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 COL11A1 0 genome.wustl.edu 37 1 103343634 103343634 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 103343634 103343634 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5398 p.F1800V 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 58 0 0 80 12 13.0435 KCNA3 0 genome.wustl.edu 37 1 111217049 111217049 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 111217049 111217049 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.383 p.T128M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 199 0 0 136 24 15 ITGA10 0 genome.wustl.edu 37 1 145537443 145537443 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 145537443 145537443 G A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.2453 p.R818Q 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 442 1 0.225734 442 124 21.9081 CD1A 0 genome.wustl.edu 37 1 158227231 158227231 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 158227231 158227231 T G SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.904 p.F302V 0.001 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 203 0 0 276 42 13.2075 OR10Z1 0 genome.wustl.edu 37 1 158576540 158576540 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 158576540 158576540 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.312 p.S104 0.104 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 215 0 0 321 25 7.22543 SPTA1 0 genome.wustl.edu 37 1 158612732 158612732 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 158612732 158612732 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4477 p.R1493W 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 62 0 0 83 12 12.6316 OR6K2 0 genome.wustl.edu 37 1 158670422 158670422 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 158670422 158670422 G T SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 109 0 0 126 13 9.35252 DDR2 0 genome.wustl.edu 37 1 162725000 162725000 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 162725000 162725000 C T SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.472 p.P158S 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 93 0 0 133 15 10.1351 F5 0 genome.wustl.edu 37 1 169510379 169510379 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 169510379 169510379 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.3949 p.G1317S 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 442 0 0 601 52 7.96325 TNR 0 genome.wustl.edu 37 1 175325573 175325573 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 175325573 175325573 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3000 p.D1000 0.670 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 TNR HGNC ENSG00000116147 95 0 0 119 10 7.75194 KIAA1614 0 genome.wustl.edu 37 1 180886990 180886990 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 180886990 180886990 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.1001 p.R334Q 0.002 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 80 0 0 106 11 9.40171 F13B 0 genome.wustl.edu 37 1 197026303 197026303 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 197026303 197026303 C A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1011 p.E337D 0.047 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 51 0 0 62 15 19.4805 CACNA1S 0 genome.wustl.edu 37 1 201017715 201017715 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 201017715 201017715 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4436 p.T1479M 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 CACNA1S HGNC ENSG00000081248 69 0 0 89 10 10.101 TNNI1 0 genome.wustl.edu 37 1 201382217 201382217 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 201382217 201382217 C A SNP TNNI1 ENST00000336092 human ensembl 74_37 -1 known missense c.222 p.E74D 1.000 pfam_Troponin pfam_Troponin - no_errors TNNI1 HGNC ENSG00000159173 504 0 0 486 114 19 NAV1 0 genome.wustl.edu 37 1 201786280 201786280 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 201786280 201786280 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.5405 p.P1802L 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 92 0 0 103 10 8.84956 ANGEL2 0 genome.wustl.edu 37 1 213181648 213181648 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 213181648 213181648 A G SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known silent c.546 p.D182 0.943 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 92 0 0 117 30 20.4082 CELA3A 0 genome.wustl.edu 37 1 22329534 22329534 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 22329534 22329534 C T SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known missense c.82 p.R28C 0.004 superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 126 0 0 130 10 7.14286 RYR2 0 genome.wustl.edu 37 1 237604732 237604732 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 237604732 237604732 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.1113 p.T371 0.923 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif 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 - no_errors RYR2 HGNC ENSG00000198626 96 0 0 117 19 13.9706 OR1C1 0 genome.wustl.edu 37 1 247921688 247921688 + Silent SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 247921688 247921688 T G SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 21 0 0 41 3 6.81818 TRAPPC3 0 genome.wustl.edu 37 1 36614866 36614866 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 36614866 36614866 G A SNP TRAPPC3 ENST00000497251 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors TRAPPC3 HGNC ENSG00000054116 28 0 0 23 8 25.8065 MAP7D1 0 genome.wustl.edu 37 1 36636854 36636854 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 36636854 36636854 G A SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.329 p.R110Q 0.952 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 71 0 0 64 12 15.7895 MACF1 0 genome.wustl.edu 37 1 39801222 39801222 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 39801222 39801222 A G SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.9073 p.T3025A 0.002 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 80 0 0 111 11 9.01639 MROH7-TTC4 0 genome.wustl.edu 37 1 55145625 55145625 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 55145625 55145625 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.2288 p.R763H 0.932 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 301 0 0 246 41 14.2857 NEBL 0 genome.wustl.edu 37 10 21124467 21124467 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 21124467 21124467 T C SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.1424 p.K475R 0.770 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 168 0 0 271 18 6.22837 MYO3A 0 genome.wustl.edu 37 10 26457648 26457648 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 26457648 26457648 T G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3119 p.L1040R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 44 0 0 78 9 10.3448 ARMC4 0 genome.wustl.edu 37 10 28270418 28270418 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 28270418 28270418 A C SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.913 p.F305V 0.991 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 48 0 0 96 12 11.1111 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 45 0 0 52 4 7.14286 OR13A1 0 genome.wustl.edu 37 10 45799057 45799057 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 45799057 45799057 C T SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.814 p.A272T 0.095 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 103 0 0 94 6 6 BICC1 0 genome.wustl.edu 37 10 60273052 60273052 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 60273052 60273052 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.149 p.R50H 1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 69 0 0 83 11 11.7021 FAM13C 0 genome.wustl.edu 37 10 61011428 61011428 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 61011428 61011428 A C SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1541 p.L514R 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 105 0 0 146 20 12.0482 PRKCQ 0 genome.wustl.edu 37 10 6557055 6557055 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 6557055 6557055 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.43 p.G15R 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 122 0 0 153 9 5.55556 PLCE1 0 genome.wustl.edu 37 10 96030337 96030337 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 10 96030337 96030337 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4484 p.R1495Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 118 0 0 126 12 8.69565 MMP3 0 genome.wustl.edu 37 11 102713534 102713534 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 102713534 102713534 C T SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known silent c.219 p.L73 0.543 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 