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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FLT1 2321 broad.mit.edu 37 13 28959130 28959130 + Missense_Mutation SNP G G A rs115349395 by1000genomes TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr13:28959130G>A ENST00000282397.4 - 14 2259 c.2008C>T c.(2008-2010)Cac>Tac p.H670Y FLT1_ENST00000541932.1_Missense_Mutation_p.H670Y NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 670 Ig-like C2-type 7. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCCACTGTGTGATCACTGAGG 0.438000 20 93 0 0 0.008871 0 0 WDR24 84219 broad.mit.edu 37 16 735547 735547 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr16:735547C>T ENST00000293883.4 - 7 2488 c.1729G>A c.(1729-1731)Gag>Aag p.E577K WDR24_ENST00000248142.6_Missense_Mutation_p.E707K NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 707 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) TCCACGATCTCGTGGCGCAGC 0.711000 9 22 0 0 0.004482 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364686 47364686 + Nonsense_Mutation SNP C C A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:47364686C>A ENST00000545968.1 - 15 1291 c.1237G>T c.(1237-1239)Gag>Tag p.E413* MYBPC3_ENST00000399249.2_Nonsense_Mutation_p.E413*|MYBPC3_ENST00000256993.4_Nonsense_Mutation_p.E412* NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 412 Ig-like C2-type 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CCGATGGACTCAAAGATGTAC 0.647000 5 15 3.59834e-05 3.80694e-05 0.001168 1 0 ZNF285 26974 broad.mit.edu 37 19 44891738 44891738 + Missense_Mutation SNP A A C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:44891738A>C ENST00000330997.4 - 4 733 c.669T>G c.(667-669)aaT>aaG p.N223K CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.N230K|ZNF285_ENST00000544719.2_Missense_Mutation_p.N223K NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CATGGGCCGCATTACGTTTTT 0.468000 17 64 0 0 0.004990 0 0 MVP 9961 broad.mit.edu 37 16 29847108 29847108 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr16:29847108C>T ENST00000357402.5 + 6 799 c.661C>T c.(661-663)Ctt>Ttt p.L221F MVP_ENST00000452209.2_Missense_Mutation_p.P35L|MVP_ENST00000395353.1_Missense_Mutation_p.L221F NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 221 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CGCCGTCATCCTTACGGAAAA 0.577000 12 28 0 0 0.010729 0 0 CNTN6 27255 broad.mit.edu 37 3 1427434 1427434 + Missense_Mutation SNP G G T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:1427434G>T ENST00000446702.2 + 20 3284 c.2657G>T c.(2656-2658)gGg>gTg p.G886V CNTN6_ENST00000350110.2_Missense_Mutation_p.G886V|CNTN6_ENST00000539053.1_Missense_Mutation_p.G814V Q9UQ52 CNTN6_HUMAN contactin 6 886 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACACTGCTGGGACAGGGCCC 0.448000 18 128 3.51602e-12 3.83088e-12 0.008871 1 0 AMHR2 269 broad.mit.edu 37 12 53818187 53818187 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53818187C>T ENST00000257863.4 + 2 245 c.165C>T c.(163-165)tgC>tgT p.C55C AMHR2_ENST00000550311.1_Silent_p.C55C|AMHR2_ENST00000379791.3_Silent_p.C55C NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 55 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CTATCCGCTGCCTCTACAGCC 0.562000 41 26 0 0 0.005524 0 0 PRKRA 8575 broad.mit.edu 37 2 179296927 179296927 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:179296927G>A ENST00000325748.4 - 8 1039 c.839C>T c.(838-840)cCc>cTc p.P280L AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000454488.1_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.P255L|PRKRA_ENST00000438687.3_Missense_Mutation_p.P167L|PRKRA_ENST00000432031.2_Missense_Mutation_p.P269L NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 280 DRBM 3.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) GACTGTGATGGGGCTGGTGGA 0.423000 7 58 0 0 0.003080 0 0 CD63 967 broad.mit.edu 37 12 56120694 56120694 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120694C>T ENST00000549117.1 - 4 746 c.310G>A c.(310-312)Ggc>Agc p.G104S CD63_ENST00000548898.1_Missense_Mutation_p.G11S|CD63_ENST00000420846.3_Missense_Mutation_p.G104S|CD63_ENST00000548160.1_Missense_Mutation_p.G11S|CD63_ENST00000552692.1_Missense_Mutation_p.G104S|CD63_ENST00000552754.1_Missense_Mutation_p.G81S|CD63_ENST00000546939.1_Missense_Mutation_p.G22S|CD63_ENST00000257857.4_Missense_Mutation_p.G104S|CD63_ENST00000550776.1_Missense_Mutation_p.G22S|CD63_ENST00000552067.1_Missense_Mutation_p.G11S NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 104 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 AACACATAGCCAGCAATGGCT 0.507000 185 139 0 0 0.003610 0 0 EIF4G3 8672 broad.mit.edu 37 1 21155695 21155695 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:21155695C>T ENST00000602326.1 - 29 4565 c.3982G>A c.(3982-3984)Gaa>Aaa p.E1328K EIF4G3_ENST00000536266.1_Missense_Mutation_p.E926K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1322K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1042K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1328K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1322K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E812K NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1322 MI. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTCACCAGTTCAGCAAGGTAC 0.388000 12 62 0 0 0.003163 0 0 RNF165 494470 broad.mit.edu 37 18 44013175 44013175 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr18:44013175G>A ENST00000269439.7 + 2 135 c.84G>A c.(82-84)caG>caA p.Q28Q RNF165_ENST00000543885.1_Intron NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 28 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) AAAGGTCTCAGCATCCTCACG 0.682000 6 18 0 0 0.003080 0 0 RTTN 25914 broad.mit.edu 37 18 67742749 67742749 + Missense_Mutation SNP C C G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr18:67742749C>G ENST00000255674.6 - 33 4689 c.4403G>C c.(4402-4404)gGc>gCc p.G1468A RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.G1468A NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1468 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAGCGATAGGCCAGAGTCCTC 0.423000 16 70 0 0 0.004007 0 0 FAM168A 23201 broad.mit.edu 37 11 73141787 73141787 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:73141787G>A ENST00000064778.4 - 3 383 c.99C>T c.(97-99)gcC>gcT p.A33A FAM168A_ENST00000356467.4_Silent_p.A33A|FAM168A_ENST00000450446.2_Silent_p.A33A Q92567 F168A_HUMAN family with sequence similarity 168, member A 33 endometrium(3)|kidney(1)|lung(1) 5 TGTAGGCAGGGGCAGCTGCTG 0.463000 34 75 0 0 0.003271 0 0 DSCAM 1826 broad.mit.edu 37 21 41414529 41414529 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:41414529C>T ENST00000400454.1 - 32 5932 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1819 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGGCGTGTTCGTAGGCCCTG 0.527000 28 60 0 0 0.006320 0 0 GPR112 139378 broad.mit.edu 37 X 135427472 135427472 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chrX:135427472C>T ENST00000394143.1 + 6 1898 c.1607C>T c.(1606-1608)tCt>tTt p.S536F GPR112_ENST00000287534.4_Missense_Mutation_p.S473F|GPR112_ENST00000412101.1_Missense_Mutation_p.S331F|GPR112_ENST00000394141.1_Missense_Mutation_p.S331F|GPR112_ENST00000370652.1_Missense_Mutation_p.S536F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 536 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAGGATGTCTCTTTACCCAGA 0.433000 9 21 0 0 0.004482 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299402 117299402 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:117299402C>T ENST00000321322.6 - 33 5985 c.5984G>A c.(5983-5985)cGa>cAa p.R1995Q DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1725Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1935 Pro-rich. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGGTAGGTTCGAGCCAGGTT 0.677000 7 22 0 0 0.001984 0 0 KIAA1211 57482 broad.mit.edu 37 4 57180998 57180998 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:57180998C>T ENST00000504228.1 + 6 1435 c.1330C>T c.(1330-1332)Cac>Tac p.H444Y KIAA1211_ENST00000264229.6_Missense_Mutation_p.H444Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.H437Y Q6ZU35 K1211_HUMAN KIAA1211 444 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ACAAAGAGAACACTCCGAGGA 0.612000 5 21 0 0 0.001984 0 0 DSP 1832 broad.mit.edu 37 6 7568801 7568801 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr6:7568801C>T ENST00000379802.3 + 11 1739 c.1398C>T c.(1396-1398)ctC>ctT p.L466L DSP_ENST00000418664.2_Silent_p.L466L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 466 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCAGAGCTCTCTGTGACTACA 0.383000 14 40 0 0 0.004990 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220647 50220647 + Silent SNP C C T rs145957797 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:50220647C>T ENST00000002829.3 + 11 1531 c.1047C>T c.(1045-1047)gaC>gaT p.D349D SEMA3F_ENST00000413852.1_Silent_p.D250D|SEMA3F_ENST00000434342.1_Silent_p.D318D NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 349 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) AGACCCAGGACGTGAGGAACC 0.632000 9 72 0 0 0.010729 0 0 ZEB2 9839 broad.mit.edu 37 2 145161624 145161624 + Silent SNP G G A rs146662449 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:145161624G>A ENST00000558170.2 - 6 1850 c.666C>T c.(664-666)cgC>cgT p.R222R ZEB2_ENST00000539609.3_Silent_p.R198R|ZEB2_ENST00000409487.3_Silent_p.R222R|ZEB2_ENST00000303660.4_Silent_p.R222R NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 222 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GTGATGTCAAGCGCTTGTAGC 0.557000 23 90 0 0 0.002780 0 0 CRTAM 56253 broad.mit.edu 37 11 122726544 122726544 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:122726544C>T ENST00000227348.4 + 5 679 c.632C>T c.(631-633)cCc>cTc p.P211L NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 211 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CTAGTAGCACCCTTCCGGTTT 0.368000 7 28 0 0 0.001984 0 0 WAPAL 23063 broad.mit.edu 37 10 88230843 88230843 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr10:88230843G>A ENST00000298767.5 - 8 2520 c.2048C>T c.(2047-2049)aCt>aTt p.T683I NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 683 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GGCACATTTAGTAGCCAAGCT 0.423000 21 17 0 0 0.004656 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365337 128365337 + Missense_Mutation SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:128365337A>T ENST00000262462.4 + 9 2630 c.1620A>T c.