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 OLFM3 0 genome.wustl.edu 37 1 102302454 102302454 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 102302454 102302454 A C SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.257 p.L86R 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 67 0 0 86 22 20.3704 COL11A1 0 genome.wustl.edu 37 1 103343695 103343695 + Silent SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 103343695 103343695 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.5337 p.V1779 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 29 0 0 33 6 15.3846 KCNA10 0 genome.wustl.edu 37 1 111060346 111060346 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 111060346 111060346 G A SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.1064 p.S355L 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 159 0 0 131 17 11.4865 DCLRE1B 0 genome.wustl.edu 37 1 114454003 114454003 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 114454003 114454003 C A SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.789 p.S263R 0.007 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 102 0 0 99 15 13.1579 FLG 0 genome.wustl.edu 37 1 152278692 152278692 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 152278692 152278692 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8670 p.S2890R 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 239 0 0 234 33 12.3596 CD5L 0 genome.wustl.edu 37 1 157803243 157803243 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 157803243 157803243 G T SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.778 p.L260M 0.097 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 162 0 0 146 15 9.31677 SPTA1 0 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 158606546 158606546 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5195 p.K1732T 1.000 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 115 1 0.862069 84 40 32.2581 CR1 0 genome.wustl.edu 37 1 207753894 207753894 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 207753894 207753894 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.5152 p.G1718C 0.995 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 CR1 HGNC ENSG00000203710 228 2 0.869565 205 46 18.3267 CENPF 0 genome.wustl.edu 37 1 214816265 214816265 + Nonsense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 214816265 214816265 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.4584 p.C1528* 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 64 0 0 56 16 22.2222 FMN2 0 genome.wustl.edu 37 1 240371484 240371484 + Silent SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 240371484 240371484 A T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3372 p.L1124 0.641 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 40 0 0 35 8 18.6047 CHML 0 genome.wustl.edu 37 1 241798734 241798734 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 241798734 241798734 T C SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.335 p.N112S 0.000 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 278 0 0 215 32 12.9555 OR2M5 0 genome.wustl.edu 37 1 248308749 248308749 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 248308749 248308749 A C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.300 p.Q100H 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 344 0 0 277 76 21.5297 ARID1A 0 genome.wustl.edu 37 1 27100390 27100390 + Splice_Site SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 27100390 27100390 G C SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known splice_site c.4101+1 e17+1 1.000 - - - no_errors ARID1A HGNC ENSG00000117713 166 1 0.598802 120 33 21.5686 WASF2 0 genome.wustl.edu 37 1 27742538 27742538 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 27742538 27742538 A G SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.478 p.W160R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 104 0 0 120 14 10.4478 DHCR24 0 genome.wustl.edu 37 1 55319136 55319136 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 55319136 55319136 C A SNP DHCR24 ENST00000371269 human ensembl 74_37 -1 known missense c.1368 p.Q456H 1.000 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 53 0 0 43 3 6.52174 ODF2L 0 genome.wustl.edu 37 1 86826191 86826191 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 86826191 86826191 A T SNP ODF2L ENST00000317336 human ensembl 74_37 -1 known missense c.1172 p.V391D 0.088 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 62 0 0 50 9 15.2542 CA6 0 genome.wustl.edu 37 1 9030988 9030988 + Silent SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 9030988 9030988 C A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known silent c.792 p.R264 0.004 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 CA6 HGNC ENSG00000131686 109 0 0 86 26 23.2143 C10orf95 0 genome.wustl.edu 37 10 104210877 104210877 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 104210877 104210877 C G SNP C10orf95 ENST00000239125 human ensembl 74_37 -1 known missense c.111 p.K37N 0.000 NULL NULL - no_errors C10orf95 HGNC ENSG00000120055 20 0 0 22 11 33.3333 PNLIPRP3 0 genome.wustl.edu 37 10 118228808 118228808 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 118228808 118228808 G T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1039 p.G347W 0.128 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 37 0 0 50 5 9.09091 PTPRE 0 genome.wustl.edu 37 10 129869126 129869126 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 129869126 129869126 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1348 p.A450T 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 65 0 0 48 3 5.88235 CUBN 0 genome.wustl.edu 37 10 17061928 17061928 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 17061928 17061928 G T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4072 p.P1358T 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 54 0 0 128 7 5.18519 NEBL 0 genome.wustl.edu 37 10 21112165 21112165 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 21112165 21112165 A C SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.1934 p.V645G 0.998 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 34 0 0 46 45 49.4505 FAM13C 0 genome.wustl.edu 37 10 61012739 61012739 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 61012739 61012739 T G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1352 p.D451A 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 87 0 0 84 6 6.66667 ZNF365 0 genome.wustl.edu 37 10 64425905 64425905 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 64425905 64425905 A C SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.1237 p.S413R 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 45 0 0 39 20 33.8983 SFMBT2 0 genome.wustl.edu 37 10 7409728 7409728 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 7409728 7409728 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 60 0 0 88 13 12.8713 KCNMA1 0 genome.wustl.edu 37 10 78709036 78709036 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 78709036 78709036 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2585 p.R862Q 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 81 0 0 51 24 32 NXPE4 0 genome.wustl.edu 37 11 114453577 114453577 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 114453577 114453577 A G SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.263 p.F88S 0.971 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 204 0 0 169 72 29.8755 OR10G4 0 genome.wustl.edu 37 11 123886648 123886648 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 123886648 123886648 T C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known silent c.367 p.L123 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 141 0 0 107 33 23.5714 NTM 0 genome.wustl.edu 37 11 132177683 132177683 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 132177683 132177683 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known silent c.627 p.A209 0.866 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 39 0 0 31 6 16.2162 KCNQ1OT1 0 genome.wustl.edu 37 11 2683419 2683419 + RNA SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 2683419 2683419 C G SNP KCNQ1OT1 ENST00000597346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 20 0 0 12 4 25 DCDC1 0 genome.wustl.edu 37 11 30928202 30928202 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 30928202 30928202 C A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1226 p.R409I 0.028 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 24 0 0 28 3 9.67742 OR4X2 0 genome.wustl.edu 37 11 48267435 48267435 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 48267435 48267435 C A SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known missense c.780 p.D260E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 52 0 0 44 10 18.5185 TRIM49B 0 genome.wustl.edu 37 11 49055924 49055924 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 49055924 49055924 T G SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.734 p.L245R 0.021 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 169 1 0.588235 101 44 30.3448 LOC440040 0 genome.wustl.edu 37 11 49831795 49831795 + RNA SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 49831795 49831795 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.423 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 165 0 0 155 16 9.35673 OR52A5 0 genome.wustl.edu 37 11 5153446 5153446 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 5153446 5153446 A C SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.427 p.L143V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 54 0 0 42 9 17.6471 TRIM51HP 0 genome.wustl.edu 37 11 55065012 55065012 + RNA SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 55065012 55065012 T G SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 34 0 0 37 7 15.9091 GLYATL1 0 genome.wustl.edu 37 11 58711067 58711067 + Nonsense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 58711067 58711067 C T SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known nonsense c.76 p.R26* 0.007 NULL pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 38 0 0 26 3 10.3448 DAGLA 0 genome.wustl.edu 37 11 61511242 61511242 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 61511242 61511242 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2410 p.R804W 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 193 1 0.515464 145 27 15.6977 AHNAK 0 genome.wustl.edu 37 11 62299852 62299852 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 62299852 62299852 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.2037 p.K679 0.096 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 176 1 0.564972 134 25 15.7233 CCKBR 0 genome.wustl.edu 37 11 6292166 6292166 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 6292166 6292166 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.944 p.R315Q 0.155 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 27 0 0 16 6 27.2727 NUDT22 0 genome.wustl.edu 37 11 63994300 63994300 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 63994300 63994300 C G SNP NUDT22 ENST00000279206 human ensembl 74_37 +1 known missense c.176 p.P59R 1.000 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT22 HGNC ENSG00000149761 107 0 0 83 12 12.6316 ADRBK1 0 genome.wustl.edu 37 11 67049430 67049430 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 67049430 67049430 G A SNP ADRBK1 ENST00000534651 human ensembl 74_37 +1 putative rna NULL NULL 0.011 - - - no_errors ADRBK1 HGNC ENSG00000173020 106 0 0 72 13 15.2941 OR10A4 0 genome.wustl.edu 37 11 6898077 6898077 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 6898077 6898077 T G SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.199 p.L67V 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 131 1 0.757576 134 19 12.4183 LOC101060510 0 genome.wustl.edu 37 11 74630699 74630699 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 74630699 74630699 G A SNP LOC101060510 ENST00000487111 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-147I3.1 Clone_based_vega_gene ENSG00000241170 17 0 0 8 4 33.3333 KLHL35 0 genome.wustl.edu 37 11 75134734 75134734 + Splice_Site SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 75134734 75134734 A G SNP KLHL35 ENST00000539798 human ensembl 74_37 -1 known splice_site c.1563+2 e5+2 1.000 - - - no_errors KLHL35 HGNC ENSG00000149243 204 1 0.487805 142 19 11.8012 TRIM49 0 genome.wustl.edu 37 11 89537579 89537579 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 11 89537579 89537579 T G SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.59 p.N20T 0.005 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 54 0 0 41 5 10.8696 PARPBP 0 genome.wustl.edu 37 12 102590369 102590369 + RNA SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 102590369 102590369 C T SNP PARPBP ENST00000535811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PARPBP HGNC ENSG00000185480 86 0 0 100 16 13.7931 NUAK1 0 genome.wustl.edu 37 12 106461395 106461395 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 106461395 106461395 T G SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1171 p.K391Q 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 98 0 0 100 20 16.6667 DDX51 0 genome.wustl.edu 37 12 132624651 132624651 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 132624651 132624651 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1767 p.Y589 0.986 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 - no_errors DDX51 HGNC ENSG00000185163 108 1 0.917431 82 36 30.5085 PDE3A 0 genome.wustl.edu 37 12 20523121 20523121 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 20523121 20523121 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.903 p.S301 0.006 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 49 0 0 35 13 27.0833 LRRK2 0 genome.wustl.edu 37 12 40692165 40692165 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 40692165 40692165 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3217 p.S1073P 0.012 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 65 0 0 61 10 14.0845 DDX23 0 genome.wustl.edu 37 12 49224310 49224310 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 49224310 49224310 T C SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.2405 p.Q802R 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,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 DDX23 HGNC ENSG00000174243 104 0 0 89 9 9.18367 KRT6C 0 genome.wustl.edu 37 12 52867260 52867260 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 52867260 52867260 C T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.262 p.G88R 0.861 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 11 0 0 9 6 40 KRT73 0 genome.wustl.edu 37 12 53009982 53009982 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 53009982 53009982 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.630 p.S210 0.239 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 109 0 0 75 34 31.1927 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104M 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 130 1 0.763359 126 23 15.4362 PTPRB 0 genome.wustl.edu 37 12 71016170 71016170 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 71016170 71016170 C G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.708 p.E236D 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 98 0 0 73 17 18.8889 E2F7 0 genome.wustl.edu 37 12 77436957 77436957 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 77436957 77436957 G C SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.1011 p.D337E 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 98 0 0 73 16 17.9775 TMCC3 0 genome.wustl.edu 37 12 94976035 94976035 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 12 94976035 94976035 G C SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.358 p.Q120E 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 68 0 0 53 21 28.3784 MPHOSPH8 0 genome.wustl.edu 37 13 20235930 20235930 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 20235930 20235930 C T SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known silent c.1884 p.N628 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 107 0 0 77 11 12.5 CCNA1 0 genome.wustl.edu 37 13 37014301 37014301 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 37014301 37014301 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.1079 p.R360K 0.003 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 140 0 0 109 9 7.62712 POSTN 0 genome.wustl.edu 37 13 38172767 38172767 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 38172767 38172767 G A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.97 p.R33C 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 72 0 0 45 9 16.6667 KIAA0226L 0 genome.wustl.edu 37 13 46946558 46946558 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 46946558 46946558 C T SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.53 p.G18E 0.629 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 19 0 0 11 3 21.4286 MYCBP2 0 genome.wustl.edu 37 13 77635848 77635848 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 77635848 77635848 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.12852 p.D4284 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 30 0 0 26 4 13.3333 STK24 0 genome.wustl.edu 37 13 99109504 99109504 + Nonsense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 