39 0 0 52 6 10.3448 PDGFD 0 genome.wustl.edu 37 11 103780501 103780501 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 103780501 103780501 T C SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.1034 p.K345R 1.000 pfam_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 109 0 0 159 23 12.6374 ALKBH8 0 genome.wustl.edu 37 11 107423922 107423922 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 107423922 107423922 T A SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known missense c.516 p.K172N 1.000 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 42 0 0 70 16 18.6047 KMT2A 0 genome.wustl.edu 37 11 118347547 118347547 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 118347547 118347547 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.3184 p.S1062P 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 92 0 0 127 11 7.97101 SPON1 0 genome.wustl.edu 37 11 14282168 14282168 + RNA SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 14282168 14282168 G C SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 96 0 0 102 12 10.5263 PRR5L 0 genome.wustl.edu 37 11 36422752 36422752 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 36422752 36422752 G T SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.81 p.M27I 1.000 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 48 0 0 52 6 10.3448 RAG1 0 genome.wustl.edu 37 11 36597271 36597271 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 36597271 36597271 A G SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.2417 p.E806G 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 104 0 0 144 8 5.26316 LRRC4C 0 genome.wustl.edu 37 11 40137656 40137656 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 40137656 40137656 C A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.187 p.V63F 0.996 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 45 0 0 66 8 10.8108 OR4C12 0 genome.wustl.edu 37 11 50003778 50003778 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 50003778 50003778 T G SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.260 p.K87T 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 122 0 0 172 26 13.1313 OR4C15 0 genome.wustl.edu 37 11 55321970 55321970 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 55321970 55321970 A C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.188 p.E63A 0.948 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 138 0 0 209 30 12.5523 UBQLNL 0 genome.wustl.edu 37 11 5537169 5537169 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 5537169 5537169 T C SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.503 p.H168R 0.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 78 0 0 68 13 16.0494 OR5J2 0 genome.wustl.edu 37 11 55944903 55944903 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 55944903 55944903 A C SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.810 p.Q270H 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 87 0 0 135 22 14.0127 AHNAK 0 genome.wustl.edu 37 11 62286163 62286163 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 62286163 62286163 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.15726 p.G5242 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 180 0 0 208 24 10.3448 AHNAK 0 genome.wustl.edu 37 11 62294047 62294047 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 62294047 62294047 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.7842 p.D2614 0.986 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 319 0 0 408 45 9.93377 APBB1 0 genome.wustl.edu 37 11 6432344 6432344 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 6432344 6432344 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.234 p.R78 0.996 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 316 0 0 300 36 10.7143 OR10A4 0 genome.wustl.edu 37 11 6898769 6898769 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 6898769 6898769 A T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.891 p.E297D 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 128 0 0 185 22 10.628 ZNF215 0 genome.wustl.edu 37 11 6977489 6977489 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 6977489 6977489 A G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known silent c.1281 p.K427 0.086 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 54 0 0 85 17 16.6667 MAP6 0 genome.wustl.edu 37 11 75298497 75298497 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 75298497 75298497 T C SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known silent c.2049 p.Q683 0.000 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 125 0 0 137 53 27.8947 CCDC83 0 genome.wustl.edu 37 11 85630404 85630404 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 85630404 85630404 T G SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.1186 p.L396V 0.005 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 98 0 0 141 22 13.4969 ACACB 0 genome.wustl.edu 37 12 109637317 109637317 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 109637317 109637317 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.2738 p.G913E 0.997 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 156 0 0 156 21 11.8644 CLIP1 0 genome.wustl.edu 37 12 122826228 122826228 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 122826228 122826228 T A SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.1523 p.E508V 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 110 0 0 150 24 13.7931 SLCO1B3 0 genome.wustl.edu 37 12 21033890 21033890 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 21033890 21033890 G T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1433 p.G478V 1.000 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 111 0 0 149 19 11.3095 LRRK2 0 genome.wustl.edu 37 12 40716964 40716964 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 40716964 40716964 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5512 p.D1838Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 25 0 0 57 5 8.06452 KRT73 0 genome.wustl.edu 37 12 53010119 53010119 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 53010119 53010119 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.493 p.E165K 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 113 0 0 126 16 11.2676 KRT2 0 genome.wustl.edu 37 12 53043714 53043714 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 53043714 53043714 A C SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.845 p.F282C 0.997 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 80 0 0 109 26 19.2593 CS 0 genome.wustl.edu 37 12 56679728 56679728 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 56679728 56679728 G A SNP CS ENST00000351328 human ensembl 74_37 -1 known missense c.173 p.T58M 0.994 superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk - no_errors CS HGNC ENSG00000062485 298 0 0 401 64 13.7634 TIMELESS 0 genome.wustl.edu 37 12 56826160 56826160 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 56826160 56826160 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 147 0 0 157 31 16.4894 OTOGL 0 genome.wustl.edu 37 12 80726827 80726827 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 80726827 80726827 T C SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.4364 p.M1455T 0.473 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 14 0 0 14 3 17.6471 PPFIA2 0 genome.wustl.edu 37 12 81657026 81657026 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 81657026 81657026 T G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3699 p.R1233S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 18 0 0 25 3 10.7143 MGAT4C 0 genome.wustl.edu 37 12 86373333 86373333 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 86373333 86373333 T C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.1258 p.K420E 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 42 0 0 49 4 7.54717 NALCN 0 genome.wustl.edu 37 13 101768879 101768879 + RNA SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 101768879 101768879 T G SNP NALCN ENST00000467264 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors NALCN HGNC ENSG00000102452 14 0 0 27 7 20.5882 FGF14 0 genome.wustl.edu 37 13 102521141 102521141 + Silent SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 102521141 102521141 A C SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.357 p.V119 0.998 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 93 0 0 122 23 15.8621 SACS 0 genome.wustl.edu 37 13 23907444 23907444 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 23907444 23907444 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10571 p.L3524S 0.523 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 25 0 0 32 4 11.1111 KIAA0226L 0 genome.wustl.edu 37 13 46946450 46946450 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 46946450 46946450 A T SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.161 p.I54N 0.991 