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 PALMD 0 genome.wustl.edu 37 1 100152261 100152261 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 100152261 100152261 A C SNP PALMD ENST00000263174 human ensembl 74_37 +1 known missense c.281 p.K94T 0.955 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 151 0 0 96 57 37.2549 FRRS1 0 genome.wustl.edu 37 1 100203814 100203814 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 100203814 100203814 G A SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known missense c.587 p.S196L 0.714 NULL pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 120 0 0 89 24 21.2389 CDC14A 0 genome.wustl.edu 37 1 100949859 100949859 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 100949859 100949859 C T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.989 p.S330L 0.920 smart_Tyr_Pase_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 48 0 0 35 14 28.5714 TBX15 0 genome.wustl.edu 37 1 119428075 119428075 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 119428075 119428075 A G SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.771 p.S257 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 20 0 0 14 10 41.6667 NBPF12 0 genome.wustl.edu 37 1 146397414 146397414 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 146397414 146397414 C G SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known missense c.231 p.F77L 0.000 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 341 0 0 204 69 25.2747 PRCC 0 genome.wustl.edu 37 1 156756800 156756800 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 156756800 156756800 C T SNP PRCC ENST00000271526 human ensembl 74_37 +1 known missense c.917 p.T306M 0.891 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 231 0 0 144 57 28.3582 DUSP27 0 genome.wustl.edu 37 1 167095276 167095276 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 167095276 167095276 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.908 p.S303N 0.990 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 37 0 0 26 7 21.2121 ADCY10 0 genome.wustl.edu 37 1 167805735 167805735 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 167805735 167805735 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.3121 p.V1041I 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 227 0 0 155 67 30.1802 PADI3 0 genome.wustl.edu 37 1 17601163 17601163 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 17601163 17601163 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.1189 p.R397C 0.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 96 0 0 54 26 32.5 NAV1 0 genome.wustl.edu 37 1 201618005 201618005 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 201618005 201618005 G T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.209 p.G70V 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 46 0 0 38 11 22.449 HSPG2 0 genome.wustl.edu 37 1 22178378 22178378 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 22178378 22178378 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.6912 p.A2304 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 30 0 0 22 16 42.1053 TSNAX 0 genome.wustl.edu 37 1 231678314 231678314 + Silent SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 231678314 231678314 A T SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known silent c.324 p.L108 0.001 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSNAX HGNC ENSG00000116918 220 0 0 145 69 32.243 SLC35F3 0 genome.wustl.edu 37 1 234367425 234367425 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 234367425 234367425 G A SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known silent c.339 p.P113 0.058 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 268 0 0 236 15 5.9761 MAN1C1 0 genome.wustl.edu 37 1 26104716 26104716 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 26104716 26104716 G A SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 85 0 0 54 32 37.2093 ARID1A 0 genome.wustl.edu 37 1 27101054 27101054 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 27101054 27101054 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.4336 p.R1446* 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 166 1 0.598802 105 40 27.5862 CA6 0 genome.wustl.edu 37 1 9009453 9009453 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 9009453 9009453 T A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known missense c.211 p.Y71N 0.995 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 86 0 0 54 17 23.9437 TGFBR3 0 genome.wustl.edu 37 1 92184966 92184966 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 1 92184966 92184966 T G SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.1469 p.K490T 0.890 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 160 0 0 112 51 31.2883 PPRC1 0 genome.wustl.edu 37 10 103909733 103909733 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 103909733 103909733 T C SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.4942 p.S1648P 0.967 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 330 0 0 213 89 29.4702 STAM 0 genome.wustl.edu 37 10 17735260 17735260 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 17735260 17735260 A C SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.484 p.K162Q 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 166 0 0 126 61 32.6203 MYO3A 0 genome.wustl.edu 37 10 26482178 26482178 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 26482178 26482178 C T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.4483 p.R1495* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 111 0 0 43 48 52.7473 ZSWIM8 0 genome.wustl.edu 37 10 75556659 75556659 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 75556659 75556659 C T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.3161 p.A1054V 0.978 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 141 0 0 85 27 24.1071 PTEN 0 genome.wustl.edu 37 10 89692893 89692893 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 89692893 89692893 C A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.377 p.A126D 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 217 0 0 76 76 50 MUC5B 0 genome.wustl.edu 37 11 1279575 1279575 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 11 1279575 1279575 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16580 p.S5527L 0.