99109504 99109504 G A SNP STK24 ENST00000376547 human ensembl 74_37 -1 known nonsense c.1213 p.R405* 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK24 HGNC ENSG00000102572 58 0 0 25 10 28.5714 HSP90AA1 0 genome.wustl.edu 37 14 102552358 102552358 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 14 102552358 102552358 A G SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.632 p.L211P 1.000 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 84 0 0 54 9 14.2857 RIPK3 0 genome.wustl.edu 37 14 24805445 24805445 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 14 24805445 24805445 T C SNP RIPK3 ENST00000216274 human ensembl 74_37 -1 known missense c.1493 p.E498G 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 110 1 0.900901 55 7 11.2903 NPAS3 0 genome.wustl.edu 37 14 34270197 34270197 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 14 34270197 34270197 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2684 p.T895M 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 9 0 0 9 4 30.7692 WDHD1 0 genome.wustl.edu 37 14 55453924 55453924 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 14 55453924 55453924 C A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.1708 p.A570S 1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 70 0 0 56 3 5.08475 NPAP1 0 genome.wustl.edu 37 15 24922936 24922936 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 24922936 24922936 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1922 p.K641T 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 114 0 0 87 12 12.1212 PAK6 0 genome.wustl.edu 37 15 40564645 40564645 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 40564645 40564645 G A SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.1079 p.S360N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 46 0 0 26 11 29.7297 FBN1 0 genome.wustl.edu 37 15 48807654 48807654 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 48807654 48807654 A C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1398 p.I466M 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 82 0 0 41 16 28.0702 FBN1 0 genome.wustl.edu 37 15 48807655 48807655 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 48807655 48807655 A T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1397 p.I466N 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 83 0 0 42 16 27.5862 FBN1 0 genome.wustl.edu 37 15 48818420 48818420 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 48818420 48818420 A G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.895 p.C299R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 48 0 0 62 23 27.0588 RNF111 0 genome.wustl.edu 37 15 59381897 59381897 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 59381897 59381897 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.2609 p.R870H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 154 1 0.645161 119 41 25.625 NARG2 0 genome.wustl.edu 37 15 60741737 60741737 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 60741737 60741737 C A SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.1429 p.G477C 0.026 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 76 0 0 56 8 12.5 TLN2 0 genome.wustl.edu 37 15 63008619 63008619 + Silent SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 63008619 63008619 C A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.2724 p.A908 0.988 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 44 0 0 44 4 8.33333 PTPLAD1 0 genome.wustl.edu 37 15 65862541 65862541 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 65862541 65862541 G A SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.773 p.R258K 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 38 0 0 46 3 6.12245 ANP32BP1 0 genome.wustl.edu 37 15 75614529 75614529 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 75614529 75614529 G A SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANP32BP1 HGNC ENSG00000259790 42 0 0 30 10 25 CSPG4 0 genome.wustl.edu 37 15 75983006 75983006 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 75983006 75983006 C A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.400 p.A134S 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 82 0 0 55 18 24.6575 CPEB1 0 genome.wustl.edu 37 15 83296110 83296110 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 83296110 83296110 T G SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known missense c.24 p.E8D 0.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 24 0 0 16 8 33.3333 PRC1 0 genome.wustl.edu 37 15 91537729 91537729 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 91537729 91537729 G A SNP PRC1 ENST00000555745 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PRC1 HGNC ENSG00000198901 17 0 0 11 7 38.8889 NPW 0 genome.wustl.edu 37 16 2070128 2070128 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 16 2070128 2070128 G A SNP NPW ENST00000329610 human ensembl 74_37 +1 known missense c.226 p.D76N 0.461 NULL prints_Neuropept_W_pre,prints_Neuropept_BW_pre - no_errors NPW HGNC ENSG00000183971 18 0 0 12 4 25 IRX5 0 genome.wustl.edu 37 16 54967412 54967412 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 16 54967412 54967412 C T SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.1079 p.P360L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 26 0 0 19 6 24 CDH1 0 genome.wustl.edu 37 16 68842415 68842415 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 16 68842415 68842415 C T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.476 p.P159L 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 51 0 0 61 12 16.4384 C16orf3 0 genome.wustl.edu 37 16 90095561 90095561 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 16 90095561 90095561 C T SNP C16orf3 ENST00000408886 human ensembl 74_37 -1 known missense c.190 p.V64I 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 12 0 0 12 4 25 YWHAE 0 genome.wustl.edu 37 17 1264561 1264561 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 1264561 1264561 A T SNP YWHAE ENST00000264335 human ensembl 74_37 -1 known missense c.403 p.F135I 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 94 0 0 66 16 19.5122 SEZ6 0 genome.wustl.edu 37 17 27284988 27284988 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 27284988 27284988 T C SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.2279 p.E760G 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 40 0 0 34 9 20.9302 ANKRD13B 0 genome.wustl.edu 37 17 27939281 27939281 + Silent SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 27939281 27939281 A G SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known silent c.1248 p.P416 0.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 110 0 0 72 21 22.5806 NEUROD2 0 genome.wustl.edu 37 17 37762570 37762570 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 37762570 37762570 C T SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known missense c.283 p.E95K 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 19 0 0 12 4 25 KRT10 0 genome.wustl.edu 37 17 38978350 38978350 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 38978350 38978350 T C SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.488 p.K163R 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 96 0 0 98 15 13.2743 KRT20 0 genome.wustl.edu 37 17 39041346 39041346 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 39041346 39041346 G A SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.92 p.T31M 0.809 NULL pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 53 0 0 66 6 8.33333 CNTNAP1 0 genome.wustl.edu 37 17 40839908 40839908 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 40839908 40839908 C T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.1215 p.D405 0.799 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 108 0 0 112 28 20 SOST 0 genome.wustl.edu 37 17 41833119 41833119 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 41833119 41833119 T G SNP SOST ENST00000301691 human ensembl 74_37 -1 known missense c.233 p.Y78S 1.000 pfam_Sclerostin/SOSTDC1,pfam_DAN pfam_Sclerostin/SOSTDC1,pfam_DAN,smart_Cys_knot_C - no_errors SOST HGNC ENSG00000167941 17 0 0 11 4 26.6667 MPP3 0 genome.wustl.edu 37 17 41907136 41907136 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 41907136 41907136 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.327 p.T109 0.002 pfam_L27_C,superfamily_PDZ,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 86 0 0 83 13 13.5417 BTBD17 0 genome.wustl.edu 37 17 72353345 72353345 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 72353345 72353345 C T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known silent c.888 p.S296 