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 AC226119.5 0 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 4 78 0.014758 0.0151464 1 1 0 MYLK 4638 broad.mit.edu 37 3 123419194 123419194 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr3:123419194C>T ENST00000360772.3 - 19 3499 c.3121G>A c.(3121-3123)Gcc>Acc p.A1041T MYLK_ENST00000475616.1_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T Q15746 MYLK_HUMAN myosin light chain kinase 1041 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCAGGCTTGGCGTTGCCCATT 0.552000 5 310 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209185 140209185 + Silent SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr5:140209185G>A ENST00000529310.1 + 1 1623 c.1509G>A c.(1507-1509)gcG>gcA p.A503A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCGCGTTGTCGAGCT 0.672000 24 125 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1019513 1019513 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:1019513C>T ENST00000448924.1 - 10 1261 c.830G>A c.(829-831)cGc>cAc p.R277H C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R277H|C1orf159_ENST00000294576.5_Missense_Mutation_p.R241H|C1orf159_ENST00000379320.1_Missense_Mutation_p.R241H Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 277 Pro-rich. integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TAAAGGGGGGCGGGCAGGGGG 0.657000 7 51 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38807200 38807200 + Splice_Site SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:38807200T>C ENST00000310301.4 - 15 1240 c.e15-2 VPS41_ENST00000395969.2_Splice_Site NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GCCAATATCCTAGAGAAAGCC 0.368000 9 58 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167279862 167279862 + Silent SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr2:167279862G>T ENST00000409855.1 - 18 3060 c.2934C>A c.(2932-2934)atC>atA p.I978I NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 978 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CCAGAATGAAGATATAAGTAA 0.323000 6 50 0.0215528 0.0218327 1 1 0 ZNF641 121274 broad.mit.edu 37 12 48741844 48741844 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr12:48741844C>T ENST00000544117.2 - 2 780 c.72G>A c.(70-72)ggG>ggA p.G24G ZNF641_ENST00000547026.1_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G|ZNF641_ENST00000448928.3_Silent_p.G10G Q96N77 ZN641_HUMAN zinc finger protein 641 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 CCCATCCTGTCCCCAGCGCTG 0.517000 31 62 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4824597 4824597 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:4824597C>T ENST00000348624.4 + 7 943 c.849C>T c.(847-849)gcC>gcT p.A283A AP5Z1_ENST00000401897.1_Silent_p.A283A NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 283 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CCTCCTCTGCCGGCCGCCTGC 0.667000 9 30 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183710344 183710344 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:183710344C>T ENST00000511685.1 + 25 5526 c.5403C>T c.(5401-5403)taC>taT p.Y1801Y TENM3_ENST00000406950.2_Silent_p.Y1801Y teneurin transmembrane protein 3 GGATCGCCTACGACACGTCTG 0.493000 4 27 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139077851 139077851 + Missense_Mutation SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr3:139077851G>A ENST00000333188.5 - 19 2654 c.2473C>T c.(2473-2475)Cca>Tca p.P825S COPB2_ENST00000507777.1_Missense_Mutation_p.P796S NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 825 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GTGACAAGTGGGTATTGTTTG 0.428000 11 117 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17487978 17487978 + Missense_Mutation SNP G G C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:17487978G>C ENST00000252590.4 - 1 181 c.120C>G c.(118-120)atC>atG p.I40M NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 40 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CGAGCCCCAGGATGATGAGGA 0.617000 33 75 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433371 55433371 + Silent SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr11:55433371G>T ENST00000314259.3 + 1 758 c.729G>T c.(727-729)acG>acT p.T243T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CCCACCTCACGGTGGTTGTAT 0.493000 71 111 1.63007e-36 1.86979e-36 1 1 0 MED12 9968 broad.mit.edu 37 X 70348523 70348523 + Missense_Mutation SNP G G C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chrX:70348523G>C ENST00000333646.6 + 24 3629 c.3430G>C c.(3430-3432)Gaa>Caa p.E1144Q MED12_ENST00000374080.3_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1144 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TTTGCTCCTGGAAGATCTGAT 0.468000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 14 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428548 135428548 + Missense_Mutation SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chrX:135428548A>G ENST00000394143.1 + 6 2974 c.2683A>G c.(2683-2685)Acc>Gcc p.T895A GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 895 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) AAAGCTAAGTACCCCATTGGA 0.398000 71 34 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49455030 49455030 + Missense_Mutation SNP C C G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr3:49455030C>G ENST00000273588.3 - 9 1457 c.1155G>C c.(1153-1155)caG>caC p.Q385H AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000395338.2_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 385 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTACAGCCATCTGCTGCTTCC 0.572000 32 137 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763568 92763568 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:92763568C>T ENST00000318238.4 - 5 2933 c.1717G>A c.(1717-1719)Gga>Aga p.G573R SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 573 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTTCCATTCCTTTGAGAGCT 0.353000 17 51 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 27 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646887 54646887 + Missense_Mutation SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:54646887G>A ENST00000406403.1 + 2 1661 c.58G>A c.