(1618-1620)aaA>aaT p.K540N SLC27A6_ENST00000506176.1_Missense_Mutation_p.K540N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.K540N Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 540 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ATTTGGAAAAAGTTTATGAAC 0.294000 15 34 0 0 0.003163 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179321569 179321569 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:179321569C>T ENST00000356834.3 - 4 431 c.394G>A c.(394-396)Gag>Aag p.E132K TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E132K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 132 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity p.E132K(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGGGGTCCTCGTCTCCCTGG 0.572000 14 87 0 0 0.002450 0 0 XIRP2 129446 broad.mit.edu 37 2 168100621 168100621 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:168100621G>A ENST00000409195.1 + 9 2808 c.2719G>A c.(2719-2721)Ggg>Agg p.G907R XIRP2_ENST00000409273.1_Missense_Mutation_p.G685R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G907R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 732 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAGAAAAAGGGGATGTTAG 0.353000 6 38 0 0 0.001984 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812881 45812881 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:45812881C>T ENST00000358525.4 - 6 878 c.763G>A c.(763-765)Ggc>Agc p.G255S SLC6A20_ENST00000456124.2_Missense_Mutation_p.G255S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G218S NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 255 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CTGCCGAAGCCCAGGCCAAGT 0.572000 28 48 0 0 0.004656 0 0 DEFB114 245928 broad.mit.edu 37 6 49928114 49928114 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr6:49928114C>T ENST00000322066.3 - 2 100 c.101G>A c.(100-102)gGt>gAt p.G34D NM_001037499.1 NP_001032588.1 Q30KQ6 DB114_HUMAN defensin, beta 114 34 defense response to bacterium extracellular region kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TTTACAACGACCGTAACGTTT 0.353000 8 22 0 0 0.004482 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058642 67058642 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:67058642G>A ENST00000295568.4 + 4 1692 c.1561G>A c.(1561-1563)Gaa>Aaa p.E521K KBTBD8_ENST00000417314.2_Missense_Mutation_p.E547K|KBTBD8_ENST00000460576.1_Missense_Mutation_p.E105K NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 547 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GACTGTTGAAGAACACGTCTT 0.413000 16 84 0 0 0.004990 0 0 XPOT 11260 broad.mit.edu 37 12 64813917 64813917 + Nonsense_Mutation SNP C C A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:64813917C>A ENST00000332707.5 + 7 1086 c.557C>A c.(556-558)tCa>tAa p.S186* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 186 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CTGGTGGAATCATGGTACCAA 0.383000 41 33 2.87052e-16 3.14322e-16 0.005524 1 0 ZNF160 90338 broad.mit.edu 37 19 53572226 53572226 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:53572226G>A ENST00000601421.1 - 3 2329 c.1453C>T c.(1453-1455)Cgt>Tgt p.R485C ZNF160_ENST00000429604.1_Missense_Mutation_p.R521C|ZNF160_ENST00000599056.1_Missense_Mutation_p.R521C|ZNF160_ENST00000418871.1_Missense_Mutation_p.R521C Q9HCG1 ZN160_HUMAN zinc finger protein 160 521 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R521C(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGACTTGAACGAACACTGAAG 0.398000 12 58 0 0 0.001368 0 0 OR4A15 81328 broad.mit.edu 37 11 55135990 55135990 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:55135990C>T ENST00000314706.3 + 1 631 c.631C>T c.(631-633)Ccc>Tcc p.P211S NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TGATTTGTATCCCTTATTGAA 0.418000 34 75 0 0 0.002836 0 0 CNTN4 152330 broad.mit.edu 37 3 2944657 2944657 + Missense_Mutation SNP T T G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:2944657T>G ENST00000397461.1 + 11 1559 c.1175T>G c.(1174-1176)gTt>gGt p.V392G CNTN4_ENST00000418658.1_Missense_Mutation_p.V392G|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Missense_Mutation_p.V64G|CNTN4_ENST00000448906.2_Missense_Mutation_p.V64G|CNTN4_ENST00000358480.3_Missense_Mutation_p.V173G|CNTN4_ENST00000427331.1_Missense_Mutation_p.V392G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 392 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAACATGGAGTTATCTTTTCC 0.353000 3 31 0 0 0.004672 0 0 ADAM28 10863 broad.mit.edu 37 8 24207459 24207459 + Missense_Mutation SNP C C A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:24207459C>A ENST00000397649.3 + 19 2220 c.1318C>A c.(1318-1320)Cag>Aag p.Q440K ADAM28_ENST00000265769.4_Silent_p.S691S|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 527 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ACCAGAGCTCCAGAGAAAAGC 0.443000 28 135 2.14196e-07 2.29945e-07 0.007291 1 0 AAAS 8086 broad.mit.edu 37 12 53702545 53702545 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53702545G>A ENST00000209873.4 - 11 1216 c.1051C>T c.(1051-1053)Cca>Tca p.P351S AAAS_ENST00000394384.3_Missense_Mutation_p.P318S|AAAS_ENST00000550286.1_Missense_Mutation_p.P227S NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 351 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 TAAATCAGTGGCTCTCCCAAT 0.517000 64 156 0 0 0.003610 0 0 INHBB 3625 broad.mit.edu 37 2 121107115 121107115 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:121107115G>A ENST00000295228.3 + 2 935 c.889G>A c.(889-891)Gat>Aat p.D297N NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 297 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) CCTGGAGTGCGATGGCCGGAC 0.622000 15 93 0 0 0.003163 0 0 CD63 967 broad.mit.edu 37 12 56120577 56120577 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120577C>T ENST00000549117.1 - 5 769 c.333G>A c.(331-333)gtG>gtA p.V111V CD63_ENST00000548898.1_Silent_p.V18V|CD63_ENST00000420846.3_Silent_p.V111V|CD63_ENST00000548160.1_Silent_p.V18V|CD63_ENST00000552692.1_Silent_p.V111V|CD63_ENST00000552754.1_Silent_p.V88V|CD63_ENST00000546939.1_Silent_p.V29V|CD63_ENST00000257857.4_Silent_p.V111V|CD63_ENST00000550776.1_Silent_p.V29V|CD63_ENST00000552067.1_Silent_p.V18V NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 111 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 ACTCTGACATCACCTGAGAGT 0.517000 126 105 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104089541 104089541 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:104089541G>A ENST00000388887.2 + 33 3705 c.3501G>A c.(3499-3501)gaG>gaA p.E1167E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1167 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATGCAATTGAGGCTGCCGATG 0.463000 15 38 0 0 0.004007 0 0 TAC1 6863 broad.mit.edu 37 7 97363116 97363116 + Missense_Mutation SNP G G C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:97363116G>C ENST00000319273.5 + 3 502 c.205G>C c.(205-207)Ggc>Cgc p.G69R TAC1_ENST00000346867.4_Missense_Mutation_p.G69R|TAC1_ENST00000350485.4_Missense_Mutation_p.G69R NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 69 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TGGATTAATGGGCAAACGGGA 0.592000 13 86 0 0 0.003163 0 0 IQCF1 132141 broad.mit.edu 37 3 51937003 51937003 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:51937003C>T ENST00000310914.5 - 2 168 c.106G>A c.(106-108)Gag>Aag p.E36K NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 36 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCTCCTACCTCTGCCTTTGAC 0.493000 151 278 0 0 0.003610 0 0 CD63 967 broad.mit.edu 37 12 56121051 56121051 + Missense_Mutation SNP C C T rs144910349 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56121051C>T ENST00000549117.1 - 3 575 c.139G>A c.(139-141)Gct>Act p.A47T CD63_ENST00000420846.3_Missense_Mutation_p.A47T|CD63_ENST00000552692.1_Missense_Mutation_p.A47T|CD63_ENST00000552754.1_Missense_Mutation_p.A24T|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.A47T|CD63_ENST00000550776.1_5'UTR NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 47 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 CCAGGGGTAGCCCCCTGGATT 0.577000 95 76 0 0 0.003610 0 0 SCN3A 6328 broad.mit.edu 37 2 165954028 165954028 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:165954028C>T ENST00000360093.3 - 23 4464 c.3973G>A c.(3973-3975)Gtg>Atg p.V1325M SCN3A_ENST00000283254.7_Missense_Mutation_p.V1325M|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1276M NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1325 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGAGCATTCACAACCACCTAG 0.393000 5 41 0 0 0.000602 0 0 TAC1 6863 broad.mit.edu 37 7 97365643 97365643 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:97365643G>A ENST00000319273.5 + 6 619 c.322G>A c.(322-324)Ggc>Agc p.G108S TAC1_ENST00000346867.4_Missense_Mutation_p.G93S|TAC1_ENST00000350485.4_Intron NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 108 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TGGACTAATGGGCAAAAGAGC 0.269000 40 223 0 0 0.011902 0 0 DSG4 147409 broad.mit.edu 37 18 28992864 28992864 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr18:28992864G>A ENST00000359747.4 + 15 2515 c.2486G>A c.(2485-2487)gGa>gAa p.G829E RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G810E NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 810 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GACCACGAGGGAGTCGGGTCT 0.413000 34 51 0 0 0.003755 0 0 PHACTR2 9749 broad.mit.edu 37 6 144095218 144095218 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr6:144095218C>T ENST00000427704.2 + 8 1552 c.1422C>T c.(1420-1422)cgC>cgT p.R474R PHACTR2_ENST00000367582.3_Silent_p.R405R|PHACTR2_ENST00000305766.6_Silent_p.R394R|PHACTR2_ENST00000440869.2_Silent_p.R485R|PHACTR2_ENST00000367584.4_Silent_p.R462R NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 474 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GTAAAATACGCCGGAGGGATA 0.458000 8 18 0 0 0.003080 0 0 PHLDB2 90102 broad.mit.edu 37 3 111564751 111564751 + Missense_Mutation SNP G G C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:111564751G>C ENST00000393923.3 + 2 291 c.36G>C c.(34-36)aaG>aaC p.K12N PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR NM_001134437.1 NP_001127909.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 0 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGGTGCCCAAGGAAGATGGAG 0.438000 14 67 0 0 0.002450 0 0 FLG2 388698 broad.mit.edu 37 1 152325251 152325251 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:152325251C>T ENST00000388718.5 - 3 5083 c.5011G>A c.