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 13 0 0 9 4 30.7692 TMEM104 0 genome.wustl.edu 37 17 72832361 72832361 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 17 72832361 72832361 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known silent c.1026 p.F342 0.987 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 267 1 0.373134 124 59 32.2404 CTAGE1 0 genome.wustl.edu 37 18 19995611 19995611 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 19995611 19995611 C T SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.2164 p.V722I 0.032 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 46 0 0 28 9 24.3243 ZNF521 0 genome.wustl.edu 37 18 22806293 22806293 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 22806293 22806293 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.1589 p.E530G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 80 0 0 44 14 24.1379 ZNF521 0 genome.wustl.edu 37 18 22806855 22806855 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 22806855 22806855 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.1027 p.S343G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 53 0 0 25 16 39.0244 CELF4 0 genome.wustl.edu 37 18 34833871 34833871 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 34833871 34833871 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1364 p.A455V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 112 0 0 64 10 13.5135 SYT4 0 genome.wustl.edu 37 18 40854178 40854178 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 40854178 40854178 C A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.216 p.K72N 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 56 0 0 40 6 13.0435 EPG5 0 genome.wustl.edu 37 18 43510773 43510773 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 43510773 43510773 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2281 p.E761K 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 36 0 0 19 6 24 DCC 0 genome.wustl.edu 37 18 51013309 51013309 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 51013309 51013309 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3879 p.F1293 0.416 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC ENSG00000187323 70 0 0 39 27 40.9091 RNF152 0 genome.wustl.edu 37 18 59483266 59483266 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 59483266 59483266 C A SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known missense c.431 p.G144V 0.382 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 81 0 0 50 9 15.2542 ZNF236 0 genome.wustl.edu 37 18 74620433 74620433 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 74620433 74620433 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.2449 p.E817K 0.760 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 75 0 0 55 23 29.4872 PTPRM 0 genome.wustl.edu 37 18 8343485 8343485 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 18 8343485 8343485 C G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3024 p.I1008M 0.995 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 91 0 0 59 32 35.1648 MKNK2 0 genome.wustl.edu 37 19 2043500 2043500 + Splice_Site SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 2043500 2043500 A T SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known splice_site c.419+2 e5+2 0.158 - - - no_errors MKNK2 HGNC ENSG00000099875 44 0 0 38 8 17.3913 ZNF257 0 genome.wustl.edu 37 19 22271400 22271400 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 22271400 22271400 A C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.848 p.K283T 0.999 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 ZNF257 HGNC ENSG00000197134 29 0 0 23 8 25.8065 ZNF729 0 genome.wustl.edu 37 19 22499578 22499578 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 22499578 22499578 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3359 p.T1120M 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 36 0 0 39 7 15.2174 PIP5K1C 0 genome.wustl.edu 37 19 3656413 3656413 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 3656413 3656413 C A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.611 p.G204V 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 85 0 0 83 12 12.6316 ZNF567 0 genome.wustl.edu 37 19 37211522 37211522 + Silent SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 37211522 37211522 C G SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known silent c.1896 p.L632 0.011 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 39 0 0 43 3 6.52174 ZNF790 0 genome.wustl.edu 37 19 37310610 37310610 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 37310610 37310610 T G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.636 p.E212D 0.000 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 ZNF790 HGNC ENSG00000197863 47 0 0 37 12 24.4898 ZBTB7A 0 genome.wustl.edu 37 19 4047779 4047779 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 4047779 4047779 C T SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1726 p.D576N 0.930 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 72 0 0 54 25 31.6456 ZNF296 0 genome.wustl.edu 37 19 45575376 45575376 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 45575376 45575376 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.911 p.P304L 0.246 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 78 0 0 82 26 24.0741 PRR12 0 genome.wustl.edu 37 19 50098208 50098208 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 50098208 50098208 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.616 p.E206K 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 17 0 0 8 3 27.2727 NR1H2 0 genome.wustl.edu 37 19 50885722 50885722 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 50885722 50885722 C T SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.1246 p.R416C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 13 0 0 15 3 16.6667 ZNF615 0 genome.wustl.edu 37 19 52497583 52497583 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 52497583 52497583 T C SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.779 p.D260G 0.040 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 133 1 0.746269 106 32 23.1884 VN1R4 0 genome.wustl.edu 37 19 53770261 53770261 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 53770261 53770261 T C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.658 p.N220D 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 20 0 0 14 5 26.3158 MIR520A 0 genome.wustl.edu 37 19 54194212 54194212 + RNA SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 54194212 54194212 G T SNP MIR520A ENST00000384862 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR520A HGNC ENSG00000207594 89 0 0 67 28 29.4737 MIR523 0 genome.wustl.edu 37 19 54201711 54201711 + RNA SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 54201711 54201711 G T SNP MIR523 ENST00000385281 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR523 HGNC ENSG00000208016 47 0 0 36 9 20 ZFP28 0 genome.wustl.edu 37 19 57062027 57062027 + Silent SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 57062027 57062027 T G SNP ZFP28 ENST00000591844 human ensembl 74_37 +1 putative silent c.951 p.A317 0.004 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 25 0 0 16 9 36 TUBB4A 0 genome.wustl.edu 37 19 6495840 6495840 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 6495840 6495840 C A SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.670 p.D224Y 0.999 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Alpha_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 124 1 0.8 151 13 7.92683 C3 0 genome.wustl.edu 37 19 6707206 6707206 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 6707206 6707206 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2126 p.R709H 0.952 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 30 0 0 40 3 6.97674 ZNF358 0 genome.wustl.edu 37 19 7584566 7584566 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 7584566 7584566 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known silent c.438 p.S146 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 17 0 0 21 3 12.5 MUC16 0 genome.wustl.edu 37 19 9057177 9057177 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 19 9057177 9057177 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30269 p.T10090I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 85 0 0 73 20 21.5054 EDAR 0 genome.wustl.edu 37 2 109524386 109524386 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 109524386 109524386 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.989 p.P330L 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 90 0 0 77 19 19.7917 ACOXL 0 genome.wustl.edu 37 2 111542390 111542390 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 