(58-60)Gag>Aag p.E20K CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 20 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E20K(6) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGGTGTCCGAGGGCGTGGA 0.557000 89 198 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95403027 95403027 + Silent SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr9:95403027G>A ENST00000287996.3 - 8 877 c.601C>T c.(601-603)Ctg>Ttg p.L201L NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 201 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GCCTCCTGCAGCAAACTCTTC 0.448000 4 128 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39826029 39826029 + Silent SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr22:39826029G>A ENST00000216160.6 + 11 1379 c.1317G>A c.(1315-1317)ccG>ccA p.P439P TAB1_ENST00000331454.3_Intron NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 439 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GCCAAAGCCCGACCTTAACCC 0.662000 9 131 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 78 0.000602214 0.000626303 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 80 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97784178 97784178 + Missense_Mutation SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:97784178G>A ENST00000297293.5 + 5 852 c.559G>A c.(559-561)Gaa>Aaa p.E187K NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 187 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAAAAATGGAGAACCTTACTA 0.418000 19 162 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12293501 12293501 + Missense_Mutation SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr16:12293501G>T ENST00000566228.1 + 14 1708 c.1639G>T c.(1639-1641)Gct>Tct p.A547S SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 162 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 ATATGTAGGAGCTGTCCAGAT 0.463000 OREG0006853 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 3 39 1 1 1 1 0 CES1 1066 broad.mit.edu 37 16 55846952 55846952 + Missense_Mutation SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr16:55846952G>T ENST00000422046.2 - 9 1227 c.946C>A c.(946-948)Caa>Aaa p.Q316K CES1_ENST00000360526.3_Missense_Mutation_p.Q317K|CES1_ENST00000361503.4_Missense_Mutation_p.Q316K P23141 EST1_HUMAN carboxylesterase 1 316 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AGAAGGGGTTGACTCTGGGGA 0.547000 18 98 4.96729e-08 5.30752e-08 1 1 0 FLT1 2321 broad.mit.edu 37 13 28919630 28919630 + Silent SNP C C T rs142392658 TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr13:28919630C>T ENST00000282397.4 - 16 2558 c.2307G>A c.(2305-2307)gcG>gcA p.A769A FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 769 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) AGAAGAGAGTCGCAGCCACAC 0.398000 8 18 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215220 141215220 + Splice_Site SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr2:141215220A>G ENST00000389484.3 - 61 10597 c.9625_splice c.e61-1 p.V3209_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3209 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGATTAGGGACTGTAATAGG 0.398000 TSP Lung(27;0.18) 10 116 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26484871 26484871 + Missense_Mutation SNP G G C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:26484871G>C ENST00000295589.3 - 4 855 c.661C>G c.(661-663)Cct>Gct p.P221A NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 221 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) ACAATTCCAGGAATAAGAAAG 0.378000 20 115 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970809 151970809 + Silent SNP A A T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:151970809A>T ENST00000355193.2 - 7 1211 c.993T>A c.(991-993)atT>atA p.I331I KMT2C_ENST00000262189.6_Silent_p.I331I lysine (K)-specific methyltransferase 2C GAGCTTGGTCAATGTGTTCTG 0.393000 9 320 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 79 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65194559 65194559 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr14:65194559C>T ENST00000247226.7 + 2 518 c.210C>T c.(208-210)aaC>aaT p.N70N PLEKHG3_ENST00000394691.1_Silent_p.N70N NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 70 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GCTGGTTGAACGTGAAGGGGC 0.652000 7 39 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324770 3324770 + Silent SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr17:3324770T>C ENST00000291231.1 + 1 909 c.909T>C c.(907-909)aaT>aaC p.N303N NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GCCTCAGAAATACTGATGTTC 0.498000 25 81 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195507220 195507220 + Missense_Mutation SNP G G A rs74208457 TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr3:195507220G>A ENST00000463781.3 - 2 11690 c.11231C>T c.(11230-11232)cCt>cTt p.P3744L MUC4_ENST00000475231.1_Missense_Mutation_p.P3744L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 536 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACAGGAAGAGGGGTGACGTG 0.582000 3 6 0 0 1 0 0 RBM23 0 broad.mit.edu 37 14 23374621 23374621 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr14:23374621C>T ENST00000359890.3 - 7 692 c.497G>A c.(496-498)cGc>cAc p.R166H RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 166 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GAAAACTGTGCGGGCATCACG 0.507000 4 152 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183676360 183676360 + Missense_Mutation SNP A A T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:183676360A>T ENST00000511685.1 + 22 4963 c.4840A>T c.(4840-4842)Agt>Tgt p.S1614C TENM3_ENST00000406950.2_Missense_Mutation_p.S1614C|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CCATGGCAATAGTGGCCTTTT 0.333000 15 34 0 0 1 0 0 DKFZP761J1410 0 broad.mit.edu 37 19 11472140 11472140 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:11472140C>T ENST00000251473.5 + 6 1015 c.639C>T c.