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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain CATSPER4 378807 genome.wustl.edu 37 1 26524495 26524495 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_198137.1 +1 validated p.R202Q 1.000 51 0% 49 26.5% - - probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PDE4B 5142 genome.wustl.edu 37 1 66833737 66833737 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001037341.1 +1 reviewed p.D551N 1.000 38 0% 49 32.7% - - probably_damaging(0.986) tolerated(0.08) deleterious(0.734) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like CDC14A 8556 genome.wustl.edu 37 1 100964704 100964704 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_033312.2 +1 reviewed p.L547 0.997 27 0% 50 30% - - - - - NULL KIAA1324 57535 genome.wustl.edu 37 1 109734081 109734081 + Silent SNP C C G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_020775.3 +1 validated p.L511 1.000 92 0% 111 45.9% - - - - - superfamily_Growth factor receptor domain CELSR2 1952 genome.wustl.edu 37 1 109814335 109814335 + Silent SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001408.2 +1 reviewed p.T2639 0.991 26 0% 16 50% - - - - - NULL SMG7 9887 genome.wustl.edu 37 1 183485014 183485015 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_173156.2 +1 validated p.K23fs 1.000:1.000 - - - - - - - - - NULL ACP1 52 genome.wustl.edu 37 2 277454 277454 + RNA SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NR_024080.1 +1 reviewed NULL 0.183 11 0% 20 40% - - - - - - ENSG00000247626 0 genome.wustl.edu 37 2 198572076 198572077 + RNA INS - - TTC rs34688524 byCluster;by1000genomes TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 ENST00000499940 -1 novel NULL 0.000:0.000 - - - - - - - - - - SUMO1 7341 genome.wustl.edu 37 2 203096448 203096448 + Missense_Mutation SNP A A C rs150201912 by1000genomes TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 ENST00000409627 -1 known p.L7R 1.000 4 0.000 8 0.750 - - unknown(0) - - NULL RBM15B 29890 genome.wustl.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_013286.3 +1 validated p.H668in_frame_del 1.000:1.000:0.998 - - - - - - - - - NULL SLC9A10 285335 genome.wustl.edu 37 3 111996659 111996659 + Missense_Mutation SNP G G T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_183061.1 -1 validated p.L123I 0.042 30 0% 28 14.3% - - probably_damaging(0.959) tolerated(0.45) neutral(0.415) HMMPfam_Na_H_Exchanger PLXNA1 5361 genome.wustl.edu 37 3 126741047 126741047 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_032242.3 +1 validated p.N1365fs 0.192 - - - - - - - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl C4orf33 132321 genome.wustl.edu 37 4 130023848 130023848 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001099783.1 +1 validated p.R28K 0.001 67 0% 73 16.4% - - benign(0) tolerated(0.9) - NULL NSA2 10412 genome.wustl.edu 37 5 74069756 74069756 + Missense_Mutation SNP A A C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_014886.3 +1 provisional p.I196L 1.000 35 0% 40 30% - - benign(0.039) deleterious(0.02) neutral(0.385) HMMPfam_Ribosomal_S8e GTF3C6 112495 genome.wustl.edu 37 6 111288854 111288854 + Frame_Shift_Del DEL T T - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_138408.3 +1 validated p.Q169fs 0.011 - - - - - - - - - NULL POLM 27434 genome.wustl.edu 37 7 44118367 44118367 + Missense_Mutation SNP C C G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_013284.2 -1 validated p.R229P 0.000 41 0% 47 42.6% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMSmart_POLXc,superfamily_DNApol_B_N_like DMTF1 9988 genome.wustl.edu 37 7 86823183 86823183 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001142327.1 +1 reviewed p.S598F 1.000 27 0% 23 30.4% - - benign(0.011) deleterious(0) neutral(0.445) NULL ZNF746 155061 genome.wustl.edu 37 7 149174749 149174749 + Silent SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_152557.4 -1 validated p.A206 0.468 20 0% 17 52.9% - - - - - NULL ZNF775 285971 genome.wustl.edu 37 7 150094994 150094994 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_173680.3 +1 validated p.P475 0.917 5 0.000 5 0.800 - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NRG1 3084 genome.wustl.edu 37 8 32474383 32474383 + Frame_Shift_Del DEL A A - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_013956.3 +1 reviewed p.G162fs 1.000 - - - - - - - - - NULL EYA1 2138 genome.wustl.edu 37 8 72182017 72182017 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_000503.4 -1 reviewed p.F336 1.000 70 0% 84 40.5% - - - - - HMMPfam_Hydrolase COLEC10 10584 genome.wustl.edu 37 8 120079636 120079636 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_006438.3 +1 reviewed p.C39Y 1.000 63 0% 78 10.3% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37762100 37762100 + Missense_Mutation SNP A A G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_144964.2 +1 validated p.T58A 0.000 18 0% 15 46.7% - - possibly_damaging(0.484) tolerated(0.06) deleterious(0.483) NULL PIP5K1B 8395 genome.wustl.edu 37 9 71606100 71606100 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_003558.2 +1 validated p.T516I 1.000 70 0% 57 24.6% - - benign(0.009) tolerated(0.2) neutral(0.050) NULL COL27A1 85301 genome.wustl.edu 37 9 116930622 116930622 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_032888.2 +1 validated p.D263N 0.006 17 0% 20 50% - - probably_damaging(0.955) tolerated(0.24) neutral(0.436) NULL COL5A1 1289 genome.wustl.edu 37 9 137709665 137709665 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_000093.3 +1 reviewed p.A1409fs 1.000 - - - - - - - - - HMMPfam_Collagen GLT6D1 360203 genome.wustl.edu 37 9 138516299 138516299 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_182974.2 -1 provisional p.A159T 0.000 16 0% 19 47.4% - - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Glyco_transf_6,superfamily_SSF53448 CDH23 64072 genome.wustl.edu 37 10 73553196 73553196 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_022124.5 +1 reviewed p.R2171C 1.000 20 0% 23 39.1% - - benign(0.006) deleterious(0.02) neutral(0.383) HMMSmart_SM00112,superfamily_Cadherin-like SLK 9748 genome.wustl.edu 37 10 105770578 105770578 + Missense_Mutation SNP T T C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_014720.2 +1 provisional p.I930T 0.916 29 0% 45 37.8% - - benign(0.03) tolerated(0.12) neutral(0.262) superfamily_Protein kinase-like (PK-like) BRSK2 9024 genome.wustl.edu 37 11 1466584 1466584 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_003957.2 +1 validated p.S291 0.867 6 0.000 7 0.857 - - - - - superfamily_Kinase_like DNHD1 144132 genome.wustl.edu 37 11 6578614 6578616 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_144666.2 +1 provisional p.E2700in_frame_del 0.006:0.004:0.000 - - - - - - - - - NULL HCAR3 8843 genome.wustl.edu 37 12 123201277 123201277 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_006018.2 -1 validated p.R3Q 0.000 44 0% 23 73.9% - - benign(0.003) tolerated(0.14) neutral(0.249) superfamily_Family A G protein-coupled receptor-like TEX26 122046 genome.wustl.edu 37 13 31540372 31540372 + Missense_Mutation SNP G G C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_152325.1 +1 predicted p.K161N 0.002 38 0% 49 46.9% - - probably_damaging(0.99) tolerated(0.21) deleterious(0.485) NULL TDRD3 81550 genome.wustl.edu 37 13 61103305 61103305 + Missense_Mutation SNP G G T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_030794.2 +1 validated p.W556L 1.000 18 0% 18 33.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT DOCK9 23348 genome.wustl.edu 37 13 99567641 99567641 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001130049.1 -1 validated p.I279 1.000 68 0% 103 16.5% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KLHL28 54813 genome.wustl.edu 37 14 45415030 45415030 + Silent SNP G G C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_017658.3 -1 validated p.L34 1.000 24 0% 28 25% - - - - - superfamily_POZ domain,HMMPfam_BTB HERC2 8924 genome.wustl.edu 37 15 28506067 28506067 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_004667.4 -1 reviewed p.T725fs 0.888 - - - - - - - - - superfamily_RCC1/BLIP-II NEDD4 4734 genome.wustl.edu 37 15 56134138 56134138 + Missense_Mutation SNP G G C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_198400.2 -1 validated p.S958C 1.000 41 0% 42 14.