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 ENSG00000215615 0 genome.wustl.edu 36 NT_113889 39891 39891 + Silent SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c NT_113889 39891 39891 G A SNP ENSG00000215615 ENST00000400681 human ensembl 54_36p -1 known silent c.426 p.R142 NULL HMMPfam_Tektin HMMPfam_Tektin - no_stop_codon LOC100134205 0 genome.wustl.edu 36 6 4419946 4419946 + Nonsense_Mutation SNP T A A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 4419946 4419946 T A SNP LOC100134205 XM_001716692 human genbank 54_36p -1 model nonsense c.163 p.K55* 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon AKR1C4 1109 genome.wustl.edu 36 10 5237730 5237730 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 5237730 5237730 C T SNP AKR1C4 NM_001818 human genbank 54_36p +1 reviewed missense c.380 p.T127M 0.003 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3 - no_errors LAMA1 284217 genome.wustl.edu 36 18 7022153 7022153 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 18 7022153 7022153 C T SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.2186 p.R729H 0.989 superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00180,PatternScan_EGF_LAM_1 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ATG7 10533 genome.wustl.edu 36 3 11315845 11315845 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 3 11315845 11315845 C T SNP ATG7 NM_006395 human genbank 54_36p +1 validated missense c.170 p.A57V 0.895 NULL superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF - no_errors LOC441956 441956 genome.wustl.edu 36 21 13973879 13973879 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 21 13973879 13973879 G T SNP LOC441956 NM_001013729 human genbank 54_36p -1 predicted missense c.323 p.P108H 0.394 NULL NULL - no_errors LOC644637 644637 genome.wustl.edu 36 22 14742633 14742633 + RNA SNP C T T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 22 14742633 14742633 C T SNP LOC644637 XR_017623 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene MAP1S 55201 genome.wustl.edu 36 19 17699637 17699637 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 19 17699637 17699637 G T SNP MAP1S NM_018174 human genbank 54_36p +1 validated missense c.2444 p.G815V 0.001 NULL NULL - no_errors SMC6 79677 genome.wustl.edu 36 2 17753450 17753450 + Silent SNP A A G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 17753450 17753450 A G SNP SMC6 NM_024624 human genbank 54_36p -1 validated silent c.1782 p.D594 0.996 HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ENSG00000161132 0 genome.wustl.edu 36 22 18674183 18674183 + Silent SNP C C A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 22 18674183 18674183 C A SNP ENSG00000161132 ENST00000292728 human ensembl 54_36p +1 known silent c.138 p.P46 0.005 HMMPfam_Pro_dh HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase - no_start_codon ENSG00000181984 0 genome.wustl.edu 36 15 19031800 19031800 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 15 19031800 19031800 G T SNP ENSG00000181984 ENST00000318268 human ensembl 54_36p +1 known missense c.372 p.E124D 0.887 NULL NULL - no_errors LOC728498 728498 genome.wustl.edu 36 15 28693113 28693113 + Silent SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 15 28693113 28693113 C T SNP LOC728498 XM_001724395 human genbank 54_36p +1 model silent c.1275 p.G425 0.856 NULL NULL - no_errors MAGEB3 4114 genome.wustl.edu 36 X 30164590 30164590 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 30164590 30164590 G T SNP MAGEB3 NM_002365 human genbank 54_36p +1 reviewed missense c.628 p.V210L 0.632 HMMPfam_MAGE HMMPfam_MAGE - no_errors ENSG00000209612 0 genome.wustl.edu 36 11 31813835 31813835 + RNA SNP C A A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 11 31813835 31813835 C A SNP ENSG00000209612 ENST00000386877 human ensembl 54_36p +1 novel rna NULL NULL 0.002 - - - pseudogene NOTCH4 4855 genome.wustl.edu 