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 46 0 0 28 12 30 C11orf94 0 genome.wustl.edu 37 11 45928464 45928464 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 11 45928464 45928464 G T SNP C11orf94 ENST00000449465 human ensembl 74_37 -1 known missense c.131 p.S44Y 0.208 NULL NULL - no_errors C11orf94 HGNC ENSG00000234776 121 0 0 76 17 18.2796 LOC440040 0 genome.wustl.edu 37 11 49597836 49597836 + RNA SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 11 49597836 49597836 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 83 0 0 57 34 37.3626 APLNR 0 genome.wustl.edu 37 11 57003375 57003375 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 11 57003375 57003375 T A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.1104 p.K368N 0.795 prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 113 0 0 52 22 29.7297 PIDD 0 genome.wustl.edu 37 11 799981 799981 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 11 799981 799981 C G SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.2308 p.A770P 0.000 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 54 0 0 37 10 21.2766 NOS1 0 genome.wustl.edu 37 12 117665383 117665383 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 12 117665383 117665383 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3469 p.E1157K 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 202 0 0 126 50 28.4091 ITPR2 0 genome.wustl.edu 37 12 26818914 26818914 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 12 26818914 26818914 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.1480 p.L494M 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 175 0 0 118 49 29.3413 NALCN 0 genome.wustl.edu 37 13 101747983 101747983 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 13 101747983 101747983 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3211 p.L1071 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 143 0 0 98 57 36.7742 NBEA 0 genome.wustl.edu 37 13 36124666 36124666 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 13 36124666 36124666 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6638 p.R2213Q 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 72 0 0 72 26 26.5306 KLHL1 0 genome.wustl.edu 37 13 70275859 70275859 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 13 70275859 70275859 C T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.2222 p.C741Y 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 75 0 0 81 18 18.1818 BAG5 0 genome.wustl.edu 37 14 104027227 104027227 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 14 104027227 104027227 A G SNP BAG5 ENST00000337322 human ensembl 74_37 -1 known missense c.398 p.I133T 0.019 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 375 1 0.265957 201 87 30.2083 OR4N2 0 genome.wustl.edu 37 14 20296526 20296526 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 14 20296526 20296526 G A SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.919 p.A307T 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 79 0 0 76 19 20 BUB1B 0 genome.wustl.edu 37 15 40462775 40462775 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 15 40462775 40462775 G A SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.319 p.G107R 1.000 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 147 0 0 128 51 28.4916 ATP8B4 0 genome.wustl.edu 37 15 50152452 50152452 + Nonsense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 15 50152452 50152452 A T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known nonsense c.3518 p.L1173* 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 343 0 0 243 118 32.687 MAP2K1 0 genome.wustl.edu 37 15 66774131 66774131 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 15 66774131 66774131 G A SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.607 p.E203K 1.000 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 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 MAP2K1 HGNC ENSG00000169032 209 0 0 135 73 35.0962 MEX3B 0 genome.wustl.edu 37 15 82335987 82335987 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 15 82335987 82335987 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.1224 p.S408 0.008 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 21 0 0 13 7 35 SSTR5 0 genome.wustl.edu 37 16 1129558 1129558 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 16 1129558 1129558 G A SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.690 p.A230 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 19 0 0 14 8 36.3636 ABCA3 0 genome.wustl.edu 37 16 2350053 2350053 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 16 2350053 2350053 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.1564 p.E522K 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 266 1 0.374532 153 89 36.7769 MYH1 0 genome.wustl.edu 37 17 10397924 10397924 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 10397924 10397924 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5533 p.R1845C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 280 0 0 174 60 25.641 CDRT1 0 