(5011-5013)Gga>Aga p.G1671R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1671 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTGTGTCCTGTATGTGTG 0.502000 54 251 0 0 0.003610 0 0 KCNH2 3757 broad.mit.edu 37 7 150674991 150674991 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:150674991C>T ENST00000262186.5 - 1 412 c.11G>A c.(10-12)cGg>cAg p.R4Q KCNH2_ENST00000430723.3_Missense_Mutation_p.R4Q NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 4 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTGGCCCCTCCGCACCGGCAT 0.756000 6 93 0 0 0.003080 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783890 33783890 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:33783890C>T ENST00000403687.3 + 17 2597 c.1857C>T c.(1855-1857)gtC>gtT p.V619V RASGRP3_ENST00000407811.1_Silent_p.V618V|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.V619V NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 619 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) CTGAACCTGTCTGGTCAGAGG 0.547000 16 83 0 0 0.003163 0 0 GALNT9 50614 broad.mit.edu 37 12 132682405 132682405 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:132682405G>A ENST00000328957.8 - 10 1596 c.1597C>T c.(1597-1599)Cgc>Tgc p.R533C GALNT9_ENST00000535228.1_Missense_Mutation_p.R284C|GALNT9_ENST00000541995.1_Missense_Mutation_p.R167C|GALNT9_ENST00000397325.2_Missense_Mutation_p.R167C NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 533 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GTGGGCATGCGGCCCGTGCCG 0.657000 7 9 0 0 0.001984 0 0 KNG1 3827 broad.mit.edu 37 3 186459368 186459368 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:186459368G>A ENST00000265023.4 + 10 1395 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K KNG1_ENST00000287611.2_Missense_Mutation_p.E395K|KNG1_ENST00000447445.1_Missense_Mutation_p.E359K|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 395 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) ACGAATAGGGGAAATAAAAGA 0.408000 11 46 0 0 0.008291 0 0 IGHG4 3503 broad.mit.edu 37 14 106090957 106090957 + RNA SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr14:106090957G>A ENST00000390543.2 - 0 839 AGGAGCCGTCGGAGTCCAGCA 0.602000 63 386 0 0 0.003610 0 0 CLDN4 1364 broad.mit.edu 37 7 73246112 73246112 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:73246112C>T ENST00000435050.1 + 2 3261 c.581C>T c.(580-582)tCc>tTc p.S194F CLDN4_ENST00000340958.2_Missense_Mutation_p.S194F|CLDN4_ENST00000431918.1_Missense_Mutation_p.S194F O14493 CLD4_HUMAN claudin 4 194 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) AAGCCTTACTCCGCCAAGTAT 0.627000 17 60 0 0 0.006122 0 0 SLC44A5 204962 broad.mit.edu 37 1 75693533 75693533 + Missense_Mutation SNP T T C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:75693533T>C ENST00000370855.5 - 13 976 c.863A>G c.(862-864)cAc>cGc p.H288R SLC44A5_ENST00000370859.3_Missense_Mutation_p.H288R|SLC44A5_ENST00000535611.1_Missense_Mutation_p.H158R NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 288 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CTGGTAACAGTGCCATATTCC 0.338000 9 35 0 0 0.006214 0 0 PTPRT 11122 broad.mit.edu 37 20 41306658 41306658 + Nonsense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr20:41306658C>T ENST00000373198.3 - 7 1236 c.1001G>A c.(1000-1002)tGg>tAg p.W334* PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W334* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 334 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGTCTCTGCCCACGTGCCTGT 0.557000 42 100 0 0 0.008740 0 0 CD63 967 broad.mit.edu 37 12 56120544 56120544 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120544C>T ENST00000549117.1 - 5 802 c.366G>A c.(364-366)caG>caA p.Q122Q CD63_ENST00000548898.1_Silent_p.Q29Q|CD63_ENST00000420846.3_Silent_p.Q122Q|CD63_ENST00000548160.1_Silent_p.Q29Q|CD63_ENST00000552692.1_Silent_p.Q122Q|CD63_ENST00000552754.1_Silent_p.Q99Q|CD63_ENST00000546939.1_Silent_p.Q40Q|CD63_ENST00000257857.4_Silent_p.Q122Q|CD63_ENST00000550776.1_Silent_p.Q40Q|CD63_ENST00000552067.1_Silent_p.Q29Q NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 122 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 AATTCTCCATCTGCTGCCGGA 0.537000 91 95 0 0 0.003610 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217172 150217172 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:150217172G>A ENST00000313543.4 + 2 267 c.110G>A c.(109-111)aGa>aAa p.R37K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 37 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTGATTCTAGAATTGCTGCC 0.502000 87 31 0 0 0.003610 0 0 OR11L1 391189 broad.mit.edu 37 1 248004723 248004723 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:248004723G>A ENST00000355784.2 - 1 531 c.476C>T c.(475-477)cCt>cTt p.P159L NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATCAGGGAAGGCAGAAAGCC 0.567000 21 94 0 0 0.010504 0 0 CD63 967 broad.mit.edu 37 12 56120529 56120529 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120529C>T ENST00000549117.1 - 5 817 c.381G>A c.(379-381)ccG>ccA p.P127P CD63_ENST00000548898.1_Silent_p.P34P|CD63_ENST00000420846.3_Silent_p.P127P|CD63_ENST00000548160.1_Silent_p.P34P|CD63_ENST00000552692.1_Silent_p.P127P|CD63_ENST00000552754.1_Silent_p.P104P|CD63_ENST00000546939.1_Silent_p.P45P|CD63_ENST00000257857.4_Silent_p.P127P|CD63_ENST00000550776.1_Silent_p.P45P|CD63_ENST00000552067.1_Silent_p.P34P NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 127 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 GGTTGTTTTTCGGGTAATTCT 0.507000 83 89 0 0 0.003610 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473063 22473063 + RNA SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr15:22473063C>T ENST00000557788.2 - 0 207 TGATAGATTTCCCCAATCCAC 0.567000 48 134 0 0 0.003610 0 0 AMHR2 269 broad.mit.edu 37 12 53817752 53817752 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53817752C>T ENST00000257863.4 + 1 114 c.34C>T c.(34-36)Ccc>Tcc p.P12S AMHR2_ENST00000550311.1_Missense_Mutation_p.P12S|AMHR2_ENST00000379791.3_Missense_Mutation_p.P12S NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 12 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) GGCATTACTTCCCACAGCTGT 0.562000 49 45 0 0 0.003610 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47641991 47641991 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr20:47641991G>A ENST00000371917.4 + 36 4897 c.4897G>A c.(4897-4899)Gag>Aag p.E1633K NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1633 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTCCAATTACGAGCAGCGGAC 0.473000 10 50 0 0 0.001855 0 0 SLC6A6 6533 broad.mit.edu 37 3 14513784 14513784 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:14513784C>T ENST00000454876.2 + 10 1497 c.1168C>T c.(1168-1170)Ctt>Ttt p.L390F SLC6A6_ENST00000360861.3_Missense_Mutation_p.L390F P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 390 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 TTGGTCCATTCTTTTTTTTAT 0.527000 20 47 0 0 0.003330 0 0 XPOT 11260 broad.mit.edu 37 12 64815126 64815126 + Nonsense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:64815126C>T ENST00000332707.5 + 9 1484 c.955C>T c.(955-957)Caa>Taa p.Q319* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 319 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TAAGAATGCTCAAGAGGCACT 0.343000 119 63 0 0 0.003610 0 0 AAAS 8086 broad.mit.edu 37 12 53702566 53702566 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53702566G>A ENST00000209873.4 - 11 1195 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L AAAS_ENST00000394384.3_Silent_p.L311L|AAAS_ENST00000550286.1_Silent_p.L220L NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 344 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 ACAGTGAACAGCAGTCGGCTG 0.522000 33 146 0 0 0.003610 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 30 0 0 0.004672 0 0 CACNA1E 777 broad.mit.edu 37 1 181741229 181741229 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:181741229G>A ENST00000526775.1 + 36 5109 c.4944G>A c.(4942-4944)gaG>gaA p.E1648E CACNA1E_ENST00000367567.4_Silent_p.E1274E|CACNA1E_ENST00000367570.1_Silent_p.E1667E|CACNA1E_ENST00000357570.5_Silent_p.E1618E|CACNA1E_ENST00000360108.3_Silent_p.E1648E|CACNA1E_ENST00000358338.5_Silent_p.E1599E|CACNA1E_ENST00000367573.2_Silent_p.E1667E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1667 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTGGCAGGAGATTATGCTGT 0.567000 20 72 0 0 0.010504 0 0 MYH15 22989 broad.mit.edu 37 3 108183645 108183645 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:108183645G>A ENST00000273353.3 - 16 1687 c.1631C>T c.(1630-1632)tCc>tTc p.S544F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 544 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCAAGGATGGAAAGGATGCC 0.428000 11 64 0 0 0.002450 0 0 STT3B 201595 broad.mit.edu 37 3 31661322 31661322 + Splice_Site SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:31661322G>A ENST00000295770.2 + 9 1536 c.1327_splice c.e9+1 p.V443_splice STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 443 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 AAGAGTATTTGGTAAGAGAGG 0.299000 3 46 0 0 0.004672 0 0 XPOT 11260 broad.mit.edu 37 12 64815234 64815234 + Missense_Mutation SNP C C G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:64815234C>G ENST00000332707.5 + 9 1592 c.1063C>G c.(1063-1065)Ctt>Gtt p.L355V NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 355 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TTACGATTATCTTCATATTTT 0.289000 75 43 0 0 0.003610 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 4 21 0 0 0.009096 0 0 VAT1 10493 broad.mit.edu 37 17 41168515 41168515 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr17:41168515G>A ENST00000355653.3 - 5 1002 c.907C>T c.(907-909)Cgg>Tgg p.R303W VAT1_ENST00000587173.1_Missense_Mutation_p.R235W|VAT1_ENST00000420567.3_Missense_Mutation_p.R169W NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 303 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CACCATGTCCGGGCCAGGGCC 0.617000 8 19 0 0 0.003080 0 0 ANGPT1 284 broad.mit.edu 37 8 108264220 108264220 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:108264220G>A ENST00000520734.1 - 8 1045 c.760C>T c.(760-762)Ccc>Tcc p.P254S ANGPT1_ENST00000520052.1_Missense_Mutation_p.P253S|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 454 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGATTGGAGGGGCCACAAGCA 0.388000 18 85 0 0 0.012319 0 0 PROS1 5627 broad.mit.edu 37 3 93615438 93615438 + Missense_Mutation SNP C C T rs5003033 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:93615438C>T ENST00000394236.3 - 9 1263 c.947G>A c.