36 6 32288332 32288332 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 32288332 32288332 G T SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed nonsense c.2577 p.C859* 0.946 HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_NODP,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors RASGRP3 25780 genome.wustl.edu 36 2 33637403 33637403 + Missense_Mutation SNP G G C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 33637403 33637403 G C SNP RASGRP3 NM_170672 human genbank 54_36p +1 validated missense c.1866 p.E622D 1.000 NULL HMMSmart_SM00229,superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1 - no_errors CRKRS 51755 genome.wustl.edu 36 17 34900362 34900362 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 34900362 34900362 C T SNP CRKRS NM_016507 human genbank 54_36p +1 validated missense c.1958 p.P653L 0.997 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors KRTAP4-2 85291 genome.wustl.edu 36 17 36587840 36587840 + Missense_Mutation SNP A A T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 36587840 36587840 A T SNP KRTAP4-2 NM_033062 human genbank 54_36p -1 reviewed missense c.103 p.C35S 1.000 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors STRC 161497 genome.wustl.edu 36 15 41697135 41697135 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 15 41697135 41697135 G A SNP STRC NM_153700 human genbank 54_36p -1 reviewed missense c.776 p.T259I 0.992 NULL NULL - no_errors GABRA4 2557 genome.wustl.edu 36 4 46689650 46689650 + Missense_Mutation SNP C C G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 4 46689650 46689650 C G SNP GABRA4 NM_000809 human genbank 54_36p -1 reviewed missense c.157 p.D53H 1.000 superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors GPR116 221395 genome.wustl.edu 36 6 46932600 46932600 + Missense_Mutation SNP A A G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 46932600 46932600 A G SNP GPR116 NM_001098518 human genbank 54_36p -1 validated missense c.3779 p.L1260S 0.593 HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors KRT3 3850 genome.wustl.edu 36 12 51472766 51472766 + Missense_Mutation SNP T T C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 12 51472766 51472766 T C SNP KRT3 NM_057088 human genbank 54_36p -1 reviewed missense c.1019 p.D340G 0.981 HMMPfam_Filament,superfamily_Prefoldin HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors AMHR2 269 genome.wustl.edu 36 12 52104899 52104899 + Silent SNP T T G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 12 52104899 52104899 T G SNP AMHR2 NM_020547 human genbank 54_36p +1 validated silent c.372 p.P124 0.993 superfamily_Snake toxin-like superfamily_Snake toxin-like,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 - no_errors SMC1A 8243 genome.wustl.edu 36 X 53425886 53425886 + Silent SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 53425886 53425886 G T SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed silent c.3429 p.A1143 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge - no_errors TEAD2 8463 genome.wustl.edu 36 19 54552336 54552336 + Silent SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 19 54552336 54552336 G T SNP TEAD2 NM_003598 human genbank 54_36p -1 provisional silent c.345 p.I115 0.982 HMMPfam_TEA HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1 - no_errors ENSG00000221007 0 genome.wustl.edu 36 20 55927495 55927495 + RNA SNP T C C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 20 55927495 55927495 T C SNP ENSG00000221007 ENST00000408080 human ensembl 54_36p +1 novel rna NULL NULL 0.006 - - - no_errors FPR3 2359 genome.wustl.edu 36 19 57019744 57019744 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 19 57019744 57019744 G A SNP FPR3 NM_002030 human genbank 54_36p +1 validated missense c.931 p.E311K 0.992 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 - no_errors DNAH12L 375347 genome.wustl.edu 36 3 57463097 