genome.wustl.edu 37 17 15522558 15522558 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 15522558 15522558 G A SNP CDRT1 ENST00000395906 human ensembl 74_37 -1 known missense c.269 p.S90F 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 317 0 0 256 19 6.90909 PRPF8 0 genome.wustl.edu 37 17 1577953 1577953 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 1577953 1577953 A T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.3082 p.Y1028N 0.952 pfam_RRM_spliceosomal_PrP8 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 387 1 0.257732 218 80 26.8456 NOS2 0 genome.wustl.edu 37 17 26101464 26101464 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 26101464 26101464 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.1295 p.T432I 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 116 0 0 69 32 31.6832 ZNF830 0 genome.wustl.edu 37 17 33289127 33289127 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 33289127 33289127 G A SNP ZNF830 ENST00000361952 human ensembl 74_37 +1 known missense c.542 p.S181N 0.318 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 49 0 0 57 4 6.55738 HOXB9 0 genome.wustl.edu 37 17 46700468 46700468 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 46700468 46700468 G A SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known missense c.547 p.R183C 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 233 0 0 123 52 29.7143 MRC2 0 genome.wustl.edu 37 17 60769610 60769610 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 17 60769610 60769610 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.4238 p.A1413V 0.306 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 39 0 0 23 8 25.8065 MIB1 0 genome.wustl.edu 37 18 19383901 19383901 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 18 19383901 19383901 C T SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known nonsense c.1405 p.Q469* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 99 0 0 57 28 32.9412 ASXL3 0 genome.wustl.edu 37 18 31325922 31325922 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 18 31325922 31325922 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.6110 p.P2037L 0.052 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 14 0 0 10 8 44.4444 COLEC12 0 genome.wustl.edu 37 18 480756 480756 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 18 480756 480756 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.9 p.D3 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 72 0 0 67 17 20.2381 PTPRM 0 genome.wustl.edu 37 18 8076563 8076563 + Splice_Site SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 18 8076563 8076563 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known splice_site c.1551+1 e9+1 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 87 0 0 76 19 20 ELAVL3 0 genome.wustl.edu 37 19 11565632 11565632 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 11565632 11565632 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.813 p.A271 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 232 0 0 166 13 7.26257 GTPBP3 0 genome.wustl.edu 37 19 17450345 17450345 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 17450345 17450345 C T SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.1007 p.T336M 1.000 pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 79 0 0 35 27 43.5484 ANKRD27 0 genome.wustl.edu 37 19 33090904 33090904 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 33090904 33090904 G A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known silent c.2820 p.Y940 1.000 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 104 0 0 109 21 16.1538 CD22 0 genome.wustl.edu 37 19 35823667 35823667 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 35823667 35823667 G A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.252 p.K84 0.000 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 130 0 0 164 21 11.3514 NPAS1 0 genome.wustl.edu 37 19 47543774 47543774 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 47543774 47543774 G A SNP NPAS1 ENST00000594257 human ensembl 74_37 +1 known missense c.233 p.R78K 1.000 NULL NULL - no_errors NPAS1 HGNC ENSG00000130751 15 0 0 22 8 26.6667 KIR3DL1 0 genome.wustl.edu 37 19 55330051 55330051 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 55330051 55330051 A C SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.352 p.T118P 0.002 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 211 0 0 137 144 51.2456 ZFP28 0 genome.wustl.edu 37 19 57058966 57058966 + Missense_Mutation SNP G G C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 57058966 57058966 G C SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.390 p.K130N 0.002 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP28 HGNC ENSG00000196867 110 0 0 142 34 19.3182 PEG3 0 genome.wustl.edu 37 19 57328826 57328826 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 57328826 57328826 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.984 p.S328 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 169 0 0 189 55 22.541 PEG3 0 genome.wustl.edu 37 19 57335782 57335782 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 57335782 57335782 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.242 p.T81I 0.908 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 205 0 0 116 160 57.971 ZNF324 0 genome.wustl.edu 37 19 58982663 58982663 + Missense_Mutation SNP G G C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 19 58982663 58982663 G C SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.804 p.K268N 0.477 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 ZNF324 HGNC ENSG00000083812 41 0 0 47 10 17.5439 CNTNAP5 0 genome.wustl.edu 37 2 125547588 