(946-948)cGt>cAt p.R316H PROS1_ENST00000407433.1_Missense_Mutation_p.R185H NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 316 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCTGGCAAACGAAATTTTAA 0.403000 11 69 0 0 0.001368 0 0 PTH2R 5746 broad.mit.edu 37 2 209302496 209302496 + Nonsense_Mutation SNP C C T rs144936061 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:209302496C>T ENST00000272847.2 + 4 514 c.301C>T c.(301-303)Cga>Tga p.R101* PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 101 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGTTGCTTTCCGACACTGTAA 0.383000 4 41 0 0 0.000602 0 0 TMEM108 66000 broad.mit.edu 37 3 133099274 133099274 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:133099274C>T ENST00000515826.1 + 3 842 c.719C>T c.(718-720)cCa>cTa p.P240L TMEM108_ENST00000393130.3_Missense_Mutation_p.P240L|TMEM108_ENST00000321871.6_Missense_Mutation_p.P240L|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 240 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CCCAGGACCCCACTCTGGGGC 0.627000 22 25 0 0 0.010504 0 0 PIGG 54872 broad.mit.edu 37 4 517460 517460 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:517460C>T ENST00000453061.2 + 9 1933 c.1827C>T c.(1825-1827)ctC>ctT p.L609L PIGG_ENST00000383028.4_Silent_p.L476L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.L520L|PIGG_ENST00000310340.5_Silent_p.L601L NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 609 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CGTGTGGCCTCTGTGTGGAAC 0.582000 20 81 0 0 0.007413 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968079 102968079 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:102968079G>A ENST00000233954.1 + 11 1640 c.1369G>A c.(1369-1371)Gag>Aag p.E457K NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 457 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TCACAATAAGGAGTTTGCCTA 0.498000 6 58 0 0 0.001168 0 0 NVL 4931 broad.mit.edu 37 1 224418997 224418997 + Splice_Site SNP A A C rs148643272 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:224418997A>C ENST00000281701.6 - 22 2716 c.2455_splice c.e22-1 p.G819_splice NVL_ENST00000482491.1_Splice_Site_p.G543_splice|NVL_ENST00000391875.2_Splice_Site_p.G713_splice|NVL_ENST00000340871.4_Splice_Site_p.G630_splice|NVL_ENST00000469075.1_Splice_Site_p.G728_splice NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 819 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) CCTTGAGTTCACCTATGGAGT 0.343000 8 39 0 0 0.004482 0 0 TBX18 9096 broad.mit.edu 37 6 85448233 85448233 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr6:85448233G>A ENST00000369663.5 - 7 1418 c.1081C>T c.(1081-1083)Cct>Tct p.P361S TBX18_ENST00000606784.1_Missense_Mutation_p.P203S NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 361 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGAATTCCAGGGATATCTTCA 0.453000 24 91 0 0 0.003954 0 0 AAAS 8086 broad.mit.edu 37 12 53703003 53703003 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53703003G>A ENST00000209873.4 - 9 1038 c.873C>T c.(871-873)acC>acT p.T291T AAAS_ENST00000394384.3_Silent_p.T258T|AAAS_ENST00000550286.1_Silent_p.T167T NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 291 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 AGAGCAGGTTGGTCACCCCAC 0.577000 147 83 0 0 0.003610 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778121 56778121 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:56778121C>T ENST00000423391.1 - 1 515 c.414G>A c.(412-414)caG>caA p.Q138Q CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 138 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) ACAGCACAGCCTGGATGGCGA 0.552000 35 25 0 0 0.012213 0 0 KDR 3791 broad.mit.edu 37 4 55976877 55976877 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:55976877C>T ENST00000263923.4 - 8 1330 c.1035G>A c.(1033-1035)ggG>ggA p.G345G NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 345 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGACACGCTCCCCCACCGTGG 0.418000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 82 0 0 0.002299 0 0 CFH 3075 broad.mit.edu 37 1 196716257 196716257 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:196716257C>T ENST00000367429.4 + 22 3750 c.3510C>T c.(3508-3510)tcC>tcT p.S1170S NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1170 Sushi 20. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GTGTAATATCCCGAGAAATTA 0.323000 7 53 0 0 0.006214 0 0 DNAH7 56171 broad.mit.edu 37 2 196749359 196749359 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:196749359C>T ENST00000312428.6 - 35 5813 c.5713G>A c.(5713-5715)Gtc>Atc p.V1905I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1905 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGAAATGGGACAGTTAGTGCC 0.408000 6 56 0 0 0.001168 0 0 ZNF79 7633 broad.mit.edu 37 9 130187080 130187080 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr9:130187080G>A ENST00000342483.5 + 1 420 c.14G>A c.(13-15)gGa>gAa p.G5E ZNF79_ENST00000543471.1_5'UTR NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CTGGAGGAAGGAGGTGAGGAG 0.592000 18 12 0 0 0.004990 0 0 CD63 967 broad.mit.edu 37 12 56120979 56120979 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120979C>T ENST00000549117.1 - 3 647 c.211G>A c.(211-213)Ggc>Agc p.G71S CD63_ENST00000420846.3_Missense_Mutation_p.G71S|CD63_ENST00000552692.1_Missense_Mutation_p.G71S|CD63_ENST00000552754.1_Missense_Mutation_p.G48S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.G71S|CD63_ENST00000550776.1_5'UTR NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 71 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 CCGCAGCAGCCCACAAAAGCC 0.582000 93 84 0 0 0.003610 0 0 CR2 1380 broad.mit.edu 37 1 207647635 207647635 + Nonsense_Mutation SNP G G T rs149039701 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:207647635G>T ENST00000367057.3 + 13 2479 c.2290G>T c.(2290-2292)Gga>Tga p.G764* CR2_ENST00000367058.3_Nonsense_Mutation_p.G705*|CR2_ENST00000367059.3_Nonsense_Mutation_p.G705*|CR2_ENST00000458541.2_Nonsense_Mutation_p.G678* NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 834 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.G764R(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGCTGAAAATGGAATTTGGTT 0.378000 23 95 5.35356e-11 5.8041e-11 0.002780 1 0 TMEM55A 55529 broad.mit.edu 37 8 92052894 92052894 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:92052894G>A ENST00000285419.3 - 1 398 c.84C>T c.(82-84)taC>taT p.Y28Y NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 28 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) TTTCTTGCAAGTACGGTGGGG 0.582000 13 61 0 0 0.003163 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68282659 68282659 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr14:68282659C>T ENST00000347230.4 - 2 160 c.22G>A c.(22-24)Gag>Aag p.E8K ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E8K NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 8 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCAGCTTCCTCTTTTCCAAAT 0.478000 5 22 0 0 0.000602 0 0 MFRP 83552 broad.mit.edu 37 11 119216587 119216587 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:119216587C>T ENST00000555262.1 - 4 482 c.323G>A c.(322-324)gGa>gAa p.G108E C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Missense_Mutation_p.G108E|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.G108E|MFRP_ENST00000449574.2_Missense_Mutation_p.G108E NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) ggtAAGGCCTCCGGCAGGCAG 0.672000 36 62 0 0 0.005524 0 0 IFT122 55764 broad.mit.edu 37 3 129195589 129195589 + Silent SNP C C T rs71333615 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:129195589C>T ENST00000296266.3 + 12 1437 c.1245C>T c.(1243-1245)gcC>gcT p.A415A IFT122_ENST00000507564.1_Silent_p.A356A|IFT122_ENST00000504021.1_Silent_p.A258A|IFT122_ENST00000440957.2_Silent_p.A155A|IFT122_ENST00000431818.2_Silent_p.A214A|IFT122_ENST00000349441.2_Silent_p.A253A|IFT122_ENST00000348417.2_Silent_p.A364A|IFT122_ENST00000347300.2_Silent_p.A305A NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 364 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ACCGCTATGCCTACAGGGATA 0.547000 37 54 0 0 0.004878 0 0 CD63 967 broad.mit.edu 37 12 56120975 56120975 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120975C>T ENST00000549117.1 - 3 651 c.215G>A c.(214-216)tGc>tAc p.C72Y CD63_ENST00000420846.3_Missense_Mutation_p.C72Y|CD63_ENST00000552692.1_Missense_Mutation_p.C72Y|CD63_ENST00000552754.1_Missense_Mutation_p.C49Y|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.C72Y|CD63_ENST00000550776.1_5'UTR NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 72 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 GGCCCCGCAGCAGCCCACAAA 0.592000 95 84 0 0 0.003610 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37349786 37349786 + Silent SNP T T C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:37349786T>C ENST00000233057.4 - 12 1252 c.930A>G c.(928-930)aaA>aaG p.K310K EIF2AK2_ENST00000405334.1_Silent_p.K269K|EIF2AK2_ENST00000395127.2_Silent_p.K310K NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 310 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TTGCCAATGCTTTTACTTCAC 0.413000 3 60 0 0 0.004672 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114873 73114873 + Nonstop_Mutation SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:73114873A>T ENST00000356692.5 + 9 1507 c.1254A>T c.(1252-1254)taA>taT p.*418Y PPP4R2_ENST00000394284.3_Nonstop_Mutation_p.*361Y|PPP4R2_ENST00000295862.9_Nonstop_Mutation_p.*362Y Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 0 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) AACAAGACTAACTATTTAGAA 0.338000 5 8 0 0 0.000602 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114872 73114872 + Nonstop_Mutation SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:73114872A>T ENST00000356692.5 + 9 1506 c.1253A>T c.(1252-1254)tAa>tTa p.*418L PPP4R2_ENST00000394284.3_Nonstop_Mutation_p.*361L|PPP4R2_ENST00000295862.9_Nonstop_Mutation_p.*362L Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 0 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GAACAAGACTAACTATTTAGA 0.338000 5 10 0 0 0.000602 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45258305 45258305 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr22:45258305G>A ENST00000517296.3 + 17 1762 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E500K|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E378K|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E588K|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E509K|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.E409K Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) CGAGTACTATGAAAAGATCTT 0.602000 5 45 0 0 0.000602 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865783 140865783 + Missense_Mutation SNP C C G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:140865783C>G ENST00000306593.1 + 1 1043 c.1043C>G c.