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 67 0 0 69 7 9.21053 RBM26 0 genome.wustl.edu 37 13 79940921 79940921 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 79940921 79940921 T C SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known missense c.982 p.M328V 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 59 0 0 62 19 23.4568 SLITRK1 0 genome.wustl.edu 37 13 84453566 84453566 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 84453566 84453566 A G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.2077 p.S693P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 33 0 0 49 5 9.25926 EVL 0 genome.wustl.edu 37 14 100604082 100604082 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 100604082 100604082 C T SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.1037 p.P346L 1.000 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 159 0 0 181 18 9.04523 OR4M1 0 genome.wustl.edu 37 14 20248972 20248972 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 20248972 20248972 T C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.491 p.V164A 0.901 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 201 0 0 266 36 11.9205 DHRS4L1 0 genome.wustl.edu 37 14 24507075 24507075 + RNA SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 24507075 24507075 G C SNP DHRS4L1 ENST00000558682 human ensembl 74_37 +1 known rna NULL NULL 0.250 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 49 0 0 38 5 11.6279 ZBTB25 0 genome.wustl.edu 37 14 64953979 64953979 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 64953979 64953979 G A SNP ZBTB25 ENST00000394715 human ensembl 74_37 -1 known nonsense c.970 p.Q324* 1.000 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 ZBTB25 HGNC ENSG00000089775 160 0 0 184 25 11.9617 FNTB 0 genome.wustl.edu 37 14 65521395 65521395 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 65521395 65521395 C T SNP FNTB ENST00000447296 human ensembl 74_37 +1 known silent c.1272 p.P424 0.012 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 17 0 0 21 6 22.2222 ADAM21 0 genome.wustl.edu 37 14 70926219 70926219 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 70926219 70926219 G A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.2003 p.G668E 1.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 66 0 0 78 8 9.30233 SYNDIG1L 0 genome.wustl.edu 37 14 74876225 74876225 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 74876225 74876225 C G SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.223 p.G75R 0.998 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 55 0 0 39 11 22 PGF 0 genome.wustl.edu 37 14 75416197 75416197 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 75416197 75416197 C T SNP PGF ENST00000405431 human ensembl 74_37 -1 known missense c.178 p.D60N 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PGF HGNC ENSG00000119630 76 0 0 58 8 12.1212 UNC79 0 genome.wustl.edu 37 14 94109905 94109905 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 94109905 94109905 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.6089 p.C2030Y 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 76 0 0 109 20 15.5039 MKRN3 0 genome.wustl.edu 37 15 23811300 23811300 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 23811300 23811300 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.008 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 110 0 0 100 15 13.0435 ATP10A 0 genome.wustl.edu 37 15 25958993 25958993 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 25958993 25958993 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2172 p.V724 0.993 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 125 0 0 111 11 9.01639 RYR3 0 genome.wustl.edu 37 15 33916068 33916068 + Nonsense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 33916068 33916068 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.2418 p.Y806* 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 125 0 0 141 19 11.875 RYR3 0 genome.wustl.edu 37 15 33993213 33993213 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 33993213 33993213 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6415 p.V2139L 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 46 0 0 40 12 23.0769 AQR 0 genome.wustl.edu 37 15 35155120 35155120 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 35155120 35155120 C A SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.3977 p.R1326L 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 57 0 0 88 15 14.5631 DYX1C1 0 genome.wustl.edu 37 15 55724773 55724773 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 55724773 55724773 T C SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.1075 p.T359A 0.001 pfscan_TPR-contain_dom pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 66 0 0 113 11 8.87097 ADAMTSL3 0 genome.wustl.edu 37 15 84611673 84611673 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 15 84611673 84611673 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.2329 p.G777R 0.894 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 67 0 0 85 8 8.60215 SNX29 0 genome.wustl.edu 37 16 12142361 12142361 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 12142361 12142361 C T SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.632 p.T211M 0.999 NULL pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 118 0 0 111 38 25.5034 LCMT1 0 genome.wustl.edu 37 16 25137299 25137299 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 25137299 25137299 G C SNP LCMT1 ENST00000380962 human ensembl 74_37 +1 known missense c.128 p.S43T 0.000 NULL NULL - no_errors LCMT1 HGNC ENSG00000205629 18 0 0 39 5 11.3636 GTF3C1 0 genome.wustl.edu 37 16 27506768 27506768 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 27506768 27506768 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2396 p.R799H 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 24 0 0 36 5 12.1951 ZNF423 0 genome.wustl.edu 37 16 49672521 49672521 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 49672521 49672521 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.542 p.R181H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 49 0 0 38 13 25.4902 IRX6 0 genome.wustl.edu 37 16 55361588 55361588 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 55361588 55361588 C A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.504 p.H168Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 79 0 0 79 26 24.7619 CDH11 0 genome.wustl.edu 37 16 65005574 65005574 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 65005574 65005574 T A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1550 p.D517V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 70 0 0 90 5 5.26316 IST1 0 genome.wustl.edu 37 16 71955270 71955270 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 71955270 71955270 G A SNP IST1 ENST00000535424 human ensembl 74_37 +1 known missense c.505 p.A169T 1.000 pfam_DUF292_euk pfam_DUF292_euk - no_errors IST1 HGNC ENSG00000182149 55 0 0 69 5 6.75676 FOXF1 0 genome.wustl.edu 37 16 86545019 86545019 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 16 86545019 86545019 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.844 p.A282T 0.955 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 31 0 0 37 5 11.9048 SLC5A10 0 genome.wustl.edu 37 17 18862516 18862516 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 18862516 18862516 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known silent c.252 p.A84 0.086 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 57 0 0 58 7 10.7692 C17orf98 0 genome.wustl.edu 37 17 36997469 36997469 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 36997469 36997469 G A SNP C17orf98 ENST00000398575 human ensembl 74_37 -1 known silent c.174 p.H58 0.761 NULL NULL - no_errors C17orf98 HGNC ENSG00000214556 88 0 0 123 12 8.88889 CCR7 0 genome.wustl.edu 37 17 38711389 38711389 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 38711389 38711389 G A SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known missense c.742 p.R248C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 104 0 0 114 14 10.9375 GFAP 0 genome.wustl.edu 37 17 42992568 42992568 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 42992568 42992568 G A SNP GFAP ENST00000253408 human ensembl 74_37 -1 known missense c.287 p.A96V 0.966 pfam_IF pfam_IF - no_errors GFAP HGNC ENSG00000131095 68 0 0 86 5 5.49451 MYCBPAP 0 genome.wustl.edu 37 17 48594780 48594780 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 48594780 48594780 C A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.460 p.P154T 0.051 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 154 0 0 200 23 10.3139 TP53 0 genome.wustl.edu 37 17 7579311 7579311 + Splice_Site SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 7579311 7579311 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.375+1 e3+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 154 0 0 102 34 25 ENDOV 0 genome.wustl.edu 37 17 78389434 78389434 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 78389434 78389434 G A SNP ENDOV ENST00000521847 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ENDOV HGNC ENSG00000173818 24 0 0 30 2 6.25 CDH2 0 genome.wustl.edu 37 18 25572801 25572801 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 18 25572801 25572801 A T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1162 p.Y388N 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 32 0 0 45 6 11.7647 TCEB3B 0 genome.wustl.edu 37 18 44559975 44559975 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 18 44559975 44559975 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1661 p.V554A 0.