57463097 + Missense_Mutation SNP C C G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 3 57463097 57463097 C G SNP DNAH12L ENST00000311202 human ensembl 54_36p -1 known missense c.1236 p.E412D 0.839 NULL NULL - no_errors ANK3 288 genome.wustl.edu 36 10 61504072 61504072 + Silent SNP A A T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 61504072 61504072 A T SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed silent c.6573 p.P2191 0.012 NULL superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors SYNE2 23224 genome.wustl.edu 36 14 63526956 63526956 + Silent SNP A A G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 14 63526956 63526956 A G SNP SYNE2 NM_182914 human genbank 54_36p +1 validated silent c.2388 p.Q796 0.012 NULL superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors ABCA5 23461 genome.wustl.edu 36 17 64762115 64762115 + Missense_Mutation SNP G C C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 64762115 64762115 G C SNP ABCA5 NM_018672 human genbank 54_36p -1 reviewed missense c.4180 p.H1394D 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors CD300LF 146722 genome.wustl.edu 36 17 70210871 70210871 + Missense_Mutation SNP G A A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 70210871 70210871 G A SNP CD300LF ENST00000361254 human ensembl 54_36p -1 known missense c.398 p.T133I 0.006 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors NODAL 4838 genome.wustl.edu 36 10 71865394 71865394 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 71865394 71865394 G A SNP NODAL NM_018055 human genbank 54_36p -1 reviewed missense c.545 p.P182L 0.000 NULL superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1 - no_errors KLF5 688 genome.wustl.edu 36 13 72534136 72534136 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 13 72534136 72534136 G T SNP KLF5 NM_001730 human genbank 54_36p +1 reviewed missense c.398 p.S133I 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors EXOC6B 23233 genome.wustl.edu 36 2 72822087 72822087 + Missense_Mutation SNP C C G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 72822087 72822087 C G SNP EXOC6B NM_015189 human genbank 54_36p -1 validated missense c.133 p.E45Q 1.000 NULL HMMPfam_Sec15 - no_errors DNAH17 8632 genome.wustl.edu 36 17 74008896 74008896 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 17 74008896 74008896 G T SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.5433 p.N1811K 1.000 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors LOC643562 643562 genome.wustl.edu 36 6 80831775 80831775 + RNA SNP A A C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 80831775 80831775 A C SNP LOC643562 XR_016539 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene ADAMTSL3 57188 genome.wustl.edu 36 15 82443004 82443004 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 15 82443004 82443004 G T SNP ADAMTSL3 NM_207517 human genbank 54_36p +1 validated missense c.3620 p.R1207M 0.004 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC - no_errors MMRN2 79812 genome.wustl.edu 36 10 88693709 88693709 + Missense_Mutation SNP T T C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 88693709 88693709 T C SNP MMRN2 NM_024756 human genbank 54_36p -1 validated missense c.812 p.Q271R 0.001 NULL HMMPfam_EMI,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q - no_errors COL15A1 1306 genome.wustl.edu 36 9 100818212 100818212 + Missense_Mutation SNP G G C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 9 100818212 100818212 G C SNP COL15A1 NM_001855 human genbank 54_36p +1 reviewed missense c.1637 p.W546S 0.001 NULL superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_Endostatin - no_errors C2orf29 55571 genome.wustl.edu 36 2 101247897 101247897 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 101247897 101247897 G T SNP C2orf29 NM_017546 human genbank 54_36p +1 validated missense c.991 p.A331S 1.000 NULL