125547588 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 125547588 125547588 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.2859 p.R953 0.981 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 62 0 0 37 14 27.451 POTEF 0 genome.wustl.edu 37 2 130832580 130832580 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 130832580 130832580 A C SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2465 p.I822S 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 264 0 0 135 92 40.5286 RAB3GAP1 0 genome.wustl.edu 37 2 135926202 135926202 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 135926202 135926202 C A SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.2797 p.P933T 0.138 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 168 0 0 88 50 36.2319 TTN 0 genome.wustl.edu 37 2 179404632 179404632 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 179404632 179404632 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.90456 p.G30152 0.998 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 205 2 0.966184 172 59 25.5411 TTN 0 genome.wustl.edu 37 2 179553493 179553493 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 179553493 179553493 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28376 p.K9459T 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-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 104 0 0 61 37 37.7551 TTN 0 genome.wustl.edu 37 2 179590293 179590293 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 179590293 179590293 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16906 p.A5636T 0.980 pfam_Ig_I-set,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 109 0 0 79 34 30.0885 APOB 0 genome.wustl.edu 37 2 21252873 21252873 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 21252873 21252873 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1367 p.N456S 0.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 180 1 0.552486 84 36 30 MAT2A 0 genome.wustl.edu 37 2 85770889 85770889 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 85770889 85770889 A G SNP MAT2A ENST00000306434 human ensembl 74_37 +1 known silent c.1182 p.K394 1.000 superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 18 0 0 16 8 33.3333 KIAA1211L 0 genome.wustl.edu 37 2 99443575 99443575 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 2 99443575 99443575 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.598 p.D200N 0.987 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 206 0 0 104 51 32.9032 SIRPA 0 genome.wustl.edu 37 20 1902326 1902326 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 20 1902326 1902326 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.722 p.R241H 0.991 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 128 0 0 110 28 20.2899 DNTTIP1 0 genome.wustl.edu 37 20 44430674 44430674 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 20 44430674 44430674 G A SNP DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known missense c.535 p.D179N 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 95 0 0 77 20 20.6186 ZMYND8 0 genome.wustl.edu 37 20 45852980 45852980 + Nonsense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 20 45852980 45852980 G T SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known nonsense c.3267 p.C1089* 1.000 pfam_Znf_MYND,pfscan_Znf_MYND pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 155 0 0 137 51 27.1277 PRPF6 0 genome.wustl.edu 37 20 62654204 62654204 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 20 62654204 62654204 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1742 p.A581V 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 84 0 0 72 16 18.1818 MTMR3 0 genome.wustl.edu 37 22 30416326 30416326 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 22 30416326 30416326 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.2678 p.P893L 0.181 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 113 0 0 61 31 33.6957 DEPDC5 0 genome.wustl.edu 37 22 32218693 32218693 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 22 32218693 32218693 G A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2021 p.R674H 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 62 0 0 55 3 5.17241 PNPLA3 0 genome.wustl.edu 37 22 44335951 44335951 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 22 44335951 44335951 A G SNP PNPLA3 ENST00000216180 human ensembl 74_37 +1 known missense c.1058 p.Y353C 0.870 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 126 0 0 71 30 29.703 GTF2E1 0 genome.wustl.edu 37 3 120495484 120495484 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 120495484 120495484 G A SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known missense c.865 p.A289T 1.000 NULL pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 173 0 0 132 41 23.6994 FBLN2 0 genome.wustl.edu 37 3 13649665 13649665 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 13649665 13649665 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.1410 p.N470 0.021 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,pfscan_Anaphylatoxin/fibulin pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 18 0 0 10 4 28.5714 FBLN2 0 genome.wustl.edu 37 3 13679190 13679190 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 13679190 13679190 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.3467 p.A1156V 0.996 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 37 0 0 26 9 25.7143 MME 0 genome.wustl.edu 37 3 154866382 154866382 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 154866382 154866382 A T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1541 p.N514I 0.991 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 111 0 0 31 64 67.3684 TIPARP 0 genome.wustl.edu 37 3 156395626 156395626 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 156395626 156395626 G A SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.140 p.R47K 0.989 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 227 0 0 144 78 35.1351 SKIL 0 genome.wustl.edu 37 3 170102413 170102413 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 170102413 170102413 C T SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.1289 p.A430V 0.317 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 216 0 0 71 109 60.5556 PIK3CA 0 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 178916876 178916876 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 236 0 0 150 74 33.0357 PIK3CA 0 genome.wustl.