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 123 0 0 75 20 21.0526 TCEB3B 0 genome.wustl.edu 37 18 44559978 44559978 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 18 44559978 44559978 C G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1658 p.W553S 0.001 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 126 0 0 78 22 22 CDH19 0 genome.wustl.edu 37 18 64172366 64172366 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 18 64172366 64172366 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.2002 p.R668C 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 184 0 0 265 49 15.6051 DSEL 0 genome.wustl.edu 37 18 65181696 65181696 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 18 65181696 65181696 G T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.180 p.F60L 0.650 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 68 0 0 84 11 11.5789 ABCA7 0 genome.wustl.edu 37 19 1056917 1056917 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 1056917 1056917 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.4598 p.S1533L 0.993 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 217 0 0 193 38 16.4502 ZNF799 0 genome.wustl.edu 37 19 12502756 12502756 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 12502756 12502756 G A SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.456 p.Y152 0.000 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 ZNF799 HGNC ENSG00000196466 129 0 0 161 20 11.0497 ZNF253 0 genome.wustl.edu 37 19 20002426 20002426 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 20002426 20002426 G C SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.370 p.V124L 0.012 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 ZNF253 HGNC ENSG00000256771 82 0 0 107 13 10.8333 FAM98C 0 genome.wustl.edu 37 19 38899405 38899405 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 38899405 38899405 C T SNP FAM98C ENST00000588262 human ensembl 74_37 +1 putative missense c.532 p.R178C 0.000 NULL NULL - no_errors FAM98C HGNC ENSG00000130244 108 0 0 135 20 12.9032 PSG6 0 genome.wustl.edu 37 19 43420503 43420503 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 43420503 43420503 C G SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.201 p.W67C 0.385 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 284 0 0 390 55 12.3596 ZNF285 0 genome.wustl.edu 37 19 44891003 44891003 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 44891003 44891003 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.1404 p.S468 0.000 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 ZNF285 HGNC ENSG00000267508 75 0 0 112 11 8.94309 ZNF285 0 genome.wustl.edu 37 19 44891010 44891010 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 44891010 44891010 G C SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1397 p.A466G 0.000 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 ZNF285 HGNC ENSG00000267508 71 0 0 116 11 8.66142 BCAM 0 genome.wustl.edu 37 19 45322967 45322967 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 45322967 45322967 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.1747 p.R583W 0.001 NULL pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 45 0 0 29 14 32.5581 RASIP1 0 genome.wustl.edu 37 19 49224062 49224062 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 49224062 49224062 G C SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.2885 p.S962C 0.998 NULL pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 266 0 0 285 51 15.1786 ZNF470 0 genome.wustl.edu 37 19 57088195 57088195 + Nonsense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 57088195 57088195 C A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known nonsense c.398 p.S133* 0.002 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 ZNF470 HGNC ENSG00000197016 73 0 0 122 16 11.5942 ZNF772 0 genome.wustl.edu 37 19 57988660 57988660 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 57988660 57988660 C T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.18 p.P6 0.001 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 ZNF772 HGNC ENSG00000197128 253 1 0.393701 302 19 5.919 BSG 0 genome.wustl.edu 37 19 581474 581474 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 581474 581474 G A SNP BSG ENST00000333511 human ensembl 74_37 +1 known missense c.952 p.V318M 0.983 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 26 0 0 24 2 7.69231 ZNF586 0 genome.wustl.edu 37 19 58290568 58290568 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 58290568 58290568 C T SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known missense c.613 p.R205C 0.950 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 ZNF586 HGNC ENSG00000083828 121 0 0 138 25 15.3374 ACTL9 0 genome.wustl.edu 37 19 8808001 8808001 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 8808001 8808001 C T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1051 p.E351K 0.037 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 119 0 0 92 9 8.91089 MUC16 0 genome.wustl.edu 37 19 9071824 9071824 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 19 9071824 9071824 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15622 p.S5208G 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 248 0 0 250 48 16.1074 MARCO 0 genome.wustl.edu 37 2 119699881 119699881 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 119699881 119699881 G A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.5 p.R2K 0.178 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 60 0 0 81 10 10.989 NCKAP5 0 genome.wustl.edu 37 2 133542677 133542677 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 133542677 133542677 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.1707 p.G569 0.007 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 99 0 0 117 12 9.30233 LRP1B 0 genome.wustl.edu 37 2 141081582 141081582 + Nonsense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 141081582 141081582 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.12394 p.G4132* 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 52 0 0 97 14 12.6126 LRP1B 0 genome.wustl.edu 37 2 141806706 141806706 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 141806706 141806706 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1638 p.D546E 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 123 0 0 213 33 13.4146 BAZ2B 0 genome.wustl.edu 37 2 160206507 160206507 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 160206507 160206507 A G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.4575 p.S1525 0.071 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 145 0 0 152 38 20 TTN 0 genome.wustl.edu 37 2 179427323 179427323 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 179427323 179427323 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75832 p.Y25278H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 63 0 0 87 19 17.9245 KCNS3 0 genome.wustl.edu 37 2 18113498 18113498 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 18113498 18113498 A G SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.1223 p.K408R 1.000 pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 82 0 0 118 20 14.4928 CALCRL 0 genome.wustl.edu 37 2 188211006 188211006 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 188211006 188211006 C A SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.1291 p.G431C 0.788 prints_GPCR_2_CGRP1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 31 0 0 50 7 12.2807 MAP2 0 genome.wustl.edu 37 2 210561456 210561456 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 210561456 210561456 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4371 p.E1457D 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 56 0 0 68 11 13.9241 APOB 0 genome.wustl.edu 37 2 21226058 21226058 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 21226058 21226058 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.12236 p.G4079E 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 231 0 0 269 86 24.2254 FAM124B 0 genome.wustl.edu 37 2 225266233 225266233 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 225266233 225266233 C