(1042-1044)cCt>cGt p.P348R PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAATGCCCCTTACATCACA 0.542000 7 28 0 0 0.001984 0 0 AAAS 8086 broad.mit.edu 37 12 53702559 53702559 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53702559G>A ENST00000209873.4 - 11 1202 c.1037C>T c.(1036-1038)aCt>aTt p.T346I AAAS_ENST00000394384.3_Missense_Mutation_p.T313I|AAAS_ENST00000550286.1_Missense_Mutation_p.T222I NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 346 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 TCCCAATACAGTGAACAGCAG 0.527000 36 152 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9070546 9070546 + Missense_Mutation SNP G G T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:9070546G>T ENST00000397910.4 - 3 17103 c.16900C>A c.(16900-16902)Ctg>Atg p.L5634M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5636 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGACATCAGGGAAAACCCA 0.522000 6 34 3.59834e-05 3.80694e-05 0.001168 1 0 SNX9 51429 broad.mit.edu 37 6 158353276 158353276 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr6:158353276C>T ENST00000392185.3 + 13 1509 c.1338C>T c.(1336-1338)gcC>gcT p.A446A NM_016224.3 NP_057308.1 Q9Y5X1 SNX9_HUMAN sorting nexin 9 446 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) AGAGTTTGGCCACAGTGTTCA 0.448000 8 24 0 0 0.006214 0 0 CNOT4 4850 broad.mit.edu 37 7 135080388 135080388 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:135080388G>A ENST00000428680.2 - 9 1397 c.1118C>T c.(1117-1119)tCa>tTa p.S373L CNOT4_ENST00000541284.1_Missense_Mutation_p.S376L|CNOT4_ENST00000361528.4_Missense_Mutation_p.S373L|CNOT4_ENST00000414802.1_Missense_Mutation_p.S376L|CNOT4_ENST00000451834.1_Missense_Mutation_p.S373L|CNOT4_ENST00000315544.5_Missense_Mutation_p.S376L|CNOT4_ENST00000423368.2_Missense_Mutation_p.S376L|CNOT4_ENST00000356162.4_Missense_Mutation_p.S376L NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 376 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TTATATACCTGATGTGAAGAG 0.428000 23 133 0 0 0.004656 0 0 PCDH15 65217 broad.mit.edu 37 10 55568842 55568842 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr10:55568842C>T ENST00000395445.1 - 36 5362 c.4968G>A c.(4966-4968)agG>agA p.R1656R PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.R590R|PCDH15_ENST00000395446.1_Silent_p.R852R|PCDH15_ENST00000395442.1_Silent_p.R521R|PCDH15_ENST00000414778.1_Intron NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAATGTTTTTCCTTGCTTTTT 0.468000 HNSCC(58;0.16) 6 21 0 0 0.001168 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159913 72159913 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr16:72159913C>T ENST00000537465.1 - 15 2380 c.2222G>A c.(2221-2223)cGg>cAg p.R741Q PMFBP1_ENST00000237353.10_Missense_Mutation_p.R736Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R591Q Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 741 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GGCTGACTTCCGGGATAATGC 0.542000 41 161 0 0 0.010771 0 0 FLG 2312 broad.mit.edu 37 1 152280838 152280838 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:152280838C>T ENST00000368799.1 - 3 6559 c.6524G>A c.(6523-6525)gGa>gAa p.G2175E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2175 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCAGACCTTCCCTGGGATGT 0.562000 Ichthyosis 147 231 0 0 0.003610 0 0 GNB1L 54584 broad.mit.edu 37 22 19808195 19808195 + Silent SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr22:19808195A>T ENST00000329517.6 - 4 416 c.180T>A c.(178-180)gtT>gtA p.V60V GNB1L_ENST00000403325.1_Silent_p.V60V|GNB1L_ENST00000405009.1_Silent_p.V60V|GNB1L_ENST00000460402.1_Intron NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 60 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CCAGGGTGGTAACCGCTCTCC 0.657000 11 45 0 0 0.001368 0 0 CBX7 23492 broad.mit.edu 37 22 39530023 39530023 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr22:39530023G>A ENST00000216133.5 - 6 834 c.629C>T c.(628-630)cCc>cTc p.P210L CBX7_ENST00000401405.3_Missense_Mutation_p.P117L|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 210 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) AGGTGTCCAGGGAGGGGGCCC 0.657000 22 104 0 0 0.002780 0 0 LIFR 3977 broad.mit.edu 37 5 38506127 38506127 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:38506127C>T ENST00000263409.4 - 9 1333 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K LIFR_ENST00000453190.2_Missense_Mutation_p.E391K|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 391 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity p.E391K(2) NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGATAGCTTTCGTTTGTAGGT 0.289000 T PLAG1 salivary adenoma 14 52 0 0 0.002450 0 0 CRYAA 1409 broad.mit.edu 37 21 44592347 44592347 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:44592347C>T ENST00000291554.2 + 3 571 c.479C>T c.(478-480)cCc>cTc p.P160L CRYAA_ENST00000398133.1_Missense_Mutation_p.P140L|CRYAA_ENST00000398132.1_Missense_Mutation_p.P123L|CRYAA_ENST00000482775.1_3'UTR NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A 160 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CGAGCCATCCCCGTGTCGCGG 0.677000 19 27 0 0 0.007413 0 0 SCN11A 11280 broad.mit.edu 37 3 38927621 38927621 + Nonsense_Mutation SNP G G A rs145290679 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:38927621G>A ENST00000450244.1 - 16 3142 c.2944C>T c.(2944-2946)Cga>Tga p.R982* SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.R982*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.R982* Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 982 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATTACCTTTCGGGGATCCTGT 0.448000 19 41 0 0 0.007413 0 0 HSPG2 3339 broad.mit.edu 37 1 22211071 22211071 + Missense_Mutation SNP C C T rs142248704 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:22211071C>T ENST00000374695.3 - 13 1683 c.1604G>A c.(1603-1605)cGc>cAc p.R535H NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 535 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCCCGGAAGCGGCGGGTGCT 0.677000 31 75 0 0 0.010818 0 0 HERC2P3 283755 broad.mit.edu 37 15 20643999 20643999 + RNA SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr15:20643999C>T ENST00000428453.1 - 0 3460 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATCGATGCCTCCAACCACAGC 0.582000 8 54 0 0 0.004482 0 0 TLL1 7092 broad.mit.edu 37 4 166978335 166978335 + Splice_Site SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:166978335G>A ENST00000061240.2 + 14 2367 c.e14-1 TLL1_ENST00000507499.1_Splice_Site NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CATTTTCATAGAGGAAGATGA 0.458000 14 62 0 0 0.002450 0 0 DAGLA 747 broad.mit.edu 37 11 61495718 61495718 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:61495718C>T ENST00000257215.5 + 7 846 c.730C>T c.(730-732)Cgg>Tgg p.R244W NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 244 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GGTGCTGCTCCGGCAGCGGCA 0.617000 33 68 0 0 0.010818 0 0 AIRE 326 broad.mit.edu 37 21 45709622 45709622 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:45709622G>A ENST00000291582.5 + 6 862 c.735G>A c.(733-735)aaG>aaA p.K245K NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 245 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGAAGAACAAGGCCCGCAGCA 0.652000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 15 71 0 0 0.003163 0 0 COBLL1 22837 broad.mit.edu 37 2 165578763 165578763 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:165578763G>A ENST00000375458.2 - 6 1039 c.818C>T c.(817-819)tCc>tTc p.S273F COBLL1_ENST00000194871.6_Missense_Mutation_p.S339F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.S311F|COBLL1_ENST00000392717.2_Missense_Mutation_p.S311F|COBLL1_ENST00000342193.4_Missense_Mutation_p.S273F NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 311 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 AATGGTATTGGACCTTGTAAA 0.478000 11 49 0 0 0.001855 0 0 LILRB2 10288 broad.mit.edu 37 19 54783715 54783715 + Missense_Mutation SNP A A G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:54783715A>G ENST00000391748.1 - 4 413 c.286T>C c.(286-288)Tat>Cat p.Y96H LILRB2_ENST00000391746.1_Missense_Mutation_p.Y96H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Y96H|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y96H|LILRB2_ENST00000471216.1_5'UTR NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 96 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGACAGCCATATCGCCCTGTG 0.557000 26 111 0 0 0.003954 0 0 UGT1A6 54578 broad.mit.edu 37 2 234681041 234681041 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:234681041G>A ENST00000305139.6 + 5 1574 c.1435G>A c.(1435-1437)Gac>Aac p.D479N UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A8_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000305208.5_Missense_Mutation_p.D480N NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CGCAGCCCACGACCTCACCTG 0.597000 18 104 0 0 0.008871 0 0 UCKL1 54963 broad.mit.edu 37 20 62577061 62577061 + Silent SNP A A C TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr20:62577061A>C ENST00000369908.5 - 5 851 c.552T>G c.(550-552)ggT>ggG p.G184G UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Silent_p.G199G|UCKL1_ENST00000369892.3_Silent_p.G199G|UCKL1_ENST00000354216.6_Silent_p.G199G NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 199 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGACGTTTGCACCATACAGTG 0.597000 27 116 0 0 0.007291 0 0 PODXL2 50512 broad.mit.edu 37 3 127379473 127379473 + Missense_Mutation SNP C C T rs114228905 byFrequency TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:127379473C>T ENST00000342480.6 + 3 641 c.602C>T c.(601-603)cCt>cTt p.P201L NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 201 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 GAAGCCAAGCCTCAGGTCCGT 0.577000 25 74 0 0 0.005443 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120343836 120343836 + Splice_Site SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:120343836G>A ENST00000397843.2 + 31 3199 c.3033_splice c.e31+1 p.R1011_splice ARHGEF12_ENST00000532993.1_Splice_Site_p.R908_splice|ARHGEF12_ENST00000356641.3_Splice_Site_p.R992_splice NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1011 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AAGAGCTCAGGGTGAGAGATG 0.413000 T MLL AML 22 101 0 0 0.012319 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310275 178310275 + Missense_Mutation SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:178310275A>T ENST00000322434.3 + 5 1048 c.822A>T c.