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 178952074 178952074 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3129 p.M1043I 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 138 0 0 50 89 64.0288 MUC20 0 genome.wustl.edu 37 3 195453120 195453120 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 195453120 195453120 C A SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1646 p.A549E 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 79 0 0 61 19 23.75 ZNF660 0 genome.wustl.edu 37 3 44636501 44636501 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 3 44636501 44636501 A C SNP ZNF660 ENST00000322734 human ensembl 74_37 +1 known missense c.816 p.K272N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 140 1 0.70922 110 11 9.09091 SYNPO2 0 genome.wustl.edu 37 4 119978661 119978661 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 119978661 119978661 G A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.3358 p.D1120N 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 147 0 0 107 54 33.5404 FHDC1 0 genome.wustl.edu 37 4 153897817 153897817 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 153897817 153897817 G A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.3374 p.R1125H 0.010 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 14 0 0 14 6 30 AGA 0 genome.wustl.edu 37 4 178358635 178358635 + Nonsense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 178358635 178358635 G T SNP AGA ENST00000264595 human ensembl 74_37 -1 known nonsense c.546 p.Y182* 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 130 0 0 80 31 27.9279 OTOP1 0 genome.wustl.edu 37 4 4228418 4228418 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 4228418 4228418 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known silent c.174 p.A58 0.957 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 14 0 0 8 4 33.3333 ATP8A1 0 genome.wustl.edu 37 4 42414995 42414995 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 42414995 42414995 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.3433 p.V1145I 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 91 0 0 54 25 31.6456 MSX1 0 genome.wustl.edu 37 4 4864504 4864504 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 4864504 4864504 G A SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known silent c.546 p.A182 0.994 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 194 0 0 120 45 27.2727 MAN2B2 0 genome.wustl.edu 37 4 6602463 6602463 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 4 6602463 6602463 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1519 p.G507S 0.996 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 82 0 0 49 15 23.4375 CTNND2 0 genome.wustl.edu 37 5 11199625 11199625 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 11199625 11199625 C A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1910 p.G637V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 278 0 0 232 79 25.4019 PCDHA2 0 genome.wustl.edu 37 5 140175138 140175138 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 140175138 140175138 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.589 p.G197R 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 178 0 0 114 59 34.104 PCDHA4 0 genome.wustl.edu 37 5 140188221 140188221 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 140188221 140188221 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1449 p.D483 0.868 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 PCDHA4 HGNC ENSG00000204967 93 0 0 72 29 28.7129 PCDHB12 0 genome.wustl.edu 37 5 140589234 140589234 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 140589234 140589234 T G SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.755 p.L252R 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 322 1 0.309598 191 94 32.9825 ITK 0 genome.wustl.edu 37 5 156667170 156667170 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 156667170 156667170 C G SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.950 p.P317R 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 142 0 0 88 45 33.8346 GABRG2 0 genome.wustl.edu 37 5 161522503 161522503 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 161522503 161522503 A C SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.262 p.K88Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_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_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 69 0 0 53 11 17.1875 CDH12 0 genome.wustl.edu 37 5 21755818 21755818 + Silent SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 21755818 21755818 G T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.1767 p.V589 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 166 0 0 141 40 22.0994 NNT 0 genome.wustl.edu 37 5 43656015 43656015 + Silent SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 43656015 43656015 T G SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.2133 