ENSG00000186777 23 0 0 24 2 7.69231 NUP54 0 genome.wustl.edu 37 4 77065318 77065318 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 4 77065318 77065318 C T SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known silent c.279 p.Q93 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 251 0 0 219 34 13.4387 PCDHB7 0 genome.wustl.edu 37 5 140553745 140553745 + Silent SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 5 140553745 140553745 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1329 p.D443 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 244 1 0.408163 138 24 14.8148 RAET1E 0 genome.wustl.edu 37 6 150211239 150211239 + Missense_Mutation SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 6 150211239 150211239 G A SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known missense c.128 p.S43F 0.005 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 52 0 0 74 7 8.64198 SRRT 0 genome.wustl.edu 37 7 100481989 100481989 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 7 100481989 100481989 C T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.758 p.A253V 1.000 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 22 0 0 29 3 9.375 ATP6V0A4 0 genome.wustl.edu 37 7 138447716 138447716 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 7 138447716 138447716 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 110 0 0 82 9 9.89011 CRHR2 0 genome.wustl.edu 37 7 30695259 30695259 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 7 30695259 30695259 G A SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known silent c.1071 p.P357 0.354 pfam_GPCR_2_secretin-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 151 0 0 108 16 12.9032 RANBP6 0 genome.wustl.edu 37 9 6015394 6015394 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 9 6015394 6015394 C T SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.214 p.A72T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 125 1 0.793651 90 16 15.0943 LAMP2 0 genome.wustl.edu 37 X 119575715 119575715 + Missense_Mutation SNP C C G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 119575715 119575715 C G SNP LAMP2 ENST00000434600 human ensembl 74_37 -1 known missense c.963 p.W321C 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 132 0 0 93 16 14.6789 FRMD7 0 genome.wustl.edu 37 X 131212786 131212786 + Missense_Mutation SNP T T C TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 131212786 131212786 T C SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known missense c.1259 p.D420G 0.461 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 213 0 0 182 26 12.5 SH3KBP1 0 genome.wustl.edu 37 X 19725084 19725084 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 19725084 19725084 C T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.305 p.R102Q 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 36 0 0 22 5 18.5185 MXRA5 0 genome.wustl.edu 37 X 3229245 3229245 + Silent SNP G G A TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 3229245 3229245 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.6999 p.D2333 0.950 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 172 1 0.578035 104 23 18.1102 BRWD3 0 genome.wustl.edu 37 X 79975125 79975125 + Missense_Mutation SNP C C T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 79975125 79975125 C T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1907 p.G636E 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 140 0 0 109 9 7.62712 NAP1L3 0 genome.wustl.edu 37 X 92926799 92926799 + Missense_Mutation SNP T T G TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a X 92926799 92926799 T G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1505 p.K502T 0.003 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 42 0 0 41 8 16.3265 ALG10 0 genome.wustl.edu 37 12 34179403 34179404 + Frame_Shift_Ins INS - - T TCGA-BR-4183-01A-02D-1126-08 TCGA-BR-4183-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08e915c4-e7ca-40b9-9175-8967169c7019 f03b244a-cd1c-4101-b0fe-2ced7638bb2a 12 34179403 34179404 - T INS ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_ins c.975_976 p.V327fs 0.003:0.069 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 177 0 0 197 17 7.94393