(820-822)gaA>gaT p.E274D NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TATGTAAAGAATGTGGGAAAG 0.353000 20 53 0 0 0.008871 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143790 55143790 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr18:55143790C>T ENST00000491143.2 + 2 1382 c.1350C>T c.(1348-1350)cgC>cgT p.R450R NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 450 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGAACAAACGCCCGTCAAAGG 0.552000 11 57 0 0 0.001368 0 0 LILRA1 11024 broad.mit.edu 37 19 55107662 55107662 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:55107662C>T ENST00000251372.3 + 7 1149 c.967C>T c.(967-969)Cgt>Tgt p.R323C LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 323 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGACAGTTCCGTGGCAGACC 0.602000 9 38 0 0 0.006214 0 0 SAG 6295 broad.mit.edu 37 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:234237135G>A ENST00000409110.1 + 8 754 c.524G>A c.(523-525)cGa>cAa p.R175Q SAG_ENST00000449594.2_Missense_Mutation_p.R41Q NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 175 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AGCTCCGTGCGATTACTGATC 0.592000 49 81 0 0 0.003610 0 0 ATP8A1 10396 broad.mit.edu 37 4 42505494 42505494 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:42505494C>T ENST00000381668.5 - 24 2355 c.2124G>A c.(2122-2124)atG>atA p.M708I ATP8A1_ENST00000264449.10_Missense_Mutation_p.M693I NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 708 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTATAACAATCATTCCCATGT 0.274000 8 24 0 0 0.003080 0 0 DOCK2 1794 broad.mit.edu 37 5 169484667 169484667 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:169484667G>A ENST00000256935.8 + 44 4544 c.4464G>A c.(4462-4464)tcG>tcA p.S1488S DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.S980S|DOCK2_ENST00000540750.1_Silent_p.S549S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1488 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCACATGTCGCAGGTGAGTC 0.577000 45 42 0 0 0.003610 0 0 AAAS 8086 broad.mit.edu 37 12 53703020 53703020 + Nonsense_Mutation SNP G G A rs145446970 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53703020G>A ENST00000209873.4 - 9 1021 c.856C>T c.(856-858)Cga>Tga p.R286* AAAS_ENST00000394384.3_Nonsense_Mutation_p.R253*|AAAS_ENST00000550286.1_Nonsense_Mutation_p.R162* NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 286 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCACCTCCTCGGAACCAGGGA 0.567000 108 63 0 0 0.003610 0 0 ANPEP 290 broad.mit.edu 37 15 90342541 90342541 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr15:90342541G>A ENST00000300060.6 - 14 2272 c.1959C>T c.(1957-1959)atC>atT p.I653I ANPEP_ENST00000558177.1_5'UTR NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 653 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGATGACAGGGATGGCCTAGA 0.607000 7 41 0 0 0.001984 0 0 LAMA1 284217 broad.mit.edu 37 18 7013995 7013995 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr18:7013995C>T ENST00000389658.3 - 23 3275 c.3182G>A c.(3181-3183)gGc>gAc p.G1061D NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1061 Laminin EGF-like 12. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGCAATGGCCGGTGACCAC 0.522000 14 14 0 0 0.002450 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144918965 144918965 + Silent SNP T T A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:144918965T>A ENST00000529945.1 - 6 2149 c.1710A>T c.(1708-1710)ctA>ctT p.L570L PDE4DIP_ENST00000369356.4_Silent_p.L407L|PDE4DIP_ENST00000369359.4_Silent_p.L544L|PDE4DIP_ENST00000479408.2_Silent_p.L194L|PDE4DIP_ENST00000313382.9_Silent_p.L473L|PDE4DIP_ENST00000313431.9_Silent_p.L570L|PDE4DIP_ENST00000530740.1_Silent_p.L544L|PDE4DIP_ENST00000369354.3_Silent_p.L407L|PDE4DIP_ENST00000369349.3_Silent_p.L407L|PDE4DIP_ENST00000369351.3_Silent_p.L407L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 407 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATTCTTCTTGTAGCTGCTGCA 0.388000 T PDGFRB MPD 75 410 0 0 0.003610 0 0 CNNM1 26507 broad.mit.edu 37 10 101117306 101117306 + Missense_Mutation SNP T T G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr10:101117306T>G ENST00000356713.4 + 2 1900 c.1611T>G c.(1609-1611)aaT>aaG p.N537K CNNM1_ENST00000446890.1_Missense_Mutation_p.N466K|CNNM1_ENST00000370534.4_Missense_Mutation_p.N172K|CNNM1_ENST00000370528.3_Missense_Mutation_p.N466K NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 537 CBS 2. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GGGTGAATAATGAGGGAGAAG 0.443000 4 25 0 0 0.009096 0 0 DNAJC12 56521 broad.mit.edu 37 10 69556939 69556939 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr10:69556939G>A ENST00000225171.2 - 5 684 c.532C>T c.(532-534)Cgt>Tgt p.R178C DNAJC12_ENST00000483798.2_Missense_Mutation_p.R208C NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 178 protein folding heat shock protein binding|unfolded protein binding p.R178C(1) breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 CAGCGGAAACGAAGGTGCCAA 0.373000 5 7 0 0 0.001168 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18131467 18131467 + Silent SNP C C A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr20:18131467C>A ENST00000278816.2 + 4 1031 c.381C>A c.(379-381)gtC>gtA p.V127V CSRP2BP_ENST00000435364.2_Silent_p.V127V|CSRP2BP_ENST00000489634.2_5'UTR|CSRP2BP_ENST00000377681.2_Silent_p.V127V Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 127 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TGTTTCAGGTCGTCATGTTGG 0.413000 49 134 1.67886e-27 1.85692e-27 0.003610 1 0 AAAS 8086 broad.mit.edu 37 12 53703480 53703480 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53703480G>A ENST00000209873.4 - 8 880 c.715C>T c.(715-717)Ctg>Ttg p.L239L AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.L206L|AAAS_ENST00000550286.1_Silent_p.L115L NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 239 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GGGTGAGACAGCACTTGGGCA 0.582000 28 37 0 0 0.012213 0 0 SAFB 6294 broad.mit.edu 37 19 5651068 5651068 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:5651068C>T ENST00000292123.5 + 9 1385 c.1278C>T c.(1276-1278)ttC>ttT p.F426F SAFB_ENST00000592224.1_Silent_p.F426F|SAFB_ENST00000433404.1_Silent_p.F256F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Silent_p.F357F|SAFB_ENST00000538656.1_Silent_p.F269F|SAFB_ENST00000588852.1_Silent_p.F426F NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 426 RRM. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AGAATCTTTTCAGCAAATATG 0.428000 8 44 0 0 0.003080 0 0 CFAP221 200373 broad.mit.edu 37 2 120383201 120383201 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:120383201C>T ENST00000602047.1 + 16 1707 c.595C>T c.(595-597)Cgt>Tgt p.R199C PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.R485C Q4G0U5 PCDP1_HUMAN 485 cilium calmodulin binding Colorectal(110;0.196) GAGTGCTGTTCGTGAAATGGA 0.403000 5 13 0 0 0.003080 0 0 OSBPL11 114885 broad.mit.edu 37 3 125279285 125279285 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:125279285C>T ENST00000296220.5 - 8 1382 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 365 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 CTACGTTGTTCTTCTACAGCT 0.413000 16 85 0 0 0.004007 0 0 USH2A 7399 broad.mit.edu 37 1 215847712 215847712 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:215847712C>T ENST00000366943.2 - 63 13927 c.13541G>A c.(13540-13542)aGc>aAc p.S4514N USH2A_ENST00000307340.3_Missense_Mutation_p.S4514N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4514 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCCCCTTGGCTGTTGCTGGC 0.512000 HNSCC(13;0.011) 25 101 0 0 0.003330 0 0 CD63 967 broad.mit.edu 37 12 56121119 56121119 + Translation_Start_Site SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56121119C>T ENST00000550776.1 - 0 208 CD63_ENST00000420846.3_Missense_Mutation_p.C24Y|CD63_ENST00000552692.1_Missense_Mutation_p.C24Y|CD63_ENST00000552754.1_Intron|CD63_ENST00000549117.1_Missense_Mutation_p.C24Y|CD63_ENST00000546939.1_De_novo_Start_OutOfFrame|CD63_ENST00000257857.4_Missense_Mutation_p.C24Y NM_001257401.1 NP_001244330.1 P08962 CD63_HUMAN CD63 molecule platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 TCCCACTGCACAGGCCTAAGA 0.577000 59 58 0 0 0.003610 0 0 OR14K1 343170 broad.mit.edu 37 1 247902398 247902398 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:247902398C>T ENST00000283225.2 + 1 482 c.482C>T c.(481-483)aCa>aTa p.T161I RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ACAGCTGGAACATTCTCTCTG 0.488000 22 120 0 0 0.012319 0 0 DYSF 8291 broad.mit.edu 37 2 71766327 71766327 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:71766327C>T ENST00000258104.3 + 16 1715 c.1438C>T c.(1438-1440)Ctg>Ttg p.L480L DYSF_ENST00000410020.3_Silent_p.L512L|DYSF_ENST00000409582.3_Silent_p.L511L|DYSF_ENST00000409366.1_Silent_p.L481L|DYSF_ENST00000394120.2_Silent_p.L481L|DYSF_ENST00000429174.2_Silent_p.L480L|DYSF_ENST00000409762.1_Silent_p.L511L|DYSF_ENST00000413539.2_Silent_p.L511L|DYSF_ENST00000409651.1_Silent_p.L512L|DYSF_ENST00000409744.1_Silent_p.L481L|DYSF_ENST00000410041.1_Silent_p.L512L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 480 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TACCACCTACCTGAGTATGTC 0.567000 16 72 0 0 0.004990 0 0 DCDC1 341019 broad.mit.edu 37 11 30938509 30938509 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:30938509C>T ENST00000597505.1 - 24 3359 c.3360G>A c.(3358-3360)caG>caA p.Q1120Q DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Silent_p.Q199Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GTGAAGTTTCCTGCCAGGCAT 0.418000 19 105 0 0 0.008871 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562427 140562427 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:140562427C>T ENST00000361016.2 + 1 1448 c.293C>T c.(292-294)cCc>cTc p.P98L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 98 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATGCGGTCCCACTGAGCCT 0.438000 25 12 0 0 0.002780 0 0 CSMD3 114788 broad.mit.edu 37 8 113933877 113933877 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:113933877C>T ENST00000297405.5 - 10 1856 c.1612G>A c.