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 JARID1A 5927 genome.wustl.edu 36 12 308267 308267 + Missense_Mutation SNP G G C novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 12 308267 308267 G C SNP JARID1A NM_001042603 human genbank 54_36p -1 reviewed missense c.1963 p.Q655E 1.000 NULL HMMSmart_SM00545,HMMSmart_SM00501,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00558 - no_errors OR51B5 282763 genome.wustl.edu 36 11 5320674 5320674 + Silent SNP T T A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 11 5320674 5320674 T A SNP OR51B5 NM_001005567 human genbank 54_36p -1 provisional silent c.657 p.I219 0.002 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KAL1 3730 genome.wustl.edu 36 X 8482030 8482030 + Silent SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 X 8482030 8482030 G T SNP KAL1 NM_000216 human genbank 54_36p -1 reviewed silent c.1317 p.G439 0.289 HMMSmart_FN3 superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors PAK7 57144 genome.wustl.edu 36 20 9471271 9471271 + Missense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 20 9471271 9471271 G A SNP PAK7 NM_020341 human genbank 54_36p -1 reviewed missense c.1966 p.R656W 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ST,HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors MYH2 4620 genome.wustl.edu 36 17 10365335 10365335 + Missense_Mutation SNP A A T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 17 10365335 10365335 A T SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.5813 p.I1938K 0.776 NULL HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors DNAH9 1770 genome.wustl.edu 36 17 11698389 11698389 + Silent SNP C C A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 17 11698389 11698389 C A SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed silent c.9852 p.P3284 1.000 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 - no_errors PLA2G2C 391013 genome.wustl.edu 36 1 20371895 20371895 + Missense_Mutation SNP T T G novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 1 20371895 20371895 T G SNP PLA2G2C NM_001105572 human genbank 54_36p -1 inferred missense c.265 p.I89L 0.009 HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 PatternScan_PA2_HIS,HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2,PatternScan_PA2_ASP - no_errors CHEK2 11200 genome.wustl.edu 36 22 27413975 27413975 + Splice_Site SNP C A A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 22 27413975 27413975 C A SNP CHEK2 NM_001005735 human genbank 54_36p -1 reviewed splice_site c.1672-1 e15-1 0.992 - - - no_errors TRNAU1AP 54952 genome.wustl.edu 36 1 28777579 28777579 + RNA SNP T T C novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 1 28777579 28777579 T C SNP TRNAU1AP NR_003109 human genbank 54_36p +1 validated rna NULL NULL 0.000 - - - no_errors ENSG00000172533 0 genome.wustl.edu 36 16 29003299 29003299 + Missense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 16 29003299 29003299 G A SNP ENSG00000172533 ENST00000327307 human ensembl 54_36p +1 known missense c.491 p.R164H 0.991 NULL NULL - no_start_codon:no_stop_codon KIF13B 23303 genome.wustl.edu 36 8 29095374 29095374 + Missense_Mutation SNP A A T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 8 29095374 29095374 A T SNP KIF13B NM_015254 human genbank 54_36p -1 validated missense c.566 p.L189Q 1.000 HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors TAF1L 138474 genome.wustl.edu 36 9 32623772 32623772 + Silent SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 9 32623772 32623772 G T SNP TAF1L NM_153809 human genbank 54_36p -1 provisional silent c.1806 p.T602 0.992 NULL HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors CDC2L5 8621 genome.wustl.edu 36 7 40094456 40094456 + Splice_Site SNP G G C novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 7 40094456 40094456 G C SNP CDC2L5 NM_003718 human genbank 54_36p +1 reviewed splice_site c.3235+1 e12+1 1.000 - - - no_errors SLC38A5 92745 genome.wustl.edu 36 X 48202876 48202876 + Missense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 X 48202876 48202876 G A SNP SLC38A5 NM_033518 