T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.253 p.V85I 0.002 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 93 0 0 62 9 12.6761 COL4A4 0 genome.wustl.edu 37 2 227920702 227920702 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 227920702 227920702 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2675 p.P892L 0.001 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 95 0 0 76 4 5 PER2 0 genome.wustl.edu 37 2 239170935 239170935 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 239170935 239170935 C A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.1204 p.A402S 0.948 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 83 0 0 95 12 11.215 PPP1R7 0 genome.wustl.edu 37 2 242089932 242089932 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 242089932 242089932 G A SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known missense c.22 p.G8R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 25 0 0 33 9 21.4286 C2orf71 0 genome.wustl.edu 37 2 29297042 29297042 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 29297042 29297042 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.86 p.R29Q 0.918 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 84 0 0 130 20 13.3333 PROKR1 0 genome.wustl.edu 37 2 68882618 68882618 + Silent SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 68882618 68882618 T G SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known silent c.1092 p.S364 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 58 0 0 80 7 8.04598 ANTXR1 0 genome.wustl.edu 37 2 69297834 69297834 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 69297834 69297834 A C SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.352 p.T118P 1.000 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 88 0 0 120 16 11.7647 KIF16B 0 genome.wustl.edu 37 20 16410511 16410511 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 16410511 16410511 T G SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.1419 p.L473F 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 32 0 0 58 6 9.375 RRBP1 0 genome.wustl.edu 37 20 17639648 17639648 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 17639648 17639648 G C SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.1505 p.A502G 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 14 0 0 15 6 28.5714 RRBP1 0 genome.wustl.edu 37 20 17639650 17639650 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 17639650 17639650 C T SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.1503 p.K501 0.023 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 14 0 0 14 6 30 TTLL9 0 genome.wustl.edu 37 20 30526998 30526998 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 30526998 30526998 G T SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.1172 p.G391V 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 77 0 0 95 9 8.65385 MAFB 0 genome.wustl.edu 37 20 39317195 39317195 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 39317195 39317195 G A SNP MAFB ENST00000373313 human ensembl 74_37 -1 known missense c.296 p.A99V 1.000 pfam_Maf_TF_N pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 106 0 0 135 12 8.16327 PTPRT 0 genome.wustl.edu 37 20 40770578 40770578 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 40770578 40770578 T A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2804 p.N935I 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,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 216 0 0 360 26 6.73575 PTPRT 0 genome.wustl.edu 37 20 40770584 40770584 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 40770584 40770584 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2798 p.N933T 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,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 212 0 0 360 24 6.25 PTPRT 0 genome.wustl.edu 37 20 40864897 40864897 + Silent SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 40864897 40864897 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2371 p.R791 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 91 0 0 198 13 6.16114 KCNQ2 0 genome.wustl.edu 37 20 62038613 62038613 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 20 62038613 62038613 G T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.2027 p.P676Q 0.999 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 62 0 0 66 11 14.2857 NCAM2 0 genome.wustl.edu 37 21 22906909 22906909 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 21 22906909 22906909 A T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2334 p.R778S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 40 0 0 43 6 12.2449 RCAN1 0 genome.wustl.edu 37 21 35893851 35893851 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 21 35893851 35893851 C A SNP RCAN1 ENST00000313806 human ensembl 74_37 -1 known missense c.532 p.A178S 0.993 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN1 HGNC ENSG00000159200 59 0 0 45 18 28.5714 CECR2 0 genome.wustl.edu 37 22 18020105 18020105 + Nonsense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 22 18020105 18020105 T A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel nonsense c.1434 p.Y478* 0.995 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 24 0 0 28 3 9.67742 VPREB1 0 genome.wustl.edu 37 22 22599607 22599607 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 22 22599607 22599607 A G SNP VPREB1 ENST00000403807 human ensembl 74_37 +1 known missense c.296 p.Y99C 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB1 HGNC ENSG00000169575 93 0 0 68 12 15 BMS1P20 0 genome.wustl.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 22 22664186 22664186 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 101 1 0.980392 121 7 5.46875 ADORA2A 0 genome.wustl.edu 37 22 24837199 24837199 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 22 24837199 24837199 T C SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known silent c.981 p.H327 0.009 prints_Adeno_A2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 48 0 0 38 5 11.6279 CD80 0 genome.wustl.edu 37 3 119263627 119263627 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 119263627 119263627 C T SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.188 p.R63H 0.130 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 56 0 0 98 21 17.6471 ADPRH 0 genome.wustl.edu 37 3 119305464 119305464 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 119305464 119305464 T A SNP ADPRH ENST00000357003 human ensembl 74_37 +1 known missense c.631 p.Y211N 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 78 0 0 109 31 22.1429 STXBP5L 0 genome.wustl.edu 37 3 120959317 120959317 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 120959317 120959317 C A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1363 p.L455I 0.983 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 31 0 0 76 5 6.17284 CASR 0 genome.wustl.edu 37 3 121980735 121980735 + Silent SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 121980735 121980735 C A SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.853 p.R285 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 122 0 0 155 15 8.82353 ADCY5 0 genome.wustl.edu 37 3 123019008 123019008 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 123019008 123019008 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.2859 p.T953 0.974 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 83 0 0 87 11 11.2245 MBD4 0 genome.wustl.edu 37 3 129156711 129156711 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 129156711 129156711 G A SNP MBD4 ENST00000249910 human ensembl 74_37 -1 known missense c.187 p.P63S 0.000 superfamily_DNA-bd_dom,pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 158 0 0 200 35 14.8936 IQSEC1 0 genome.wustl.edu 37 3 12983126 12983126 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 12983126 12983126 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.305 p.R102H 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 31 0 0 23 7 23.3333 CNTN6 0 genome.wustl.edu 37 3 1363393 1363393 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 1363393 1363393 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.821 p.K274R 0.758 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 166 0 0 207 20 8.81057 PLOD2 0 genome.wustl.edu 37 3 145838953 145838953 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 145838953 145838953 T C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.284 p.E95G 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 53 0 0 67 17 20.2381 RFTN1 0 genome.wustl.edu 37 3 16535246 16535246 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 16535246 16535246 G A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.131 p.T44M 0.994 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 301 0 0 456 27 5.59006 NAALADL2 0 genome.wustl.edu 37 3 174814909 174814909 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 