111542390 111542390 A G SNP ACOXL ENST00000439055 human ensembl 74_37 +1 known missense c.157 p.K53E 0.886 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase - no_errors ACOXL HGNC ENSG00000153093 52 0 0 39 10 20.4082 GPR148 0 genome.wustl.edu 37 2 131486823 131486823 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 131486823 131486823 C A SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known missense c.99 p.S33R 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 97 0 0 80 13 13.9785 THSD7B 0 genome.wustl.edu 37 2 137852666 137852666 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 137852666 137852666 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1174 p.G392R 1.000 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 34 0 0 33 11 25 LRP1B 0 genome.wustl.edu 37 2 141299347 141299347 + Splice_Site SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 141299347 141299347 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.7387+1 e44+1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 98 0 0 101 22 17.8862 BAZ2B 0 genome.wustl.edu 37 2 160295025 160295025 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 160295025 160295025 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1082 p.S361F 1.000 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 85 0 0 84 20 19.2308 TTN 0 genome.wustl.edu 37 2 179398461 179398461 + Nonsense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 179398461 179398461 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.95177 p.S31726* 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 42 0 0 35 11 23.913 TTN 0 genome.wustl.edu 37 2 179434772 179434772 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 179434772 179434772 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68383 p.R22795S 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 51 0 0 58 4 6.45161 HECW2 0 genome.wustl.edu 37 2 197185083 197185083 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 197185083 197185083 A C SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.965 p.V322G 1.000 superfamily_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 27 0 0 26 4 13.3333 ALS2CR12 0 genome.wustl.edu 37 2 202208958 202208958 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 202208958 202208958 G T SNP ALS2CR12 ENST00000286190 human ensembl 74_37 -1 known missense c.397 p.Q133K 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 117 1 0.847458 109 26 19.2593 CRYGD 0 genome.wustl.edu 37 2 208988868 208988868 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 208988868 208988868 C T SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known missense c.220 p.D74N 0.981 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 44 0 0 43 12 21.8182 ERBB4 0 genome.wustl.edu 37 2 212251789 212251789 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 212251789 212251789 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known silent c.3270 p.E1090 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 147 0 0 121 34 21.9355 CRYBA2 0 genome.wustl.edu 37 2 219856890 219856890 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 219856890 219856890 G A SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known silent c.237 p.S79 0.998 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 53 0 0 30 5 14.2857 ENSG00000221344 0 genome.wustl.edu 37 2 220088809 220088809 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 220088809 220088809 G A SNP ENSG00000221344 ENST00000408417 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC068946.1 Clone_based_ensembl_gene ENSG00000221344 118 1 0.840336 100 25 20 DNER 0 genome.wustl.edu 37 2 230223363 230223363 + Nonsense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 230223363 230223363 C A SNP DNER ENST00000341772 human ensembl 74_37 -1 known nonsense c.2107 p.G703* 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 54 0 0 50 13 20.6349 ANO7 0 genome.wustl.edu 37 2 242155602 242155602 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 242155602 242155602 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.2083 p.D695N 0.991 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 28 0 0 21 5 19.2308 KCNK3 0 genome.wustl.edu 37 2 26950835 26950835 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 26950835 26950835 T C SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.584 p.I195T 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 79 0 0 41 18 30.5085 HNRNPA1P57 0 genome.wustl.edu 37 2 41383935 41383935 + RNA SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 41383935 41383935 G T SNP HNRNPA1P57 ENST00000431359 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors HNRNPA1P57 HGNC ENSG00000237442 12 0 0 20 7 25.9259 PREPL 0 genome.wustl.edu 37 2 44554027 44554027 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 44554027 44554027 G A SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.1570 p.R524C 0.995 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 36 0 0 40 7 14.8936 PNPT1 0 genome.wustl.edu 37 2 55920812 55920812 + Silent SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 55920812 55920812 C G SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known silent c.147 p.V49 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 84 0 0 83 8 8.79121 FUNDC2P2 0 genome.wustl.edu 37 2 84518223 84518223 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 84518223 84518223 G A SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 66 0 0 66 20 23.2558 KRCC1 0 genome.wustl.edu 37 2 88327339 88327339 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 88327339 88327339 C T SNP KRCC1 ENST00000347055 human ensembl 74_37 -1 known silent c.744 p.E248 1.000 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 90 0 0 80 12 13.0435 LMAN2L 0 genome.wustl.edu 37 2 97400258 97400258 + Nonsense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 97400258 97400258 A T SNP LMAN2L ENST00000377079 human ensembl 74_37 -1 known nonsense c.312 p.C104* 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 70 0 0 55 18 24.6575 KIAA1211L 0 genome.wustl.edu 37 2 99439596 99439596 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 99439596 99439596 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.1140 p.P380 0.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 26 0 0 14 10 41.6667 CCM2L 0 genome.wustl.edu 37 20 30602748 30602748 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 20 30602748 30602748 C T SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known silent c.72 p.A24 0.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 166 1 0.598802 215 15 6.52174 BLCAP 0 genome.wustl.edu 37 20 36147344 36147344 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 20 36147344 36147344 G A SNP BLCAP ENST00000373537 human ensembl 74_37 -1 known missense c.233 p.S78L 0.684 NULL pfam_BC10-like - no_errors BLCAP HGNC ENSG00000166619 76 0 0 89 13 12.7451 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44174305 44174305 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 20 44174305 44174305 C T SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known missense c.196 p.G66R 0.981 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 176 1 0.564972 151 91 37.6033 KCNG1 0 genome.wustl.edu 37 20 49626481 49626481 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 20 49626481 49626481 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.395 p.R132H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 41 0 0 76 7 8.43373 TIAM1 0 genome.wustl.edu 37 21 32493119 32493119 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 21 32493119 32493119 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4343 p.R1448Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 43 0 0 22 18 45 RFPL1 0 genome.wustl.edu 37 22 29837692 29837692 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 22 29837692 29837692 C T SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known missense c.535 p.R179C 0.087 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL1 HGNC ENSG00000128250 123 1 0.806452 114 26 18.5714 ZPLD1 0 genome.wustl.edu 37 3 102187912 102187912 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 102187912 102187912 T A SNP ZPLD1 ENST00000306176 human ensembl 74_37 +1 known missense c.914 p.M305K 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ENSG00000170044 102 0 0 70 20 22.2222 BOC 0 genome.wustl.edu 37 3 113002434 113002434 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 113002434 113002434 G A SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2611 p.V871I 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 92 0 0 93 10 