human genbank 54_36p -1 validated missense c.1307 p.P436L 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors KLK11 11012 genome.wustl.edu 36 19 56219387 56219387 + Silent SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 19 56219387 56219387 G T SNP KLK11 ENST00000391804 human ensembl 54_36p -1 known silent c.264 p.S88 0.065 superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors LILRB4 11006 genome.wustl.edu 36 19 59871189 59871189 + Missense_Mutation SNP T T G novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 19 59871189 59871189 T G SNP LILRB4 NM_006847 human genbank 54_36p +1 reviewed missense c.1254 p.F418L 0.023 NULL superfamily_Immunoglobulin,HMMPfam_ig - no_errors CHD7 55636 genome.wustl.edu 36 8 61912082 61912082 + Missense_Mutation SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 8 61912082 61912082 G T SNP CHD7 NM_017780 human genbank 54_36p +1 reviewed missense c.4142 p.C1381F 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592 - no_errors ZIK1 284307 genome.wustl.edu 36 19 62793852 62793852 + Missense_Mutation SNP A A T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 19 62793852 62793852 A T SNP ZIK1 NM_001010879 human genbank 54_36p +1 provisional missense c.861 p.R287S 0.002 superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors ALMS1 7840 genome.wustl.edu 36 2 73532165 73532165 + Missense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 2 73532165 73532165 G A SNP ALMS1 NM_015120 human genbank 54_36p +1 reviewed missense c.5000 p.R1667K 0.000 NULL NULL - no_errors CCDC146 57639 genome.wustl.edu 36 7 76754705 76754705 + Missense_Mutation SNP C C G novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 7 76754705 76754705 C G SNP CCDC146 NM_020879 human genbank 54_36p +1 validated missense c.2290 p.L764V 0.993 NULL NULL - no_errors THBS4 7060 genome.wustl.edu 36 5 79391339 79391339 + Missense_Mutation SNP C C A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 5 79391339 79391339 C A SNP THBS4 NM_003248 human genbank 54_36p +1 reviewed missense c.842 p.A281E 0.028 NULL PatternScan_EGF_1,HMMSmart_TSPN,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,superfamily_ConA_like_lec_gl,HMMPfam_TSP_C - no_errors AKAP9 10142 genome.wustl.edu 36 7 91470134 91470134 + Silent SNP A A G novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 7 91470134 91470134 A G SNP AKAP9 NM_005751 human genbank 54_36p +1 reviewed silent c.2967 p.Q989 0.971 NULL PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil - no_errors HTR7 3363 genome.wustl.edu 36 10 92499131 92499131 + Missense_Mutation SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 10 92499131 92499131 G T SNP HTR7 NM_019859 human genbank 54_36p -1 reviewed missense c.740 p.A247E 0.800 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR13C8 138802 genome.wustl.edu 36 9 106371726 106371726 + Missense_Mutation SNP C C A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 9 106371726 106371726 C A SNP OR13C8 NM_001004483 human genbank 54_36p +1 provisional missense c.457 p.L153I 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000221149 0 genome.wustl.edu 36 2 106681463 106681463 + RNA SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 2 106681463 106681463 G A SNP ENSG00000221149 ENST00000408222 human ensembl 54_36p -1 novel rna NULL NULL 1.000 - - - no_errors VAV3 10451 genome.wustl.edu 36 1 107961752 107961752 + Missense_Mutation SNP A A T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 1 107961752 107961752 A T SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed missense c.1940 p.V647D 1.000 superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 HMMPfam_CH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1 - no_errors C6orf186 728464 genome.wustl.edu 36 6 110726938 110726938 + Silent SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 6 110726938 110726938 G A SNP C6orf186 ENST00000338882 human ensembl 54_36p -1 known silent c.666 p.H222 0.991 NULL NULL - no_errors CDK5RAP2 55755 genome.wustl.edu 36 9 122239448 122239448 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 9 122239448 122239448 G A SNP