174814909 174814909 G A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.373 p.V125I 0.738 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 100 0 0 203 35 14.7059 LRRC15 0 genome.wustl.edu 37 3 194080940 194080940 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 194080940 194080940 C T SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.851 p.G284E 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 116 0 0 107 7 6.14035 TRIM71 0 genome.wustl.edu 37 3 32933115 32933115 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 32933115 32933115 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.2419 p.R807C 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 178 0 0 159 36 18.4615 TRAK1 0 genome.wustl.edu 37 3 42244001 42244001 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 42244001 42244001 C T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.1327 p.R443W 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 97 0 0 100 7 6.54206 KLHL40 0 genome.wustl.edu 37 3 42727916 42727916 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 42727916 42727916 G A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.806 p.R269Q 0.996 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 101 0 0 85 27 24.1071 COL7A1 0 genome.wustl.edu 37 3 48608296 48608296 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 48608296 48608296 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.7270 p.R2424W 1.000 pfam_Collagen 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 18 0 0 24 3 11.1111 BSN 0 genome.wustl.edu 37 3 49688122 49688122 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 49688122 49688122 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.1596 p.P532 0.003 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 234 0 0 239 46 16.1404 ABHD14B 0 genome.wustl.edu 37 3 52005676 52005676 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 52005676 52005676 C T SNP ABHD14B ENST00000361143 human ensembl 74_37 -1 known missense c.11 p.S4N 0.000 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 28 0 0 22 2 8.33333 PRICKLE2 0 genome.wustl.edu 37 3 64133061 64133061 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 64133061 64133061 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1105 p.V369I 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 199 0 0 169 22 11.5183 SSUH2 0 genome.wustl.edu 37 3 8673781 8673781 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 8673781 8673781 G T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known silent c.354 p.T118 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 74 0 0 96 35 26.7176 BRPF1 0 genome.wustl.edu 37 3 9781151 9781151 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 9781151 9781151 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known nonsense c.1068 p.W356* 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 350 0 0 401 37 8.44749 EMCN 0 genome.wustl.edu 37 4 101338291 101338291 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 101338291 101338291 T C SNP EMCN ENST00000296420 human ensembl 74_37 -1 known silent c.672 p.P224 0.002 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 105 0 0 147 22 13.0178 KIAA1109 0 genome.wustl.edu 37 4 123161243 123161243 + Nonsense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 123161243 123161243 T G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known nonsense c.4406 p.L1469* 0.081 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 79 0 0 122 13 9.62963 TAPT1-AS1 0 genome.wustl.edu 37 4 16257958 16257958 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 16257958 16257958 G A SNP TAPT1-AS1 ENST00000570786 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TAPT1-AS1 HGNC ENSG00000263327 31 0 0 27 3 10 FGFR3 0 genome.wustl.edu 37 4 1807568 1807568 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 1807568 1807568 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known silent c.1743 p.F581 0.998 pirsf_FGF_rcpt_fam,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 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 182 0 0 159 17 9.65909 HGFAC 0 genome.wustl.edu 37 4 3443800 3443800 + Silent SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 3443800 3443800 G C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 76 0 0 57 4 6.55738 EVC 0 genome.wustl.edu 37 4 5735085 5735085 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 5735085 5735085 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.625 p.V209I 0.529 NULL NULL - no_errors EVC HGNC ENSG00000072840 371 1 0.268817 468 68 12.6866 CRMP1 0 genome.wustl.edu 37 4 5838597 5838597 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 5838597 5838597 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known silent c.1347 p.P449 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 114 0 0 90 20 18.1818 CCDC158 0 genome.wustl.edu 37 4 77283351 77283351 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 77283351 77283351 C G SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.1948 p.D650H 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 106 0 0 141 15 9.61538 ST8SIA4 0 genome.wustl.edu 37 5 100147763 100147763 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 100147763 100147763 T C SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.868 p.R290G 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 43 0 0 58 8 12.1212 SEPT8 0 genome.wustl.edu 37 5 132097231 132097231 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 132097231 132097231 C T SNP SEPT8 ENST00000378719 human ensembl 74_37 -1 known missense c.881 p.S294N 0.855 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 103 0 0 99 6 5.71429 HTR4 0 genome.wustl.edu 37 5 147889194 147889194 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 147889194 147889194 C T SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.901 p.G301S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 99 0 0 90 15 14.2857 SIMC1 0 genome.wustl.edu 37 5 175716682 175716682 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 175716682 175716682 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.98 p.T33I 0.477 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 18 0 0 24 3 11.1111 KIAA1191 0 genome.wustl.edu 37 5 175774615 175774615 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 175774615 175774615 G A SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known silent c.906 p.P302 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 223 1 0.446429 218 29 11.7409 SDHA 0 genome.wustl.edu 37 5 236617 236617 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 236617 236617 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known silent c.1335 p.S445 0.286 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 116 0 0 92 25 21.3675 PTGER4 0 genome.wustl.edu 37 5 40681868 40681868 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 40681868 40681868 G A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.773 p.R258Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 65 0 0 28 16 36.3636 GPBP1 0 genome.wustl.edu 37 5 56542945 56542945 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 56542945 56542945 C T SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.767 p.T256I 0.998 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 47 0 0 61 12 16.4384 RHOBTB3 0 genome.wustl.edu 37 5 95072640 95072640 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 95072640 95072640 C T SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known silent c.276 p.G92 0.002 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 66 0 0 105 13 11.0169 LAMA2 0 genome.wustl.edu 37 6 129475706 129475706 + Silent SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 129475706 129475706 A C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.1084 p.R362 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 42 0 0 98 13 11.7117 TMEM244 0 genome.wustl.edu 37 6 130164750 130164750 + Splice_Site SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 130164750 130164750 T G SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known splice_site c.120-2 e3-2 0.999 - - - no_errors TMEM244 HGNC ENSG00000203756 90 0 0 203 32 13.617 CCDC28A 0 genome.wustl.edu 37 6 139101111 139101111 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 139101111 139101111 T G SNP CCDC28A ENST00000332797 human ensembl 74_37 +1 known missense c.581 p.L194R 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 46 0 0 100 7 6.54206 SLC17A1 0 genome.wustl.edu 37 6 25819308 25819308 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 25819308 25819308 A G SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known missense c.604 p.F202L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 32 0 0 39 16 29.0909 NOTCH4 0 genome.wustl.edu 37 6 32169879 32169879 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 32169879 32169879 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.3729 p.Y1243 0.987 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,prints_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 169 0 0 175 15 7.89474 HLA-DQA2 0 genome.wustl.edu 37 6 32713088 32713088 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 32713088 32713088 A C SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.235 p.S79R 0.001 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 96 0 0 164 37 18.408 SPDEF 0 genome.wustl.edu 37 6 34512202 34512202 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 34512202 34512202 C T SNP SPDEF ENST00000374037 human ensembl 74_37 -1 known missense c.31 p.V11I 0.