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT ZNF774 342132 genome.wustl.edu 37 15 90903404 90903404 + Missense_Mutation SNP G G T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001004309.2 +1 validated p.G114V 0.000 26 0% 23 26.1% - - benign(0) tolerated(0.2) neutral(0.049) NULL CLDN9 9080 genome.wustl.edu 37 16 3063638 3063638 + Missense_Mutation SNP T T A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_020982.3 +1 reviewed p.L92Q 0.996 22 0% 23 65.2% - - possibly_damaging(0.823) deleterious(0.02) deleterious(0.695) HMMPfam_PMP22_Claudin CLEC18A 348174 genome.wustl.edu 37 16 69996892 69996892 + Missense_Mutation SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_182619.2 +1 validated p.V409M 1.000 92 1.1% 103 31.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 FA2H 79152 genome.wustl.edu 37 16 74750273 74750273 + Silent SNP G G A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_024306.4 -1 reviewed p.V337 0.998 33 0% 56 14.3% - - - - - HMMPfam_FA_hydroxylase RTN4RL1 146760 genome.wustl.edu 37 17 1840681 1840681 + Silent SNP A A G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_178568.2 -1 validated p.F145 0.000 19 0% 11 54.5% - - - - - HMMSmart_SM00369,superfamily_L domain-like CACNB1 782 genome.wustl.edu 37 17 37331450 37331450 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_000723.3 -1 reviewed p.R598H 1.000 24 0% 32 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTLL6 284076 genome.wustl.edu 37 17 46876995 46876995 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001130918.1 -1 validated p.D247N 1.000 68 0% 68 26.5% - - benign(0.075) tolerated(0.3) neutral(0.034) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like USP36 57602 genome.wustl.edu 37 17 76798549 76798554 + In_Frame_Del DEL TTTTTC TTTTTC - rs148052919 byCluster;by1000genomes TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 TTTTTC TTTTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_025090.3 -1 validated p.KK959in_frame_del 0.178:0.173:0.043:0.038:0.100:0.107 - - - - - - - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3102527 3102527 + Missense_Mutation SNP C C A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_003803.3 -1 reviewed p.D1174Y 1.000 67 0% 61 32.8% - - possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOXHD1 125336 genome.wustl.edu 37 18 44102099 44102099 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_144612.6 -1 reviewed p.A1406T 0.030 29 0% 39 53.8% - - benign(0.017) tolerated(0.68) neutral(0.003) superfamily_Lipase_LipOase OR7D4 125958 genome.wustl.edu 37 19 9325265 9325265 + Silent SNP C C G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_001005191.1 -1 provisional p.V83 0.011 36 0% 57 26.3% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF440 126070 genome.wustl.edu 37 19 11942220 11942220 + Missense_Mutation SNP G G T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_152357.2 +1 validated p.D77Y 0.001 63 0% 104 19.2% - - benign(0.008) tolerated(0.51) neutral(0.009) NULL LSR 51599 genome.wustl.edu 37 19 35758275 35758276 + In_Frame_Ins INS - - GGA rs79703261 TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_205834.2 +1 validated p.520in_frame_insR 0.950:0.994 - - - - - - - - - NULL PTOV1 53635 genome.wustl.edu 37 19 50363365 50363365 + Missense_Mutation SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 ENST00000221557 +1 known p.T333M 1.000 16 0% 21 42.9% - - probably_damaging(0.983) - - NULL PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_014225.5 +1 reviewed p.P179R 1.000 15 0% 13 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat JAG1 182 genome.wustl.edu 37 20 10632263 10632264 + Frame_Shift_Ins INS - - CACT novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_000214.2 -1 reviewed p.C362fs 1.000:1.000 - - - - - - - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 ZNF41 7592 genome.wustl.edu 37 X 47307646 47307646 + Missense_Mutation SNP G G C novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_007130.2 -1 reviewed p.T508R 0.000 108 0% 91 45.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RGAG1 57529 genome.wustl.edu 37 X 109697388 109697388 + Silent SNP C C T novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_020769.2 +1 validated p.D1181 0.006 72 0% 70 35.7% - - - - - NULL ZBTB33 10009 genome.wustl.edu 37 X 119388102 119388102 + Missense_Mutation SNP C C A novel TCGA-B5-A0K8-01A-11D-A14K-09 TCGA-B5-A0K8-10B-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 554b9439-7e11-43ec-8bc3-448c59100b9e bf7e7f52-7089-43fe-aa23-0c2d24a44b53 NM_006777.3 +1 reviewed p.P278T 1.000 41 0% 53 35.8% - - benign(0.046) tolerated(0.24) neutral(0.040) NULL