p.G711 0.252 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 145 0 0 90 36 28.5714 KIAA0947 0 genome.wustl.edu 37 5 5463516 5463516 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 5463516 5463516 G T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4069 p.D1357Y 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 33 0 0 33 9 21.4286 TMEM171 0 genome.wustl.edu 37 5 72424237 72424237 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 5 72424237 72424237 C T SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.661 p.P221S 0.999 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 553 1 0.180505 338 149 30.5955 CEP85L 0 genome.wustl.edu 37 6 118887330 118887330 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 118887330 118887330 T G SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.391 p.S131R 0.013 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 184 0 0 134 57 29.8429 RNF217 0 genome.wustl.edu 37 6 125397843 125397843 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 125397843 125397843 G T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.617 p.C206F 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 145 0 0 107 46 30.0654 NCR2 0 genome.wustl.edu 37 6 41304116 41304116 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 41304116 41304116 C A SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known missense c.344 p.S115Y 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 162 0 0 100 46 31.5068 HSP90AB1 0 genome.wustl.edu 37 6 44219805 44219805 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 44219805 44219805 T C SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1532 p.V511A 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 174 0 0 79 44 35.7724 ZNF292 0 genome.wustl.edu 37 6 87971005 87971005 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 87971005 87971005 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.7658 p.A2553V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 64 0 0 47 19 28.7879 MDN1 0 genome.wustl.edu 37 6 90459388 90459388 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 6 90459388 90459388 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.3489 p.A1163 0.953 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 288 0 0 221 55 19.9275 LHFPL3 0 genome.wustl.edu 37 7 104377336 104377336 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 7 104377336 104377336 G T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.660 p.E220D 0.998 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 41 0 0 17 19 52.7778 ASB15 0 genome.wustl.edu 37 7 123276952 123276952 + Nonsense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 7 123276952 123276952 A T SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known nonsense c.1684 p.K562* 0.995 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 170 0 0 124 27 17.8808 MPP6 0 genome.wustl.edu 37 7 24681385 24681385 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 7 24681385 24681385 C G SNP MPP6 ENST00000222644 human ensembl 74_37 +1 known missense c.168 p.N56K 1.000 smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,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 MPP6 HGNC ENSG00000105926 133 0 0 88 49 35.7664 ZNF716 0 genome.wustl.edu 37 7 57528910 57528910 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 7 57528910 57528910 A G SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.743 p.K248R 0.892 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 ZNF716 HGNC ENSG00000182111 56 0 0 37 15 28.8462 DCAF13 0 genome.wustl.edu 37 8 104427608 104427608 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 104427608 104427608 G A SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.390 p.G130 0.000 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 76 0 0 63 6 8.69565 BLK 0 genome.wustl.edu 37 8 11403589 11403589 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 11403589 11403589 C T SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.152 p.P51L 0.035 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 249 0 0 163 39 19.3069 TRPS1 0 genome.wustl.edu 37 8 116617160 116617160 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 116617160 116617160 A C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1036 p.F346V 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 175 0 0 118 60 33.7079 C8orf58 0 genome.wustl.edu 37 8 22459490 22459490 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 22459490 22459490 C T SNP C8orf58 ENST00000289989 human ensembl 74_37 +1 known silent c.663 p.P221 0.001 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 31 0 0 15 5 25 CSMD1 0 genome.wustl.edu 37 8 2820858 2820858 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 2820858 2820858 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9343 p.R3115C 0.812 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 194 0 0 146 72 33.0275 TACC1 0 genome.wustl.edu 37 8 38704287 38704287 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 38704287 38704287 C T SNP TACC1 ENST00000379931 human ensembl 74_37 +1 known missense c.2335 p.R779C 1.000 pfam_TACC pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 100 0 0 65 28 30.1075 IMPAD1 0 genome.wustl.edu 37 8 57905926 57905926 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 57905926 57905926 G A SNP IMPAD1 ENST00000262644 human ensembl 74_37 -1 known silent c.219 p.A73 0.767 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 35 0 0 20 11 35.4839 PREX2 0 genome.wustl.edu 37 8 69046341 69046341 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 69046341 69046341 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3814 p.V1272L 