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPDEF HGNC ENSG00000124664 39 0 0 32 4 11.1111 CD2AP 0 genome.wustl.edu 37 6 47471062 47471062 + Silent SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 47471062 47471062 A G SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known silent c.51 p.E17 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 76 0 0 118 14 10.6061 DST 0 genome.wustl.edu 37 6 56470515 56470515 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 56470515 56470515 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.8812 p.E2938K 0.031 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 73 0 0 100 11 9.90991 DST 0 genome.wustl.edu 37 6 56482008 56482008 + Missense_Mutation SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 56482008 56482008 T C SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.6257 p.E2086G 0.972 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 135 0 0 223 55 19.7842 FAXC 0 genome.wustl.edu 37 6 99771484 99771484 + Missense_Mutation SNP A A T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 6 99771484 99771484 A T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.659 p.L220H 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 70 0 0 57 10 14.9254 THSD7A 0 genome.wustl.edu 37 7 11446010 11446010 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 11446010 11446010 T G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.4154 p.E1385A 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 89 0 0 107 10 8.54701 CPED1 0 genome.wustl.edu 37 7 120629879 120629879 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 120629879 120629879 C A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.204 p.D68E 0.076 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 122 0 0 145 18 11.0429 PLXNA4 0 genome.wustl.edu 37 7 131853325 131853325 + Missense_Mutation SNP C C A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 131853325 131853325 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.4024 p.G1342C 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA4 HGNC ENSG00000221866 63 0 0 66 6 8.33333 TRPV5 0 genome.wustl.edu 37 7 142626594 142626594 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 142626594 142626594 C T SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.416 p.R139H 0.004 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 176 0 0 138 15 9.80392 SSPO 0 genome.wustl.edu 37 7 149519646 149519646 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 149519646 149519646 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.862 - - - no_errors SSPO HGNC ENSG00000197558 47 0 0 25 2 7.40741 PRKAG2 0 genome.wustl.edu 37 7 151257696 151257696 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 151257696 151257696 C T SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known missense c.1592 p.R531Q 1.000 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 102 0 0 94 22 18.9655 OSBPL3 0 genome.wustl.edu 37 7 24905012 24905012 + Nonsense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 24905012 24905012 G A SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known nonsense c.622 p.R208* 0.995 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 181 0 0 264 45 14.5631 PDE1C 0 genome.wustl.edu 37 7 31920359 31920359 + Splice_Site SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 31920359 31920359 C G SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known splice_site c.242+1 e3+1 1.000 - - - no_errors PDE1C HGNC ENSG00000154678 64 0 0 134 11 7.58621 HECW1 0 genome.wustl.edu 37 7 43483816 43483816 + Splice_Site SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 43483816 43483816 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known splice_site c.1046-1 e9-1 1.000 - - - no_errors HECW1 HGNC ENSG00000002746 73 0 0 65 25 27.7778 ZNF117 0 genome.wustl.edu 37 7 64439916 64439916 + Splice_Site SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 64439916 64439916 T G SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known splice_site c.35-2 e2-2 0.033 - - - no_errors ZNF117 HGNC ENSG00000152926 32 0 0 50 9 15.2542 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 12 0 0 17 4 19.0476 GRM3 0 genome.wustl.edu 37 7 86415969 86415969 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 7 86415969 86415969 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.861 p.A287 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 102 0 0 125 7 5.30303 EMC2 0 genome.wustl.edu 37 8 109455882 109455882 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 109455882 109455882 G A SNP EMC2 ENST00000517784 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EMC2 HGNC ENSG00000104412 18 0 0 29 3 9.375 PKHD1L1 0 genome.wustl.edu 37 8 110509266 110509266 + Missense_Mutation SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 110509266 110509266 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10446 p.W3482C 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 63 0 0 135 13 8.78378 CSMD3 0 genome.wustl.edu 37 8 113702269 113702269 + Silent SNP T T C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 113702269 113702269 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.1983 p.K661 0.998 superfamily_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 115 0 0 274 25 8.3612 TRPS1 0 genome.wustl.edu 37 8 116617098 116617098 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 116617098 116617098 A C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1098 p.H366Q 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 89 0 0 145 13 8.22785 TRPS1 0 genome.wustl.edu 37 8 116632178 116632178 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 116632178 116632178 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.147 p.E49D 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 43 0 0 99 13 11.6071 ENPP2 0 genome.wustl.edu 37 8 120577135 120577135 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 120577135 120577135 A C SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.2348 p.V783G 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 47 0 0 118 15 11.2782 COL22A1 0 genome.wustl.edu 37 8 139890165 139890165 + Silent SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 139890165 139890165 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.486 p.A162 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 35 0 0 26 3 10.3448 LOC100288181 0 genome.wustl.edu 37 8 143784843 143784843 + RNA SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 143784843 143784843 G A SNP LOC100288181 ENST00000520572 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2292P10.4 Clone_based_vega_gene ENSG00000253741 37 0 0 39 7 15.2174 CYP11B1 0 genome.wustl.edu 37 8 143960475 143960475 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 143960475 143960475 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.368 p.R123H 0.249 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 89 0 0 106 11 9.40171 MSR1 0 genome.wustl.edu 37 8 16007773 16007773 + Missense_Mutation SNP T T G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 16007773 16007773 T G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.946 p.S316R 0.977 pfam_Collagen pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 58 0 0 152 11 6.74847 PRKDC 0 genome.wustl.edu 37 8 48800144 48800144 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 48800144 48800144 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.4533 p.S1511 0.894 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 10 0 0 19 2 9.52381 OPRK1 0 genome.wustl.edu 37 8 54147490 54147490 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 54147490 54147490 A C SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.439 p.F147V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 67 0 0 51 9 15 ATP6V1H 0 genome.wustl.edu 37 8 54669124 54669124 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 54669124 54669124 C T SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.1268 p.R423Q 1.000 pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 34 0 0 35 4 10.2564 CA2 0 genome.wustl.edu 37 8 86386017 86386017 + Missense_Mutation SNP G G