(1612-1614)Gat>Aat p.D538N CSMD3_ENST00000455883.2_Missense_Mutation_p.D434N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D498N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D538N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 538 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGCCTGTGATCACTCCAAGCA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 40 0 0 0.010504 0 0 PICK1 9463 broad.mit.edu 37 22 38461089 38461089 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr22:38461089C>T ENST00000404072.3 + 4 581 c.234C>T c.(232-234)atC>atT p.I78I PICK1_ENST00000356976.3_Silent_p.I78I|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 78 PDZ. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GCAGGTCAATCAAAGGGAAAA 0.542000 13 42 0 0 0.001368 0 0 MAST3 23031 broad.mit.edu 37 19 18245446 18245446 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:18245446C>T ENST00000262811.5 + 15 1542 c.1542C>T c.(1540-1542)atC>atT p.I514I NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 514 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TGTCCAAGATCGGCCTCATGA 0.627000 3 14 0 0 0.004672 0 0 AMDHD1 144193 broad.mit.edu 37 12 96360259 96360259 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:96360259G>A ENST00000266736.2 + 8 1272 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 389 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 GGCAAACAGGGAGATCTCATT 0.473000 136 101 0 0 0.003610 0 0 SLC22A25 387601 broad.mit.edu 37 11 62984830 62984830 + Missense_Mutation SNP C C G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:62984830C>G ENST00000403374.2 - 5 591 c.288G>C c.(286-288)caG>caC p.Q96H SLC22A25_ENST00000306494.6_Missense_Mutation_p.Q262H|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 262 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACATCACCAACTGGAGGATGC 0.443000 10 38 0 0 0.008291 0 0 MBD5 55777 broad.mit.edu 37 2 149227601 149227601 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:149227601C>T ENST00000407073.1 + 9 3086 c.2089C>T c.(2089-2091)Ccc>Tcc p.P697S MBD5_ENST00000404807.1_Missense_Mutation_p.P697S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 697 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GGGTTCATTTCCCATCAGTTC 0.458000 27 39 0 0 0.005443 0 0 CSMD1 64478 broad.mit.edu 37 8 3611459 3611459 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:3611459C>T ENST00000602557.1 - 6 1479 c.924G>A c.(922-924)caG>caA p.Q308Q CSMD1_ENST00000542608.1_Silent_p.Q308Q|CSMD1_ENST00000400186.3_Silent_p.Q308Q|CSMD1_ENST00000539096.1_Silent_p.Q308Q|CSMD1_ENST00000602723.1_Silent_p.Q308Q|CSMD1_ENST00000537824.1_Silent_p.Q308Q|CSMD1_ENST00000520002.1_Silent_p.Q308Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 308 CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCTTGGAACTGAGCGTTAA 0.403000 6 44 0 0 0.003080 0 0 KCNIP1 30820 broad.mit.edu 37 5 170139862 170139862 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:170139862C>T ENST00000411494.1 + 2 66 c.66C>T c.(64-66)atC>atT p.I22I KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000434108.1_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 22 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.I22I(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTAGACATCGCCTGGTGGT 0.413000 18 113 0 0 0.007413 0 0 GRIK5 2901 broad.mit.edu 37 19 42507520 42507520 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:42507520G>A ENST00000262895.3 - 18 2477 c.2478C>T c.(2476-2478)ttC>ttT p.F826F GRIK5_ENST00000593562.1_Silent_p.F826F|GRIK5_ENST00000301218.4_Silent_p.F826F NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 826 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TGGACCATATGAATTCCATGA 0.592000 10 60 0 0 0.006214 0 0 CD63 967 broad.mit.edu 37 12 56120713 56120713 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:56120713C>T ENST00000549117.1 - 4 727 c.291G>A c.(289-291)gaG>gaA p.E97E CD63_ENST00000548898.1_Silent_p.E4E|CD63_ENST00000420846.3_Silent_p.E97E|CD63_ENST00000548160.1_Silent_p.E4E|CD63_ENST00000552692.1_Silent_p.E97E|CD63_ENST00000552754.1_Silent_p.E74E|CD63_ENST00000546939.1_Silent_p.E15E|CD63_ENST00000257857.4_Silent_p.E97E|CD63_ENST00000550776.1_Silent_p.E15E|CD63_ENST00000552067.1_Silent_p.E4E NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 97 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 CTGCGGCCACCTCCACCAACA 0.517000 160 103 0 0 0.003610 0 0 HOXB3 3213 broad.mit.edu 37 17 46629400 46629400 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr17:46629400G>A ENST00000470495.1 - 1 1884 c.437C>T c.(436-438)tCc>tTc p.S146F HOXB3_ENST00000472863.1_Missense_Mutation_p.S73F|HOXB3_ENST00000498678.1_Missense_Mutation_p.S146F|HOXB3_ENST00000460160.1_Missense_Mutation_p.S14F|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.S146F|HOXB3_ENST00000311626.4_Missense_Mutation_p.S146F|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.S73F|HOXB3_ENST00000485909.2_Missense_Mutation_p.S14F P14651 HXB3_HUMAN homeobox B3 146 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TGTGCCGGGGGAGTTGTTTTT 0.572000 70 225 0 0 0.003610 0 0 HEPH 9843 broad.mit.edu 37 X 65423391 65423391 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chrX:65423391G>A ENST00000519389.1 + 13 2604 c.2425G>A c.(2425-2427)Gaa>Aaa p.E809K HEPH_ENST00000374727.3_Missense_Mutation_p.E758K|HEPH_ENST00000441993.2_Missense_Mutation_p.E758K|HEPH_ENST00000343002.2_Missense_Mutation_p.E755K|HEPH_ENST00000419594.1_Missense_Mutation_p.E566K|HEPH_ENST00000336279.5_Missense_Mutation_p.E488K Q9BQS7 HEPH_HUMAN hephaestin 755 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTGGGAACGGGAATGGCACAA 0.458000 15 7 0 0 0.004007 0 0 DSCAM 1826 broad.mit.edu 37 21 41711284 41711284 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:41711284C>T ENST00000400454.1 - 7 1746 c.1269G>A c.(1267-1269)ccG>ccA p.P423P NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 423 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TAAGGGAAACCGGCTCTGCTG 0.493000 14 27 0 0 0.001855 0 0 TEK 7010 broad.mit.edu 37 9 27206637 27206637 + Missense_Mutation SNP A A G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr9:27206637A>G ENST00000380036.4 + 15 2864 c.2422A>G c.(2422-2424)Aaa>Gaa p.K808E TEK_ENST00000406359.4_Missense_Mutation_p.K765E|TEK_ENST00000519097.1_Missense_Mutation_p.K660E NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 808 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CAGGAAGGTCAAAAACAACCC 0.413000 7 20 0 0 0.001984 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533394 85533394 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:85533394C>T ENST00000282111.3 + 9 1330 c.1055C>T c.(1054-1056)gCc>gTc p.A352V NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 352 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CCTCTGAATGCCTTCATGTTG 0.498000 12 50 0 0 0.010729 0 0 DDIT4L 115265 broad.mit.edu 37 4 101109106 101109106 + Nonsense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:101109106G>A ENST00000273990.2 - 3 524 c.310C>T c.(310-312)Cga>Tga p.R104* RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 104 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) ACACAACCTCGCAAGCCGCAG 0.458000 12 41 0 0 0.010729 0 0 CTNND2 1501 broad.mit.edu 37 5 11098696 11098696 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:11098696C>T ENST00000304623.8 - 15 2817 c.2628G>A c.(2626-2628)ggG>ggA p.G876G CTNND2_ENST00000503622.1_Silent_p.G539G|CTNND2_ENST00000511377.1_Silent_p.G785G|CTNND2_ENST00000458100.2_Silent_p.G443G|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 876 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCTTCCAGCTCCCTGCAGCCA 0.478000 13 58 0 0 0.002450 0 0 FN1 2335 broad.mit.edu 37 2 216239985 216239985 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:216239985C>T ENST00000354785.4 - 38 6478 c.6109G>A c.(6109-6111)Gaa>Aaa p.E2037K FN1_ENST00000345488.5_Missense_Mutation_p.E1946K|FN1_ENST00000336916.4_Missense_Mutation_p.E1946K|FN1_ENST00000323926.6_Missense_Mutation_p.E2037K|FN1_ENST00000357009.2_Missense_Mutation_p.E1946K|FN1_ENST00000446046.1_Missense_Mutation_p.E1946K|FN1_ENST00000443816.1_Missense_Mutation_p.E1856K|FN1_ENST00000356005.4_Missense_Mutation_p.E1856K|FN1_ENST00000432072.2_Missense_Mutation_p.E1947K|FN1_ENST00000421182.1_Missense_Mutation_p.E1856K|FN1_ENST00000359671.1_Missense_Mutation_p.E1946K|FN1_ENST00000357867.4_Missense_Mutation_p.E1856K|FN1_ENST00000346544.3_Missense_Mutation_p.E1946K P02751 FINC_HUMAN fibronectin 1 1946 Connecting strand 3 (CS-3) (V region). acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGACCACTTCTCTGGGAGGA 0.542000 18 111 0 0 0.010504 0 0 TRANK1 9881 broad.mit.edu 37 3 36893670 36893670 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr3:36893670C>T ENST00000301807.6 - 13 4831 c.2934G>A c.(2932-2934)agG>agA p.R978R TRANK1_ENST00000428977.2_Silent_p.R978R|TRANK1_ENST00000429976.2_Silent_p.R1528R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1528 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCTGAGTTTTCCTTTTATTCC 0.428000 9 29 0 0 0.006214 0 0 XPOT 11260 broad.mit.edu 37 12 64814263 64814263 + Missense_Mutation SNP C C A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:64814263C>A ENST00000332707.5 + 8 1334 c.805C>A c.(805-807)Caa>Aaa p.Q269K NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 269 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) ATCTTTGTGTCAAGTATTACA 0.338000 51 51 1.17673e-23 1.29499e-23 0.003610 1 0 DNAJC21 134218 broad.mit.edu 37 5 34937654 34937654 + Missense_Mutation SNP G G A rs140595082 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:34937654G>A ENST00000382021.2 + 5 889 c.662G>A c.(661-663)cGa>cAa p.R221Q DNAJC21_ENST00000303525.7_Missense_Mutation_p.R221Q|DNAJC21_ENST00000342382.4_Missense_Mutation_p.R221Q NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 221 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CAGGCGCATCGAAAACTTGTG 0.493000 21 75 0 0 0.010504 0 0 OR13G1 441933 broad.mit.edu 37 1 247836239 247836239 + Silent SNP A A G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:247836239A>G ENST00000359688.2 - 1 126 c.105T>C c.(103-105)gcT>gcC p.A35A RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGCCGAGAAAAGCCACAAGAT 0.423000 3 41 0 0 0.004672 0 0 XPOT 11260 broad.mit.edu 37 12 64814155 64814155 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:64814155C>T ENST00000332707.5 + 8 1226 c.697C>T c.