9.70874 TIGIT 0 genome.wustl.edu 37 3 114014537 114014537 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 114014537 114014537 T G SNP TIGIT ENST00000383671 human ensembl 74_37 +1 known missense c.207 p.C69W 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIGIT HGNC ENSG00000181847 66 0 0 63 21 25 RPL32P3 0 genome.wustl.edu 37 3 129115109 129115109 + RNA SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 129115109 129115109 A T SNP RPL32P3 ENST00000506593 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL32P3 HGNC ENSG00000251474 44 0 0 39 14 26.4151 SLCO2A1 0 genome.wustl.edu 37 3 133653654 133653654 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 133653654 133653654 C T SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known missense c.1835 p.G612D 1.000 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 SLCO2A1 HGNC ENSG00000174640 50 0 0 44 7 13.7255 MED12L 0 genome.wustl.edu 37 3 150877793 150877793 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 150877793 150877793 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1012 p.G338S 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 147 0 0 123 39 24.0741 MED12L 0 genome.wustl.edu 37 3 151095885 151095885 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 151095885 151095885 G T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4297 p.A1433S 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 67 0 0 70 7 9.09091 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159614519 159614519 + Nonsense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 159614519 159614519 G T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known nonsense c.1648 p.E550* 0.999 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 21 0 0 18 7 28 MUC4 0 genome.wustl.edu 37 3 195505242 195505242 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 195505242 195505242 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12875 p.S4292F 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 68 0 0 46 22 32.3529 ARPP21 0 genome.wustl.edu 37 3 35778739 35778739 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 35778739 35778739 G A SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1427 p.R476Q 0.977 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 83 0 0 80 13 13.9785 XIRP1 0 genome.wustl.edu 37 3 39229243 39229243 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 39229243 39229243 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.1694 p.R565Q 0.871 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 78 0 0 63 17 21.25 SUMF1 0 genome.wustl.edu 37 3 4494657 4494657 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 4494657 4494657 G A SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known missense c.347 p.A116V 0.900 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 50 0 0 48 5 9.43396 RHOA 0 genome.wustl.edu 37 3 49412900 49412900 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 49412900 49412900 G C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.123 p.N41K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 114 1 0.869565 115 30 20.6897 AMIGO3 0 genome.wustl.edu 37 3 49756171 49756171 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 49756171 49756171 C T SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.728 p.R243H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 64 0 0 57 6 9.52381 PBRM1 0 genome.wustl.edu 37 3 52702550 52702550 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 52702550 52702550 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known silent c.348 p.F116 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 23 0 0 21 3 12.5 PCDH18 0 genome.wustl.edu 37 4 138452262 138452262 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 4 138452262 138452262 T C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.981 p.Q327 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 37 0 0 18 11 37.931 WDR17 0 genome.wustl.edu 37 4 177082116 177082116 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 4 177082116 177082116 T A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2785 p.S929T 0.790 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 40 0 0 26 5 16.129 HSP90AA4P 0 genome.wustl.edu 37 4 190395775 190395775 + RNA SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 4 190395775 190395775 T C SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 35 0 0 22 10 31.25 SULT1E1 0 genome.wustl.edu 37 4 70723267 70723267 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 4 70723267 70723267 C T SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known silent c.96 p.A32 0.025 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 77 0 0 30 20 40 ADAMTS19 0 genome.wustl.edu 37 5 129039996 129039996 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 129039996 129039996 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3206 p.K1069T 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 155 0 0 129 25 16.2338 RAPGEF6 0 genome.wustl.edu 37 5 130825266 130825266 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 130825266 130825266 C G SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1813 p.A605P 1.000 pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 27 0 0 20 5 20 SPOCK1 0 genome.wustl.edu 37 5 136324155 136324155 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 136324155 136324155 T G SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.884 p.K295T 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 114 0 0 80 23 22.3301 HNRNPA0 0 genome.wustl.edu 37 5 137088877 137088877 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 137088877 137088877 G A SNP HNRNPA0 ENST00000314940 human ensembl 74_37 -1 known silent c.879 p.G293 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 48 0 0 31 19 38 CDC25C 0 genome.wustl.edu 37 5 137661584 137661584 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 137661584 137661584 G C SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known missense c.379 p.L127V 0.975 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 64 0 0 49 7 12.5 PCDHA8 0 genome.wustl.edu 37 5 140222910 140222910 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 140222910 140222910 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.2004 p.S668 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 112 0 0 97 19 16.3793 PCDHB16 0 genome.wustl.edu 37 5 140562740 140562740 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 140562740 140562740 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.606 p.R202 0.842 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 62 0 0 54 6 10 ADAM19 0 genome.wustl.edu 37 5 156929870 156929870 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 156929870 156929870 G A SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1255 p.R419W 0.999 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 127 0 0 98 30 23.4375 CDH10 0 genome.wustl.edu 37 5 24487971 24487971 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 24487971 24487971 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2168 p.L723P 0.009 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 103 1 0.961538 61 24 28.2353 ADAMTS12 0 genome.wustl.edu 37 5 33614400 33614400 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 33614400 33614400 G T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2470 p.Q824K 0.842 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 43 0 0 22 9 29.0323 RXFP3 0 genome.wustl.edu 37 5 33936965 33936965 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 33936965 33936965 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.120 p.N40 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 113 1 0.877193 102 22 17.7419 ITGA1 0 genome.wustl.edu 37 5 52229783 52229783 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 52229783 52229783 A G SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.2921 p.N974S 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 ITGA1 HGNC ENSG00000213949 56 0 0 49 9 15.5172 VCAN 0 genome.wustl.edu 37 5 82837805 82837805 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 82837805 82837805 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.8983 p.S2995R 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 69 0 0 51 5 8.92857 SEMA5A 0 genome.wustl.edu 37 5 9044528 9044528 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 9044528 9044528 T G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.3062 p.H1021P 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 115 0 0 80 20 20 FAM81B 0 genome.wustl.edu 37 5 94749783 94749783 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 5 94749783 94749783 C G SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.426 p.C142W 1.000 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 81 0 0 61 6 8.95522 QRSL1 0 genome.wustl.edu 37 6 107088263 107088263 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 107088263 107088263 G A SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.64 p.E22K 1.000 superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 49 0 0 39 22 36.0656 LAMA4 0 genome.wustl.edu 37 6 112512889 112512889 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 112512889 112512889 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.667 p.R223C 0.747 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 56 0 0 27 20 42.5532 TBPL1 0 genome.wustl.edu 37 6 134305750 134305750 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 134305750 134305750 G A SNP TBPL1 ENST00000237264 human ensembl 74_37 +1 known missense c.422 p.R141Q 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 32 0 0 22 4 15.3846 HIVEP2 0 genome.wustl.edu 37 6 143093770 143093770 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 143093770 143093770 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.2106 p.S702 0.971 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 147 0 0 111 14 11.2 STX11 0 genome.wustl.edu 37 6 144507996 144507996 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 144507996 144507996 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.232 p.R78C 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 36 0 0 27 9 25 UTRN 0 genome.wustl.edu 37 6 144801088 144801088 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 144801088 144801088 A C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3477 p.E1159D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 103 0 0 56 22 28.2051 PACRG 0 genome.wustl.edu 37 6 163735984 163735984 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 163735984 163735984 G A SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.856 p.V286M 1.000 pfam_Parkin_co-regulated_protein pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 66 0 0 49 18 26.8657 DLL1 0 genome.wustl.edu 37 6 170592364 170592364 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 170592364 170592364 T G SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.2003 p.Q668P 0.661 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 32 0 0 21 10 32.2581 DLL1 0 genome.wustl.edu 37 6 170594140 170594140 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 170594140 170594140 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.1116 p.D372 0.551 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 92 0 0 44 9 16.9811 SOX4 0 genome.wustl.edu 37 6 21595667 21595667 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 21595667 21595667 G A SNP SOX4 ENST00000244745 human ensembl 74_37 +1 known missense c.902 p.G301D 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX4 HGNC ENSG00000124766 22 0 0 17 10 37.037 MDC1 0 genome.wustl.edu 37 6 30680604 30680604 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 30680604 30680604 C G SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.1115 p.S372T 0.502 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 106 1 0.934579 91 49 35 PTK7 0 genome.wustl.edu 37 6 43096749 43096749 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 43096749 43096749 G A SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known silent c.114 p.P38 0.017 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,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 - no_errors PTK7 HGNC ENSG00000112655 80 0 0 85 7 7.6087 KHDRBS2 0 genome.wustl.edu 37 6 62390958 62390958 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 6 62390958 62390958 T A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.960 p.E320D 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 53 0 0 36 8 18.1818 PTPRZ1 0 genome.wustl.edu 37 7 121650904 121650904 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 121650904 121650904 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1804 p.N602D 0.929 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 34 0 0 36 15 29.4118 GRM8 0 genome.wustl.edu 37 7 126086287 126086287 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 126086287 126086287 T G SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2570 p.K857T 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 102 0 0 106 25 19.084 GCC1 0 genome.wustl.edu 37 7 127223170 127223170 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 127223170 127223170 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1226 p.A409V 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 96 0 0 69 24 25.8065 DGKI 0 genome.wustl.edu 37 7 137096916 137096916 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 137096916 137096916 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.2823 p.K941 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 47 0 0 42 12 22.2222 OR9A4 0 genome.wustl.edu 37 7 141619330 141619330 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 141619330 141619330 G A SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.655 p.A219T 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 107 0 0 96 20 17.2414 LRRC61 0 genome.wustl.edu 37 7 150034324 150034324 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 150034324 150034324 A C SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known missense c.374 p.E125A 0.426 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 36 0 0 29 8 21.6216 KMT2C 0 genome.wustl.edu 37 7 151927304 151927304 + Splice_Site SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 151927304 151927304 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known splice_site c.2871+1 e17+1 1.000 - - - no_errors KMT2C HGNC ENSG00000055609 41 0 0 21 4 16 NOM1 0 genome.wustl.edu 37 7 156762348 156762348 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 156762348 156762348 C G SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.2534 p.A845G 0.858 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 145 0 0 119 31 20.6667 NME8 0 genome.wustl.edu 37 7 37907454 37907454 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 37907454 37907454 G A SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.772 p.V258I 0.000 superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 50 0 0 21 9 30 SDK1 0 genome.wustl.edu 37 7 4218127 4218127 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 4218127 4218127 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5007 p.K1669N 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 184 0 0 173 23 11.7347 SDK1 0 genome.wustl.edu 37 7 4247869 4247869 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 4247869 4247869 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5353 p.G1785R 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 63 0 0 46 8 14.8148 URGCP 0 genome.wustl.edu 37 7 43917267 43917267 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 43917267 43917267 T C SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.1795 p.T599A 0.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 92 0 0 82 24 22.6415 VSTM2A 0 genome.wustl.edu 37 7 54612434 54612434 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 54612434 54612434 C T SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.196 p.R66W 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 35 0 0 26 10 27.7778 ZNF716 0 genome.wustl.edu 37 7 57529438 57529438 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 57529438 57529438 A G SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1271 p.K424R 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 ZNF716 HGNC ENSG00000182111 14 0 0 16 5 23.8095 TYW1 0 genome.wustl.edu 37 7 66479483 66479483 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 66479483 66479483 C A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.505 p.L169M 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 179 1 0.555556 165 46 21.8009 GTF2IRD2P1 0 genome.wustl.edu 37 7 72683282 72683282 + RNA SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 72683282 72683282 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.631 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 103 0 0 101 20 16.5289 PCLO 0 genome.wustl.edu 37 7 82545713 82545713 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 82545713 82545713 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11589 p.E3863D 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 298 1 0.334448 242 74 23.4177 COL1A2 0 genome.wustl.edu 37 7 94038121 94038121 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 7 94038121 94038121 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.778 