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 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 86 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114296676 114296676 + Missense_Mutation SNP G G A rs138978572 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:114296676G>A ENST00000545145.2 - 22 2662 c.2584C>T c.(2584-2586)Cgc>Tgc p.R862C RBM19_ENST00000261741.5_Missense_Mutation_p.R862C|RBM19_ENST00000392561.3_Missense_Mutation_p.R862C NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 862 RRM 6. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) TTTGGCAGGCGGACCGTCTTC 0.542000 9 39 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 42 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790536 153790536 + Nonsense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:153790536G>A ENST00000368655.4 - 5 952 c.709C>T c.(709-711)Caa>Taa p.Q237* NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 237 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTCAAATTTTGAGGTTCAACC 0.493000 45 149 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151075043 151075043 + Missense_Mutation SNP A A C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr3:151075043A>C ENST00000474524.1 + 18 2637 c.2599A>C c.(2599-2601)Aaa>Caa p.K867Q P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 867 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTGCTCCTAAAATCCTCCAG 0.423000 14 71 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1044996 1044996 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr10:1044996G>A ENST00000360803.4 + 6 697 c.615G>A c.(613-615)ctG>ctA p.L205L GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 205 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CCAAGTCTCTGTTTGTTGGGC 0.413000 11 26 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 40 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359398 66359398 + Missense_Mutation SNP C C G rs142496256 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr11:66359398C>G ENST00000333861.3 - 1 1156 c.1089G>C c.(1087-1089)aaG>aaC p.K363N NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 363 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCAACTTCATCTTCTTTATCA 0.597000 7 33 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43429943 43429943 + RNA SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr19:43429943C>A ENST00000446844.3 - 0 1314 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTGACTGTCACGGATTTGGAG 0.463000 54 145 7.89702e-26 9.63051e-26 1 1 0 ZNF182 7569 broad.mit.edu 37 X 47836948 47836948 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chrX:47836948C>T ENST00000396965.1 - 7 888 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TATTTATTTTCTGCAGAACTT 0.333000 15 15 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186111652 186111652 + Silent SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr4:186111652C>T ENST00000458385.2 - 2 818 c.699G>A c.(697-699)caG>caA p.Q233Q KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 233 Ser-rich. endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TACTTGAAGGCTGTGTTTCTG 0.428000 4 39 0 0 1 0 0 B4GALT2 8704 broad.mit.edu 37 1 44446882 44446882 + Missense_Mutation SNP T T A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:44446882T>A ENST00000356836.6 + 2 840 c.50T>A c.(49-51)cTc>cAc p.L17H B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 17 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AAGGCTGTGCTCCTTCTCTGC 0.682000 15 39 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139572059 139572059 + Missense_Mutation SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr7:139572059C>A ENST00000263552.6 + 6 656 c.118C>A c.(118-120)Ctg>Atg p.L40M TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 39 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) ATTCTCAAGACTGGAGAAGTT 0.443000 39 161 4.44401e-20 5.29049e-20 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32589885 32589885 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr21:32589885C>T ENST00000286827.3 - 10 2597 c.2126G>A c.(2125-2127)cGg>cAg p.R709Q TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R709Q NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 709 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GATGCTTGGCCGTCCCTGCTT 0.512000 17 107 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6662544 6662544 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr11:6662544C>T ENST00000299441.3 - 2 712 c.301G>A c.(301-303)Gtc>Atc p.V101I NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 101 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGTACGGACGACCCCACTG 0.622000 8 40 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998787 120998787 + Missense_Mutation SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr3:120998787C>A ENST00000273666.6 + 19 2365 c.2094C>A c.(2092-2094)aaC>aaA p.N698K STXBP5L_ENST00000472879.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N698K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 698 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTCGAAAAAACAAACAGTTCA 0.368000 15 56 2.31682e-05 2.4647e-05 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 9 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717134 13717134 + Missense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:13717134G>A ENST00000279593.3 - 13 3247 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1013 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGGACTGGGTGGTGAAGGG 0.577000 14 29 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830119 61830119 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr10:61830119C>T ENST00000280772.1 - 37 10711 c.10520G>A c.