HMMPfam_DUF2363 - no_errors RELN 5649 genome.wustl.edu 36 7 103022067 103022067 + Missense_Mutation SNP G G C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 7 103022067 103022067 G C SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.3648 p.D1216E 1.000 NULL HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase - no_errors MLL5 55904 genome.wustl.edu 36 7 104534324 104534324 + Missense_Mutation SNP A A C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 7 104534324 104534324 A C SNP MLL5 NM_018682 human genbank 54_36p +1 reviewed missense c.2716 p.M906L 0.582 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain - no_errors TCP11L2 255394 genome.wustl.edu 36 12 105229031 105229031 + Silent SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 12 105229031 105229031 C T SNP TCP11L2 NM_152772 human genbank 54_36p +1 provisional silent c.48 p.S16 0.991 NULL HMMPfam_Tcp11 - no_errors RGPD4 285190 genome.wustl.edu 36 2 107844503 107844503 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 107844503 107844503 G A SNP RGPD4 ENST00000354986 human ensembl 54_36p +1 known missense c.2080 p.D694N 1.000 NULL superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_SM00755 - no_errors LOC100130892 0 genome.wustl.edu 36 7 107937991 107937991 + Missense_Mutation SNP C C A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 7 107937991 107937991 C A SNP LOC100130892 XM_001725978 human genbank 54_36p +1 model missense c.79 p.L27M 0.849 HMMPfam_Ribosomal_L30_N HMMPfam_Ribosomal_L30_N,HMMPfam_Ribosomal_L30,superfamily_Ribosomal_L30,PatternScan_RIBOSOMAL_L30 - pseudogene SLC5A7 60482 genome.wustl.edu 36 2 107991523 107991523 + Missense_Mutation SNP A A C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 107991523 107991523 A C SNP SLC5A7 NM_021815 human genbank 54_36p +1 provisional missense c.1066 p.S356R 1.000 HMMPfam_SSF PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF - no_errors ACSL4 2182 genome.wustl.edu 36 X 108789327 108789327 + Silent SNP T T C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 108789327 108789327 T C SNP ACSL4 NM_022977 human genbank 54_36p -1 reviewed silent c.1890 p.K630 0.992 superfamily_Acetyl-CoA synthetase-like superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors MCF2L 23263 genome.wustl.edu 36 13 112786348 112786348 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 13 112786348 112786348 G A SNP MCF2L NM_024979 human genbank 54_36p +1 validated missense c.2021 p.C674Y 1.000 superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF HMMSmart_SEC14,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors KIAA1210 57481 genome.wustl.edu 36 X 118104727 118104727 + Silent SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 118104727 118104727 G A SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated silent c.4494 p.T1498 0.000 NULL NULL - no_errors WDYHV1 55093 genome.wustl.edu 36 8 124509357 124509357 + Silent SNP T T A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 8 124509357 124509357 T A SNP WDYHV1 NM_018024 human genbank 54_36p +1 provisional silent c.96 p.I32 0.995 HMMPfam_WDYHV HMMPfam_WDYHV - no_errors LOC646547 646547 genome.wustl.edu 36 3 137938024 137938024 + RNA SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 3 137938024 137938024 G A SNP LOC646547 XR_017127 human genbank 54_36p -1 model rna NULL NULL 0.966 - - - pseudogene MCF2 4168 genome.wustl.edu 36 X 138561599 138561599 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 138561599 138561599 G A SNP MCF2 ENST00000370578 human ensembl 54_36p -1 known missense c.226 p.L76F 0.015 NULL HMMSmart_SEC14,superfamily_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors HIPK2 28996 genome.wustl.edu 36 7 138966966 138966966 + Missense_Mutation SNP G G T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 7 138966966 138966966 G T SNP HIPK2 ENST00000263551 human ensembl 54_36p -1 known missense c.1149 