(697-699)Cat>Tat p.H233Y NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 233 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GCTGCTAGGTCATATGTCAAT 0.308000 59 45 0 0 0.003610 0 0 ABCA17P 650655 broad.mit.edu 37 16 2474682 2474682 + RNA SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr16:2474682G>A ENST00000469908.1 + 0 2851 NR_003574.1 TTCAGCAGTGGCTACTCCCTG 0.647000 5 18 0 0 0.000602 0 0 ZNF440 126070 broad.mit.edu 37 19 11943616 11943616 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr19:11943616C>T ENST00000304060.5 + 4 1789 c.1625C>T c.(1624-1626)cCt>cTt p.P542L NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AAGAGAAACCCTATGAGTGTG 0.478000 10 44 0 0 0.001368 0 0 CTNND2 1501 broad.mit.edu 37 5 10973741 10973741 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:10973741C>T ENST00000304623.8 - 22 3691 c.3502G>A c.(3502-3504)Gat>Aat p.D1168N CTNND2_ENST00000503622.1_Missense_Mutation_p.D831N|CTNND2_ENST00000511377.1_Missense_Mutation_p.D1077N|CTNND2_ENST00000458100.2_Missense_Mutation_p.D735N|CTNND2_ENST00000359640.2_Missense_Mutation_p.D1110N|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1168 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AAGGACTCATCGTAATTTCTT 0.527000 15 60 0 0 0.002450 0 0 PCLO 27445 broad.mit.edu 37 7 82580214 82580214 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:82580214G>A ENST00000423517.2 - 6 10027 c.9690C>T c.(9688-9690)cgC>cgT p.R3230R PCLO_ENST00000333891.8_Silent_p.R3230R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3161 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCTCAGCAAAGCGCTGTTGCT 0.438000 14 165 0 0 0.002450 0 0 TRMT44 152992 broad.mit.edu 37 4 8469883 8469883 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:8469883C>T ENST00000389737.4 + 9 1737 c.1737C>T c.(1735-1737)ccC>ccT p.P579P TRMT44_ENST00000513449.2_Silent_p.P338P NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) GAGCAGGGCCCCAGGCTGAAG 0.607000 10 32 0 0 0.006214 0 0 AHCTF1 25909 broad.mit.edu 37 1 247065863 247065863 + Nonsense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:247065863G>A ENST00000366508.1 - 8 1322 c.1186C>T c.(1186-1188)Cga>Tga p.R396* AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R370*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R361* Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 361 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCATGAGATCGAAATTTCTCT 0.418000 25 97 0 0 0.003330 0 0 TBC1D4 9882 broad.mit.edu 37 13 75900390 75900390 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr13:75900390C>T ENST00000377636.3 - 10 2322 c.1976G>A c.(1975-1977)gGg>gAg p.G659E TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G659E|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G659E NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 659 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CTGAGCCCTCCCATCCTGCAA 0.557000 8 45 0 0 0.004482 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554899 40554899 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr8:40554899C>T ENST00000297737.6 - 4 360 c.214G>A c.(214-216)Gat>Aat p.D72N ZMAT4_ENST00000315769.7_Missense_Mutation_p.D72N NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 72 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TTGTTCTTATCCACCATGTCG 0.478000 4 35 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152281092 152281092 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:152281092G>A ENST00000368799.1 - 3 6305 c.6270C>T c.(6268-6270)ttC>ttT p.F2090F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2090 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGTAGAGGAAAGACCCTG 0.562000 Ichthyosis 37 148 0 0 0.004878 0 0 SLIT2 9353 broad.mit.edu 37 4 20599919 20599919 + Missense_Mutation SNP T T G TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:20599919T>G ENST00000504154.1 + 33 3845 c.3593T>G c.(3592-3594)cTg>cGg p.L1198R SLIT2_ENST00000503823.1_Missense_Mutation_p.L1190R|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1211R|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1194R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1198 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGAATCCTCCTGTATAAGGGT 0.483000 22 107 0 0 0.003330 0 0 HUNK 30811 broad.mit.edu 37 21 33331183 33331183 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:33331183G>A ENST00000270112.2 + 5 1135 c.775G>A c.(775-777)Ggg>Agg p.G259R NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 259 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CATGTTGACCGGGACGCTGCC 0.552000 20 131 0 0 0.002299 0 0 TTC17 55761 broad.mit.edu 37 11 43469611 43469611 + Missense_Mutation SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:43469611C>T ENST00000039989.4 + 19 2739 c.2725C>T c.(2725-2727)Cgc>Tgc p.R909C NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 909 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CCTCAAACTCCGCTGGGTAGA 0.483000 14 57 0 0 0.002450 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 64 0 0 0.004672 0 0 AAAS 8086 broad.mit.edu 37 12 53702561 53702561 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr12:53702561G>A ENST00000209873.4 - 11 1200 c.1035C>T c.(1033-1035)ttC>ttT p.F345F AAAS_ENST00000394384.3_Silent_p.F312F|AAAS_ENST00000550286.1_Silent_p.F221F NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 345 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCAATACAGTGAACAGCAGTC 0.527000 32 152 0 0 0.003610 0 0 TMEM130 222865 broad.mit.edu 37 7 98453758 98453758 + Silent SNP G G T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:98453758G>T ENST00000450876.1 - 4 1663 c.348C>A c.(346-348)atC>atA p.I116I TMEM130_ENST00000339375.4_Silent_p.I200I|TMEM130_ENST00000345589.4_Silent_p.I98I|TMEM130_ENST00000416379.2_Silent_p.I200I|TMEM130_ENST00000546258.1_Silent_p.I181I Q8N3G9 TM130_HUMAN transmembrane protein 130 200 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGTCCCGATGATGGAATAGT 0.567000 16 622 4.7546e-09 5.12935e-09 0.004007 1 0 OR2L13 284521 broad.mit.edu 37 1 248263456 248263456 + Missense_Mutation SNP G G C rs141876053 by1000genomes TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr1:248263456G>C ENST00000366478.2 + 3 1116 c.779G>C c.(778-780)cGg>cCg p.R260P OR2L13_ENST00000358120.2_Missense_Mutation_p.R260P NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ACCTATCTTCGGCCCAGGAAT 0.463000 11 70 0 0 0.010729 0 0 C2orf71 388939 broad.mit.edu 37 2 29296513 29296513 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:29296513G>A ENST00000331664.5 - 1 614 c.615C>T c.(613-615)atC>atT p.I205I NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 205 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGGCCTGATGGATGATGCACA 0.562000 16 73 0 0 0.004007 0 0 CERKL 375298 broad.mit.edu 37 2 182423332 182423332 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:182423332G>A ENST00000410087.3 - 5 881 c.781C>T c.(781-783)Cct>Tct p.P261S CERKL_ENST00000339098.5_Missense_Mutation_p.P287S|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.P243S|CERKL_ENST00000374969.2_Intron NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 287 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCTCTGACAGGAGTCAGGATT 0.488000 14 70 0 0 0.003163 0 0 OR8B4 283162 broad.mit.edu 37 11 124294669 124294669 + Silent SNP C C T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:124294669C>T ENST00000356130.3 - 1 120 c.99G>A c.(97-99)ggG>ggA p.G33G NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACACATAGATCCCTAAGAATA 0.453000 19 33 0 0 0.007413 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 96 26 0 0 0.003610 0 0 GPR98 84059 broad.mit.edu 37 5 90144467 90144467 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr5:90144467G>A ENST00000405460.2 + 79 17129 c.17033G>A c.(17032-17034)gGa>gAa p.G5678E GPR98_ENST00000425867.2_Missense_Mutation_p.G1339E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5678 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTACTGAAGGAAAAATTCAA 0.318000 3 2 0 0 0.004672 0 0 CLCN3 1182 broad.mit.edu 37 4 170610305 170610305 + Missense_Mutation SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr4:170610305A>T ENST00000513761.1 + 5 1089 c.530A>T c.(529-531)aAt>aTt p.N177I CLCN3_ENST00000360642.3_Missense_Mutation_p.N177I|CLCN3_ENST00000504131.2_Missense_Mutation_p.N160I|CLCN3_ENST00000347613.4_Missense_Mutation_p.N177I NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 177 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TGGGGATCTAATGAAACAACA 0.433000 25 45 0 0 0.003954 0 0 NMI 9111 broad.mit.edu 37 2 152127301 152127301 + Frame_Shift_Del DEL T T - TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr2:152127301delT ENST00000243346.5 - 8 1300 c.830delA c.(829-831)acfs p.N277fs NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 277 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) AAAGTGAATGTTAATTAAATC 0.383 27 52 --- --- --- --- RNF148 378925 broad.mit.edu 37 7 122342533 122342542 + Frame_Shift_Del DEL TTGGTCAAAG TTGGTCAAAG - TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr7:122342533_122342542delTTGGTCAAAG ENST00000434824.1 - 1 479_488 c.263_272delCTTTGACCAA c.(262-273)ctfs p.PLTN88fs CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 88 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 CCTGCTGAAATTGGTCAAAGGATGACAGGC 0.505 14 75 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119274142 119274143 + RNA DEL TT TT - rs66493459 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr11:119274142_119274143delTT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA NR_034160.1 AGTGTTTAAGtttttttttttt 0.342 3 5 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 5 --- --- --- --- RBM11 54033 broad.mit.edu 37 21 15599592 15599593 + Frame_Shift_Ins INS - - T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chr21:15599592_15599593insT ENST00000400577.3 + 5 833_834 c.824_825insT c.(823-825)taafs p.*275fs RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 275 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TTCCGAAAGTCTAAGAAGAAGA 0.327 15 79 --- --- --- --- RBMX 27316 broad.mit.edu 37 X 135961585 135961586 + Translation_Start_Site INS - - T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx aae337d1-38c3-4763-8e43-c68c28e659f2 840b6b8b-631d-4bd1-bb06-a95e335641dc g.chrX:135961585_135961586insT ENST00000570135.1 - 0 155_156 RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Start_Codon_Ins|RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000431446.3_Start_Codon_Ins P38159 HNRPG_HUMAN RNA binding motif protein, X-linked catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.?(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGCTTCAACCATGTTTTTTTTT 0.391 8 50 --- --- --- ---