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 117 0 0 75 38 33.6283 PDP1 0 genome.wustl.edu 37 8 94935067 94935067 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 8 94935067 94935067 C T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known silent c.855 p.L285 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 177 0 0 138 57 29.2308 NR4A3 0 genome.wustl.edu 37 9 102590479 102590479 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 9 102590479 102590479 C A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.188 p.T63N 1.000 prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 114 0 0 65 31 32.2917 ZBTB26 0 genome.wustl.edu 37 9 125681219 125681219 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 9 125681219 125681219 C T SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known missense c.995 p.G332E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 234 0 0 134 51 27.5676 SPAG8 0 genome.wustl.edu 37 9 35809900 35809900 + RNA SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 9 35809900 35809900 T G SNP SPAG8 ENST00000479751 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors SPAG8 HGNC ENSG00000137098 325 1 0.306748 174 99 36.2637 VPS13A 0 genome.wustl.edu 37 9 79933352 79933352 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 9 79933352 79933352 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.5158 p.E1720K 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 205 0 0 131 67 33.8384 WWC3 0 genome.wustl.edu 37 X 10093130 10093130 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 10093130 10093130 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known silent c.1893 p.A631 0.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 23 0 0 20 4 16.6667 ARHGAP6 0 genome.wustl.edu 37 X 11308531 11308531 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 11308531 11308531 A C SNP ARHGAP6 ENST00000380732 human ensembl 74_37 -1 known missense c.656 p.F219C 0.006 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 217 0 0 128 55 30.0546 BCORL1 0 genome.wustl.edu 37 X 129185952 129185952 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 129185952 129185952 T G SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.5036 p.L1679R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 264 0 0 155 77 33.1897 F8 0 genome.wustl.edu 37 X 154088774 154088774 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 154088774 154088774 T G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.6833 p.E2278A 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 348 0 0 230 95 29.2308 CLCN5 0 genome.wustl.edu 37 X 49846487 49846487 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 49846487 49846487 G A SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.916 p.E306K 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 74 0 0 75 6 7.40741 ITIH6 0 genome.wustl.edu 37 X 54823454 54823454 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 54823454 54823454 A T SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.178 p.F60I 0.997 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 165 0 0 95 41 30.1471 NLGN4X 0 genome.wustl.edu 37 X 5810979 5810979 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 5810979 5810979 T A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2390 p.N797I 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 173 0 0 121 41 25.3086 VSIG4 0 genome.wustl.edu 37 X 65242139 65242139 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 65242139 65242139 T G SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known missense c.1166 p.E389A 0.616 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 140 0 0 112 17 13.1783 PCDH11X 0 genome.wustl.edu 37 X 91132785 91132785 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 91132785 91132785 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1546 p.D516Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 158 0 0 131 53 28.8043 NDUFB8 0 genome.wustl.edu 37 10 102286167 102286170 + Frame_Shift_Del DEL AGAC AGAC - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 10 102286167 102286170 AGAC - DEL NDUFB8 ENST00000299166 human ensembl 74_37 -1 known frame_shift_del c.457_454 p.V152fs 1.000:0.868:0.121:0.000 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 - no_errors NDUFB8 HGNC ENSG00000166136 34 0 0 38 6 13.6364 OR4N2 0 genome.wustl.edu 37 14 20296524 20296524 + Frame_Shift_Del DEL T T - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 14 20296524 20296524 T - DEL OR4N2 ENST00000315947 human ensembl 74_37 +1 known frame_shift_del c.917 p.I306fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 82 0 0 92 13 12.381 LIPI 0 genome.wustl.edu 37 21 15517057 15517057 + Frame_Shift_Del DEL A A - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 21 15517057 15517057 A - DEL LIPI ENST00000344577 human ensembl 74_37 -1 known frame_shift_del c.1245 p.F415fs 0.591 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 168 0 0 143 40 21.8579 TNFRSF13C 0 genome.wustl.edu 37 22 42321482 42321484 + In_Frame_Del DEL AGG AGG - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 22 42321482 42321484 AGG - DEL TNFRSF13C ENST00000291232 human ensembl 74_37 -1 known in_frame_del c.444_442 p.P148in_frame_del 0.000:0.031:0.038 NULL pfam_TNFR_13C_TALL-1-bd,prints_TNFR_13C - no_errors TNFRSF13C HGNC ENSG00000159958 124 0 0 71 15 17.4419 PRRG3 0 genome.wustl.edu 37 X 150869083 150869084 + Frame_Shift_Ins INS - - T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 X 150869083 150869084 - T INS PRRG3 ENST00000370353 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.I93fs 1.000:1.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 493 0 0 301 123 29.0094