p.D383E 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_start_codon EPM2A 7957 genome.wustl.edu 36 6 145998104 145998104 + Missense_Mutation SNP A A C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 145998104 145998104 A C SNP EPM2A NM_005670 human genbank 54_36p -1 reviewed missense c.688 p.W230G 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc superfamily_Starch-binding domain-like,HMMPfam_CBM_20,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00195,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1 - no_errors FCGR1A 2209 genome.wustl.edu 36 1 148029542 148029542 + Missense_Mutation SNP G G C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 1 148029542 148029542 G C SNP FCGR1A NM_000566 human genbank 54_36p +1 reviewed missense c.970 p.D324H 0.532 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors PGLYRP3 114771 genome.wustl.edu 36 1 151549722 151549722 + Missense_Mutation SNP A A G novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 1 151549722 151549722 A G SNP PGLYRP3 NM_052891 human genbank 54_36p -1 provisional missense c.44 p.L15P 0.000 NULL superfamily_Amidase_2,HMMSmart_PGRP,HMMPfam_Amidase_2,HMMSmart_Ami_2 - no_errors CLRN1 7401 genome.wustl.edu 36 3 152172983 152172983 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 3 152172983 152172983 C T SNP CLRN1 NM_174878 human genbank 54_36p -1 reviewed missense c.203 p.G68E 1.000 NULL NULL - no_errors MARCH1 55016 genome.wustl.edu 36 4 164753915 164753915 + Splice_Site SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 4 164753915 164753915 C T SNP MARCH1 NM_017923 human genbank 54_36p -1 validated splice_site c.191+1 e1+1 1.000 - - - no_errors SLC2A2 6514 genome.wustl.edu 36 3 172198573 172198573 + Missense_Mutation SNP G G A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 3 172198573 172198573 G A SNP SLC2A2 NM_000340 human genbank 54_36p -1 reviewed missense c.1388 p.P463L 0.920 superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179351943 179351943 + Missense_Mutation SNP C C T novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 179351943 179351943 C T SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.4111 p.G1371R 1.000 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors LOC645978 645978 genome.wustl.edu 36 2 206983462 206983462 + RNA SNP G G C novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 2 206983462 206983462 G C SNP LOC645978 XR_017572 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene CNR2 1269 genome.wustl.edu 36 1 24074083 24074106 + In_Frame_Del DEL TCCGGAAAAGAGGAAGGCGATGAA TCCGGAAAAGAGGAAGGCGATGAA - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 TCCGGAAAAGAGGAAGGCGATGAA TCCGGAAAAGAGGAAGGCGATGAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 1 24074083 24074106 TCCGGAAAAGAGGAAGGCGATGAA - DEL CNR2 NM_001841 human genbank 54_36p -1 reviewed in_frame_del c.612_589 p.FIAFLFSG197in_frame_del 0.992:0.966:0.900:0.001:0.000:0.000:0.011:0.982:0.987:0.995:1.000:1.000:0.698:0.614:0.215:0.040:0.007:0.001:0.001:0.322:0.319:0.321:0.366:0.163 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 (deletion:cds_exon[24073612,24074694]) no_errors RRP7A 27341 genome.wustl.edu 36 22 41240629 41240630 + Splice_Site INS - - A novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 22 41240629 41240630 - A INS RRP7A NM_015703 human genbank 54_36p -1 provisional splice_site_ins c.558+2_558+1 e5+2 0.024:0.975 - - - no_errors GPR116 221395 genome.wustl.edu 36 6 46938594 46938610 + Frame_Shift_Del DEL TGGAGCAGACTGTTTAT TGGAGCAGACTGTTTAT - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 TGGAGCAGACTGTTTAT TGGAGCAGACTGTTTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 6 46938594 46938610 TGGAGCAGACTGTTTAT - DEL GPR116 NM_001098518 human genbank 54_36p -1 validated frame_shift_del c.2189_2173 p.I725fs 0.030:0.116:0.702:0.984:1.000:1.000:0.998:0.978:0.919:0.815:0.780:0.769:0.860:0.881:0.883:0.936:0.934 