C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 8 86386017 86386017 G C SNP CA2 ENST00000285379 human ensembl 74_37 +1 known missense c.328 p.D110H 0.963 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 75 0 0 176 11 5.88235 COL15A1 0 genome.wustl.edu 37 9 101748296 101748296 + Missense_Mutation SNP C C T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 101748296 101748296 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.550 p.R184C 0.889 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 91 0 0 81 9 10 SARDH 0 genome.wustl.edu 37 9 136596596 136596596 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 136596596 136596596 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.521 p.A174V 0.980 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 81 0 0 91 28 23.5294 PMPCA 0 genome.wustl.edu 37 9 139309092 139309092 + Silent SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 139309092 139309092 G A SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.525 p.R175 0.992 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 95 0 0 113 18 13.7405 ELAVL2 0 genome.wustl.edu 37 9 23762096 23762096 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 23762096 23762096 A G SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.137 p.L46P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 133 0 0 136 24 15 DCAF12 0 genome.wustl.edu 37 9 34125189 34125189 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 34125189 34125189 G T SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known silent c.165 p.V55 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 57 0 0 85 12 12.3711 ARID3C 0 genome.wustl.edu 37 9 34623474 34623474 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 34623474 34623474 G T SNP ARID3C ENST00000378909 human ensembl 74_37 -1 known silent c.813 p.S271 0.001 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 207 0 0 190 24 11.215 ANKRD20A4 0 genome.wustl.edu 37 9 69390020 69390020 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 69390020 69390020 T A SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known missense c.574 p.S192T 0.002 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 13 0 0 11 5 31.25 TRPM3 0 genome.wustl.edu 37 9 73477848 73477848 + Silent SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 73477848 73477848 T A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.444 p.G148 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 144 0 0 234 13 5.26316 NMRK1 0 genome.wustl.edu 37 9 77692120 77692120 + Missense_Mutation SNP C C G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 77692120 77692120 C G SNP NMRK1 ENST00000361092 human ensembl 74_37 -1 known missense c.124 p.E42Q 1.000 superfamily_P-loop_NTPase,prints_Uridine_kinase superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors NMRK1 HGNC ENSG00000106733 85 0 0 203 31 13.2479 NTRK2 0 genome.wustl.edu 37 9 87322806 87322806 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 9 87322806 87322806 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.407 p.R136H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 92 0 0 156 11 6.58683 TIMM8A 0 genome.wustl.edu 37 X 100603346 100603346 + RNA SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 100603346 100603346 A G SNP TIMM8A ENST00000480575 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TIMM8A HGNC ENSG00000126953 18 0 0 3 3 50 DCX 0 genome.wustl.edu 37 X 110653315 110653315 + Missense_Mutation SNP A A C TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 110653315 110653315 A C SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.555 p.I185M 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 187 0 0 145 22 13.1737 RS1 0 genome.wustl.edu 37 X 18660255 18660255 + Missense_Mutation SNP G G A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 18660255 18660255 G A SNP RS1 ENST00000379984 human ensembl 74_37 -1 known missense c.544 p.R182C 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 136 0 0 117 14 10.687 TBX22 0 genome.wustl.edu 37 X 79279565 79279565 + Silent SNP G G T TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 79279565 79279565 G T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known silent c.360 p.R120 0.969 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 102 0 0 108 14 11.4754 FAM46D 0 genome.wustl.edu 37 X 79698243 79698243 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 79698243 79698243 A G SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.205 p.S69G 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 95 0 0 128 24 15.7895 CYLC1 0 genome.wustl.edu 37 X 83127906 83127906 + Missense_Mutation SNP A A G TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 83127906 83127906 A G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.190 p.R64G 0.006 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 21 0 0 32 5 13.5135 PCDH19 0 genome.wustl.edu 37 X 99551362 99551362 + Missense_Mutation SNP T T A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a X 99551362 99551362 T A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.3360 p.K1120N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 192 0 0 185 27 12.7358 PEX11B 0 genome.wustl.edu 37 1 145517343 145517343 + Frame_Shift_Del DEL A A - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 145517343 145517343 A - DEL PEX11B ENST00000369306 human ensembl 74_37 +1 known frame_shift_del c.127 p.K43fs 0.937 pfam_PEX11 pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 75 0 0 102 11 9.73451 KIFAP3 0 genome.wustl.edu 37 1 169961306 169961309 + Frame_Shift_Del DEL CAGT CAGT - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 1 169961306 169961309 CAGT - DEL KIFAP3 ENST00000361580 human ensembl 74_37 -1 known frame_shift_del c.1274_1271 p.D424fs 1.000:1.000:1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 28 0 0 55 5 8.33333 ACAT1 0 genome.wustl.edu 37 11 108013170 108013171 + Frame_Shift_Ins INS - - A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 11 108013170 108013171 - A INS ACAT1 ENST00000265838 human ensembl 74_37 +1 known frame_shift_ins c.833_834 p.T279fs 0.984:0.050 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 44 0 0 39 17 30.3571 DDX54 0 genome.wustl.edu 37 12 113618755 113618756 + In_Frame_Ins INS - - CTG TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 12 113618755 113618756 - CTG INS DDX54 ENST00000314045 human ensembl 74_37 -1 known in_frame_ins c.283_282 p.94in_frame_insQ 1.000:0.990 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 244 0 0 168 13 7.18232 RNASEH2B 0 genome.wustl.edu 37 13 51517522 51517523 + Frame_Shift_Ins INS - - A TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 13 51517522 51517523 - A INS RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_ins c.502_503 p.V171fs 0.999:0.977 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 66 0 0 141 12 7.84314 ELMSAN1 0 genome.wustl.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 14 74205926 74205928 CTG - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known in_frame_del c.786_784 p.Q262in_frame_del 1.000:1.000:1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 55 0 0 43 7 14 NMT1 0 genome.wustl.edu 37 17 43175752 43175754 + In_Frame_Del DEL AGA AGA - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 17 43175752 43175754 AGA - DEL NMT1 ENST00000258960 human ensembl 74_37 +1 known in_frame_del c.716_718 p.K241in_frame_del 1.000:0.993:1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 268 0 0 377 33 8.04878 PLB1 0 genome.wustl.edu 37 2 28805000 28805004 + Frame_Shift_Del DEL GGTAC GGTAC - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 GGTAC GGTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 2 28805000 28805004 GGTAC - DEL PLB1 ENST00000329020 human ensembl 74_37 +1 known frame_shift_del c.696 p.V233fs 1.000 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 77 0 0 79 9 10.2273 VPS8 0 genome.wustl.edu 37 3 184584737 184584739 + Frame_Shift_Del DEL AAG AAG - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 3 184584737 184584739 AAG - DEL VPS8 ENST00000287546 human ensembl 74_37 +1 known frame_shift_del c.1469_1470 p.K490fs 1.000:1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 89 0 0 169 12 6.62983 PCDH10 0 genome.wustl.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 4 134073569 134073571 CTG - DEL PCDH10 ENST00000264360 human ensembl 74_37 +1 known in_frame_del c.2274_2276 p.C762in_frame_del 0.999:1.000:1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 72 0 0 108 6 5.26316 VDAC1 0 genome.wustl.edu 37 5 133316708 133316708 + RNA DEL T T - TCGA-BR-8369-01A-11D-2340-08 TCGA-BR-8369-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289a4096-4e30-4505-a60b-7c3a89da7ee6 acc4a8fb-74bb-4009-b4b7-23941bc1469a 5 133316708 133316708 T - DEL VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 17 0 0 21 3 12.5