CDK5RAP2 NM_018249 human genbank 54_36p -1 reviewed nonsense c.3901 p.Q1301* 1.000 NULL HMMPfam_Microtub_assoc - no_errors PARP14 54625 genome.wustl.edu 36 3 123901709 123901709 + Missense_Mutation SNP C C A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 3 123901709 123901709 C A SNP PARP14 NM_017554 human genbank 54_36p +1 validated missense c.1618 p.P540T 0.000 NULL superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128132481 128132481 + Missense_Mutation SNP C T T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 12 128132481 128132481 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.1699 p.G567S 0.992 NULL NULL - no_errors TG 7038 genome.wustl.edu 36 8 134216148 134216148 + Missense_Mutation SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 8 134216148 134216148 G T SNP TG NM_003235 human genbank 54_36p +1 validated missense c.8235 p.L2745F 0.000 NULL superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors MGAM 8972 genome.wustl.edu 36 7 141408874 141408874 + Missense_Mutation SNP G G A novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 7 141408874 141408874 G A SNP MGAM NM_004668 human genbank 54_36p +1 reviewed missense c.4160 p.R1387H 0.952 HMMPfam_Glyco_hydro_31 HMMPfam_Trefoil,HMMPfam_Glyco_hydro_31 - no_errors LCE2A 353139 genome.wustl.edu 36 1 150938094 150938094 + Missense_Mutation SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 1 150938094 150938094 G T SNP LCE2A NM_178428 human genbank 54_36p +1 validated missense c.93 p.Q31H 0.964 NULL NULL - no_errors TTN 7273 genome.wustl.edu 36 2 179183319 179183319 + Missense_Mutation SNP G G T novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 2 179183319 179183319 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.39125 p.T13042N 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TRIM67 440730 genome.wustl.edu 36 1 229402622 229402622 + Silent SNP T T C novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 1 229402622 229402622 T C SNP TRIM67 NM_001004342 human genbank 54_36p +1 validated silent c.1369 p.L457 0.997 HMMSmart_SM00502 superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00502,HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449,HMMPfam_SPRY - no_errors NF1 4763 genome.wustl.edu 36 17 26584003 26584015 + Frame_Shift_Del DEL CAGTGGTCTCATG CAGTGGTCTCATG - novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 CAGTGGTCTCATG CAGTGGTCTCATG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 17 26584003 26584015 CAGTGGTCTCATG - DEL NF1 NM_001042492 human genbank 54_36p +1 reviewed frame_shift_del c.3474_3486 p.S1159fs 1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 (deletion:cds_exon[26583844,26584025]) no_errors RYR3 6263 genome.wustl.edu 36 15 31714100 31714111 + In_Frame_Del DEL CCCCGTCTGGTG CCCCGTCTGGTG - novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 CCCCGTCTGGTG CCCCGTCTGGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 15 31714100 31714111 CCCCGTCTGGTG - DEL RYR3 NM_001036 human genbank 54_36p +1 validated in_frame_del c.3049_3060 p.RLVP1018in_frame_del 1.000:1.000:0.997:1.000:1.000:0.862:0.904:0.997:0.997:1.000:1.000:1.000 HMMPfam_RyR HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans (deletion:cds_exon[31714079,31714226]) no_errors OR4C6 219432 genome.wustl.edu 36 11 55190101 55190108 + Frame_Shift_Del DEL GCCATGAA GCCATGAA - novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 GCCATGAA GCCATGAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 11 55190101 55190108 GCCATGAA - DEL OR4C6 NM_001004704 human genbank 54_36p +1 provisional frame_shift_del c.883_890 p.A295fs 0.020:0.018:0.022:0.046:0.064:0.027:0.009:0.006 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 (deletion:cds_exon[55189219,55190148]) no_errors LOC100132863 0 genome.wustl.edu 36 9 123322415 123322415 + RNA DEL C C - novel unknown TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6bc24f9b-1890-46f9-95b5-2113e4633a81 890b84f9-25a6-4f26-b662-dd110bfb1696 9 123322415 123322415 C - DEL LOC100132863 XR_039604 human genbank 54_36p -1 model rna NULL NULL 1.000 - - (deletion:rna[123321456,123322530]) pseudogene