p.A260T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 47 0 0 24 8 25 RIMS2 0 genome.wustl.edu 37 8 105235985 105235985 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 105235985 105235985 T C SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known missense c.106 p.F36L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 25 0 0 11 11 50 FAM135B 0 genome.wustl.edu 37 8 139263121 139263121 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 139263121 139263121 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.505 p.H169Y 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 113 0 0 114 14 10.9375 KCTD9 0 genome.wustl.edu 37 8 25301820 25301820 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 25301820 25301820 C G SNP KCTD9 ENST00000221200 human ensembl 74_37 -1 known missense c.202 p.E68Q 1.000 NULL pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 36 0 0 20 7 25.9259 SDAD1P1 0 genome.wustl.edu 37 8 26238487 26238487 + RNA SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 26238487 26238487 A G SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors SDAD1P1 HGNC ENSG00000228451 50 0 0 30 16 34.7826 BHLHE22 0 genome.wustl.edu 37 8 65494391 65494391 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 65494391 65494391 G A SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.1044 p.P348 0.944 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 15 0 0 15 7 31.8182 CYP7B1 0 genome.wustl.edu 37 8 65536986 65536986 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 8 65536986 65536986 C G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.233 p.G78A 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 79 0 0 116 10 7.93651 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899268 112899268 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 9 112899268 112899268 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1444 p.E482K 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 44 0 0 43 5 10.4167 PAPPA 0 genome.wustl.edu 37 9 118973933 118973933 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 9 118973933 118973933 A C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1640 p.N547T 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 64 0 0 45 16 26.2295 RXRA 0 genome.wustl.edu 37 9 137300121 137300121 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 9 137300121 137300121 G A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.406 p.A136T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 59 0 0 42 3 6.66667 ADAMTSL1 0 genome.wustl.edu 37 9 18706804 18706804 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 9 18706804 18706804 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.1634 p.R545Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 14 0 0 11 3 21.4286 DCAF12L2 0 genome.wustl.edu 37 X 125298766 125298766 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 125298766 125298766 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1142 p.K381T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 66 0 0 40 33 45.2055 FRMPD4 0 genome.wustl.edu 37 X 12627882 12627882 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 12627882 12627882 G A SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.201 p.E67 0.988 superfamily_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 50 0 0 27 24 47.0588 GABRE 0 genome.wustl.edu 37 X 151123878 151123878 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 151123878 151123878 T G SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.1099 p.N367H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 38 0 0 27 10 27.027 PNMA3 0 genome.wustl.edu 37 X 152226465 152226465 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 152226465 152226465 A T SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.1053 p.E351D 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 29 0 0 12 11 47.8261 RPGR 0 genome.wustl.edu 37 X 38176655 38176655 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 38176655 38176655 C G SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.533 p.S178T 0.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 15 0 0 25 3 10.7143 MED12 0 genome.wustl.edu 37 X 70347218 70347218 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 70347218 70347218 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.2882 p.R961Q 0.998 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 38 0 0 18 9 33.3333 KLHL4 0 genome.wustl.edu 37 X 86887303 86887303 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 86887303 86887303 T C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1418 p.V473A 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 38 0 0 28 16 36.3636 CPXCR1 0 genome.wustl.edu 37 X 88008710 88008710 + Nonsense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 88008710 88008710 A T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known nonsense c.295 p.K99* 0.062 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 14 0 0 6 12 66.6667 SRY 0 genome.wustl.edu 37 Y 2655179 2655179 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a Y 2655179 2655179 C T SNP SRY ENST00000383070 human ensembl 74_37 -1 known missense c.466 p.E156K 0.237 pirsf_TF_Sry pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_TF_Sry,pfscan_HMG_box_dom - no_errors SRY HGNC ENSG00000184895 15 0 0 4 7 63.6364 ARHGEF19 0 genome.wustl.edu 37 1 16535145 16535147 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 16535145 16535147 CTT - DEL ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known in_frame_del c.405_403 p.K135in_frame_del 0.989:0.999:1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 20 0 0 16 3 15.7895 ARID1A 0 genome.wustl.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 1 27105930 27105931 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.5541_5542 p.D1849fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 123 0 0 116 24 17.1429 KIF11 0 genome.wustl.edu 37 10 94409609 94409610 + Frame_Shift_Del DEL AA AA - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 10 94409609 94409610 AA - DEL KIF11 ENST00000260731 human ensembl 74_37 +1 known frame_shift_del c.2788_2789 p.S931fs 1.000:0.991 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 89 0 0 67 28 29.4737 MCF2L 0 genome.wustl.edu 37 13 113556598 113556598 + Frame_Shift_Del DEL A A - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 13 113556598 113556598 A - DEL MCF2L ENST00000375608 human ensembl 74_37 +1 known frame_shift_del c.82 p.K29fs 0.000 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 35 0 0 20 2 9.09091 RHOJ 0 genome.wustl.edu 37 14 63757714 63757715 + Frame_Shift_Ins INS - - G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 14 63757714 63757715 - G INS RHOJ ENST00000316754 human ensembl 74_37 +1 known frame_shift_ins c.617_618 p.H208fs 0.000:0.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 90 0 0 82 9 9.89011 NPAP1 0 genome.wustl.edu 37 15 24922934 24922934 + Frame_Shift_Del DEL A A - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 15 24922934 24922934 A - DEL NPAP1 ENST00000329468 human ensembl 74_37 +1 known frame_shift_del c.1920 p.E642fs 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 125 0 0 92 10 9.80392 SLC7A6OS 0 genome.wustl.edu 37 16 68335220 68335222 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 16 68335220 68335222 CTT - DEL SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known in_frame_del c.888_886 p.K296in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 157 0 0 113 18 13.7405 IMMT 0 genome.wustl.edu 37 2 86385683 86385684 + RNA INS - - A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 86385683 86385684 - A INS IMMT ENST00000490238 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors IMMT HGNC ENSG00000132305 8 0 0 4 2 33.3333 RNF103 0 genome.wustl.edu 37 2 86847542 86847543 + In_Frame_Ins INS - - TGC TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 2 86847542 86847543 - TGC INS RNF103 ENST00000237455 human ensembl 74_37 -1 known in_frame_ins c.277_276 p.92in_frame_insA 0.997:0.983 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 53 0 0 69 6 8 DYNC1LI1 0 genome.wustl.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a 3 32571050 32571050 T - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.1288 p.I430fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 18 0 0 17 2 10.5263 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 29 0 0 21 2 8.69565 XIST 0 genome.wustl.edu 37 X 73071940 73071941 + RNA INS - - A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a X 73071940 73071941 - A INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.568:0.531 - - - no_errors XIST HGNC ENSG00000229807 9 0 0 4 3 42.8571