(10519-10521)gGc>gAc p.G3507D ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3507 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.G3507V(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGGATGTCTGCCTTCCAGTGT 0.428000 21 97 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190067681 190067681 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:190067681C>T ENST00000367462.3 - 8 1999 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E488K NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 590 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAGCTGTTTTCATTCACAGGC 0.458000 41 130 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43779588 43779588 + Silent SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:43779588C>T ENST00000372476.3 + 14 2437 c.2358C>T c.(2356-2358)atC>atT p.I786I TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I431I NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 786 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGTGTGCATCCGCAGAAGCT 0.632000 13 35 0 0 1 0 0 HDGF 3068 broad.mit.edu 37 1 156714094 156714094 + Missense_Mutation SNP T T C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:156714094T>C ENST00000357325.5 - 4 664 c.350A>G c.(349-351)gAa>gGa p.E117G HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000465180.1_5'UTR NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 117 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CTCTGCAGCTTCGGGCTCTGG 0.592000 25 372 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891645 44891645 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr19:44891645G>A ENST00000330997.4 - 4 826 c.762C>T c.(760-762)caC>caT p.H254H ZNF285_ENST00000544719.2_Silent_p.H254H|ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron 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 TTTCTCCTAGGTGAGTGCTGT 0.433000 9 114 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128114440 128114440 + Missense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr10:128114440G>A ENST00000284694.7 - 9 2213 c.2093C>T c.(2092-2094)gCg>gTg p.A698V C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 698 p.A698V(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TGGTTAGACCGCATTCCTTTG 0.483000 3 36 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830351 130830351 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:130830351C>T ENST00000245255.3 + 4 516 c.244C>T c.(244-246)Cgt>Tgt p.R82C NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 82 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAGAGGAGGTCGTCGTAGAGA 0.363000 17 63 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35810383 35810383 + Splice_Site SNP T T A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr6:35810383T>A ENST00000373825.2 - 14 1906 c.e14-2 SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.?(2) endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TTCAAAGGCCTAAAAAAAAAA 0.418000 4 24 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270738 113270738 + Missense_Mutation SNP G G T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr11:113270738G>T ENST00000303941.3 + 8 2141 c.2047G>T c.(2047-2049)Gca>Tca p.A683S NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 683 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AGAACATCACGCAAATGTCCA 0.632000 8 47 1.06961e-07 1.16262e-07 1 1 0 LRRC37A11P 0 broad.mit.edu 37 17 37186446 37186446 + RNA SNP G G T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr17:37186446G>T ENST00000425901.2 + 0 288 NR_033753.2 AACCCAGCAGGAAGCTGCAGC 0.532000 4 87 0.000602214 0.000614504 1 1 0 ASB2 51676 broad.mit.edu 37 14 94420793 94420793 + Silent SNP G G A rs146382240 byFrequency TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr14:94420793G>A ENST00000555019.1 - 4 778 c.348C>T c.(346-348)ggC>ggT p.G116G ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.G68G NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 68 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CCTCTTCATCGCCATCCTTGA 0.602000 11 36 0 0 1 0 0 SLC25A3 5250 broad.mit.edu 37 12 98995223 98995223 + Missense_Mutation SNP G G A rs11544657 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:98995223G>A ENST00000188376.5 + 7 1357 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M SLC25A3_ENST00000549338.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V298M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V335M|SLC25A3_ENST00000228318.3_Missense_Mutation_p.V336M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000551917.1_Missense_Mutation_p.V336M NM_002635.3|NM_213611.2 NP_002626.1|NP_998776.1 Q00325 MPCP_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 336 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) CTATGACTCCGTGAAGGTCTA 0.468000 4 137 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49042345 49042345 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr3:49042345G>A ENST00000343546.4 + 6 1307 c.939G>A c.(937-939)ccG>ccA p.P313P P4HTM_ENST00000383729.4_Silent_p.P313P NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 313 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) TCAGCGAGCCGCTGCAGGTTG 0.632000 5 43 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130419246 130419246 + Nonsense_Mutation SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chrX:130419246C>A ENST00000370904.1 - 11 1457 c.547G>T c.(547-549)Gag>Tag p.E183* IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 192 Ig-like C2-type 2. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCTTCATCCTCAGGTGTCAGG 0.517000 28 36 3.73988e-18 4.3487e-18 1 1 0 TP63 8626 broad.mit.edu 37 3 189586471 189586471 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr3:189586471G>A ENST00000264731.3 + 8 1184 c.1095G>A c.(1093-1095)tcG>tcA p.S365S TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 365 Interaction with HIPK2. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGCAAGTTTCGGACAGTACAA 0.532000 HNSCC(45;0.13) 14 77 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39724878 39724878 + Missense_Mutation SNP T T C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr17:39724878T>C ENST00000246662.4 - 5 1117 c.1052A>G c.(1051-1053)cAg>cGg p.Q351R KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 351 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ATGCTCGATCTGGGTTATCTG 0.557000 62 182 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 67 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56886920 56886920 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr4:56886920G>A ENST00000257287.4 + 24 3418 c.3294G>A c.(3292-3294)agG>agA p.R1098R NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1098 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CTCTGAAAAGGCAGATCTCAA 0.323000 14 123 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906108 26906108 + Silent SNP C C T rs141361996 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr5:26906108C>T ENST00000231021.4 - 5 943 c.771G>A c.(769-771)acG>acA p.T257T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 257 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T257T(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CATCTGTCAGCGTGATGTTCA 0.463000 10 95 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16952962 16952962 + RNA SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:16952962G>A ENST00000412962.1 - 0 654 GCTTGGTCACGGAGAGCTCGA 0.612000 4 37 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 66 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43696671 43696671 + Missense_Mutation SNP A A G TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr15:43696671A>G ENST00000564079.1 + 17 2149 c.1909A>G c.(1909-1911)Atc>Gtc p.I637V TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V|TUBGCP4_ENST00000399460.3_3'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 638 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GAATCATCAGATCAACTCAGA 0.478000 3 51 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56482346 56482346 + Missense_Mutation SNP A A T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:56482346A>T ENST00000267101.3 + 8 1334 c.894A>T c.(892-894)caA>caT p.Q298H ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 298 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGGTGGATCAAACATCCTGTG 0.507000 19 156 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481841 56481841 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:56481841C>T ENST00000267101.3 + 7 1209 c.769C>T c.(769-771)Cct>Tct p.P257S ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P198S NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 257 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGCCTGTGTACCTCGCTGTCC 0.517000 22 33 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21840819 21840819 + Missense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr7:21840819G>A ENST00000328843.6 + 63 10143 c.10112G>A c.(10111-10113)cGg>cAg p.R3371Q DNAH11_ENST00000409508.3_Missense_Mutation_p.R3364Q Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3371 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAGAAAGTCCGGTGTCAAGAA 0.388000 Kartagener syndrome 4 11 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220428291 220428291 + Frame_Shift_Del DEL G G - rs146306059 by1000genomes TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr2:220428291delG ENST00000404537.1 - 7 2522 c.2466delC c.(2464-2466)tcfs p.S822fs OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S409fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S822fs NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 822 Ig-like 6. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGACACACTCGGAAGTTATGG 0.607 11 107 --- --- --- --- LCORL 254251 broad.mit.edu 37 4 17910904 17910905 + Frame_Shift_Del DEL TA TA - TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr4:17910904_17910905delTA ENST00000382226.5 - 5 602_603 c.494_495delTA c.(493-495)afs p.I165fs LCORL_ENST00000382224.1_Frame_Shift_Del_p.I81fs|LCORL_ENST00000326877.3_Frame_Shift_Del_p.I165fs|LCORL_ENST00000539056.1_Frame_Shift_Del_p.I78fs NM_001166139.1 NP_001159611.1 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 CAAATTGACGTATCATCTTTTT 0.312 16 57 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327916 16327918 + In_Frame_Del DEL TGC TGC - rs28555263 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr6:16327916_16327918delTGC ENST00000244769.4 - 8 1560_1562 c.624_626delGCA c.(622-627)cat>ca p.QH210del ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 210 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgatgctgatgctgctgctgct 0.665 4 9 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494021 65494023 + In_Frame_Del DEL GCA GCA - rs62519837 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr8:65494021_65494023delGCA ENST00000321870.1 + 1 1208_1210 c.674_676delGCA c.(673-678)ggc>g p.GS225del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 225 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1)|p.S226G(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ggcagcggcggcagcagcagcag 0.709 2 4 --- --- --- --- AQP5 362 broad.mit.edu 37 12 50357351 50357360 + Frame_Shift_Del DEL TCGCCTCCAC TCGCCTCCAC - TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:50357351_50357360delTCGCCTCCAC ENST00000293599.6 + 2 588_597 c.440_449delTCGCCTCCAC c.(439-450)ttfs p.FAST147fs NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 147 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 CTCTGCATCTTCGCCTCCACTGACTCCCGC 0.619 10 58 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 3 3 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 3 6 --- --- --- ---