NULL PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 (deletion:cds_exon[46938584,46938792]) no_errors WNK3 65267 genome.wustl.edu 36 X 54376530 54376561 + Frame_Shift_Del DEL CCACCTCTCAACACATTTGAAGGAAGCTTATC CCACCTCTCAACACATTTGAAGGAAGCTTATC - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 CCACCTCTCAACACATTTGAAGGAAGCTTATC CCACCTCTCAACACATTTGAAGGAAGCTTATC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c X 54376530 54376561 CCACCTCTCAACACATTTGAAGGAAGCTTATC - DEL WNK3 NM_020922 human genbank 54_36p -1 validated frame_shift_del c.302_271 p.D91fs 0.998:0.997:0.952:0.951:0.885:0.563:0.258:0.168:0.139:0.641:0.641:0.635:0.777:0.941:0.966:0.987:0.994:0.993:0.988:0.873:0.850:0.889:0.880:0.872:0.827:0.750:0.746:0.762:0.780:0.820:0.978:0.991 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST (deletion:cds_exon[54376295,54376831]) no_errors KDR 3791 genome.wustl.edu 36 4 55655844 55655846 + In_Frame_Del DEL GTA GTA - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 GTA GTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 4 55655844 55655846 GTA - DEL KDR NM_002253 human genbank 54_36p -1 validated in_frame_del c.2853_2851 p.Y951in_frame_del 0.522:0.984:0.993 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR (deletion:cds_exon[55655726,55655879]) no_errors GNRHR 2798 genome.wustl.edu 36 4 68302362 68302386 + Frame_Shift_Del DEL GGCATGACAATCAGAGTCTCCAACA GGCATGACAATCAGAGTCTCCAACA - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 GGCATGACAATCAGAGTCTCCAACA GGCATGACAATCAGAGTCTCCAACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 4 68302362 68302386 GGCATGACAATCAGAGTCTCCAACA - DEL GNRHR NM_000406 human genbank 54_36p -1 reviewed frame_shift_del c.287_263 p.L88fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:0.999:1.000:0.992:0.985:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.959:0.961:1.000 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 (deletion:cds_exon[68302127,68302648]) no_errors COL13A1 1305 genome.wustl.edu 36 10 71232305 71232325 + In_Frame_Del DEL GAGTCCAGGGTCGTGCGGGCT GAGTCCAGGGTCGTGCGGGCT - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 GAGTCCAGGGTCGTGCGGGCT GAGTCCAGGGTCGTGCGGGCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 71232305 71232325 GAGTCCAGGGTCGTGCGGGCT - DEL COL13A1 NM_005203 human genbank 54_36p +1 reviewed in_frame_del c.120_140 p.SPGSCGL41in_frame_del 0.049:0.042:0.029:0.007:0.008:0.011:0.018:0.117:0.303:0.425:0.432:0.467:0.530:0.941:0.965:0.979:0.996:0.999:1.000:1.000:1.000 NULL HMMPfam_Collagen (deletion:cds_exon[71232186,71232479]) no_errors DLG5 9231 genome.wustl.edu 36 10 79251196 79251235 + Frame_Shift_Del DEL TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 10 79251196 79251235 TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT - DEL DLG5 NM_004747 human genbank 54_36p -1 reviewed frame_shift_del c.3052_3013 p.K1005fs 1.000:0.995:1.000:1.000:1.000:1.000:1.000:0.991:1.000:1.000:0.989:0.997:0.997:0.957:1.000:1.000:0.998:1.000:1.000:0.452:0.997:0.997:0.976:0.982:0.963:0.453:0.462:0.313:0.273:0.524:0.856:0.389:0.264:0.270:0.175:0.399:0.485:0.512:0.542:0.548 NULL superfamily_DEATH domain,HMMPfam_CARD,HMMPfam_DUF622,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,PatternScan_RCC1_2,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C (deletion:cds_exon[79250846,79251865]) no_errors FAM129B 64855 genome.wustl.edu 36 9 129309387 129309392 + In_Frame_Del DEL CCGCCC CCGCCC - novel unknown TCGA-29-1711-01A-01W-0633-09 TCGA-29-1711-10A-01W-0633-09 CCGCCC CCGCCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 39ddd936-df31-4268-9b57-3e0fac1bc69b 72feb979-d793-4e9d-acd7-4b315ef6f80c 9 129309387 129309392 CCGCCC - DEL FAM129B NM_022833 human genbank 54_36p -1 validated in_frame_del c.1799_1794 p.GG599in_frame_del 0.004:0.000:0.000:0.000:0.001:0.000 NULL superfamily_SSF50729,HMMSmart_PH (deletion:cds_exon[129308945,129309531]) no_errors