(637-639)tgC>tgT p.C213C DKFZP761J1410_ENST00000591608.1_Silent_p.C188C NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 CGGCCCTCTGCGCCTACGCGG 0.697000 9 65 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576180 11576180 + Missense_Mutation SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:11576180A>G ENST00000294484.6 + 6 1849 c.1711A>G c.(1711-1713)Acc>Gcc p.T571A PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 571 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CACCTCCCTGACCACAGCCGC 0.622000 17 74 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30132963 30132963 + Missense_Mutation SNP C C G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr14:30132963C>G ENST00000331968.5 - 4 867 c.638G>C c.(637-639)aGc>aCc p.S213T PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 213 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GCGGATGGTGCTGACCCCAGT 0.488000 26 185 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917771 186917771 + Missense_Mutation SNP C C A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr3:186917771C>A ENST00000312295.4 + 2 735 c.705C>A c.(703-705)aaC>aaA p.N235K RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 235 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CAGGCTGGAACTTCTGCTCTA 0.602000 35 71 2.09667e-21 2.33628e-21 1 1 0 ERO1LB 56605 broad.mit.edu 37 1 236399660 236399660 + Silent SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:236399660G>A ENST00000354619.5 - 7 745 c.544C>T c.(544-546)Ctg>Ttg p.L182L ERO1LB_ENST00000327333.8_3'UTR NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 182 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TCTGGGTTCAGCAATAGGTCT 0.418000 29 131 0 0 1 0 0 PLAA 9373 broad.mit.edu 37 9 26905927 26905927 + Missense_Mutation SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr9:26905927A>G ENST00000397292.3 - 14 2387 c.1970T>C c.(1969-1971)cTg>cCg p.L657P NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 657 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GAGAGCAAGCAGCTGGTTTGC 0.458000 27 56 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116497321 116497321 + Missense_Mutation SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr2:116497321T>C ENST00000410059.1 + 9 1184 c.704T>C c.(703-705)cTc>cCc p.L235P DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000393147.2_Missense_Mutation_p.L239P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 235 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CTAGAGGAACTCCTGCATTCT 0.458000 35 76 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30976074 30976074 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr22:30976074C>T ENST00000402281.1 - 13 1709 c.718G>A c.(718-720)Gac>Aac p.D240N PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N|PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 379 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 CCAGGCCGGTCGACAATCTGA 0.572000 63 143 0 0 1 0 0 ZNF140 7699 broad.mit.edu 37 12 133683237 133683237 + Nonstop_Mutation SNP A A C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr12:133683237A>C ENST00000355557.2 + 5 2657 c.1374A>C c.(1372-1374)tgA>tgC p.*458C ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C NM_003440.2 NP_003431.2 P52738 ZN140_HUMAN zinc finger protein 140 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AACACCAGTGAATTTACACTG 0.343000 16 36 0 0 1 0 0 AACSP1 0 broad.mit.edu 37 5 178194303 178194303 + RNA SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr5:178194303C>T ENST00000503486.2 - 0 1334 NR_024035.1 ATCTGTTTGACGGCAACTTCC 0.522000 5 25 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50943380 50943380 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr22:50943380C>T ENST00000216080.5 - 10 1381 c.1213G>A c.(1213-1215)Ggg>Agg p.G405R LMF2_ENST00000474879.2_Missense_Mutation_p.G430R|LMF2_ENST00000380796.3_Intron Q9BU23 LMF2_HUMAN lipase maturation factor 2 430 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGAGGCGCCCGTGGGTCCCG 0.697000 10 14 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68480780 68480780 + Nonsense_Mutation SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr11:68480780G>T ENST00000255087.5 - 8 1299 c.1116C>A c.(1114-1116)tgC>tgA p.C372* NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 372 CXC 2. cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding p.C372*(1) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CTGACCTCCTGCAGTTGCACC 0.478000 82 196 3.14276e-30 3.55269e-30 1 1 0 UGDH 7358 broad.mit.edu 37 4 39506062 39506062 + Missense_Mutation SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:39506062A>G ENST00000316423.6 - 10 1580 c.1238T>C c.(1237-1239)aTt>aCt p.I413T UGDH_ENST00000501493.2_Missense_Mutation_p.I346T|UGDH_ENST00000506179.1_Missense_Mutation_p.I413T|UGDH_ENST00000507089.1_Missense_Mutation_p.I316T NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 413 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) CTCAGTGCAAATAACAACAGC 0.408000 3 28 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249150721 249150721 + Missense_Mutation SNP C C G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:249150721C>G ENST00000451251.1 - 5 876 c.531G>C c.(529-531)agG>agC p.R177S ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Missense_Mutation_p.R172S|ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) ACCTGGGCAACCTGGCCTCTT 0.527000 9 77 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72400574 72400574 + Silent SNP T T G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:72400574T>G ENST00000395270.1 + 8 1446 c.405T>G c.(403-405)gcT>gcG p.A135A POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000358357.3_Silent_p.A135A|POM121_ENST00000434423.2_Silent_p.A400A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 400 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TGACAGGCGCTTACGCAAGTG 0.512000 68 237 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14774336 14774336 + Silent SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:14774336G>A ENST00000253673.5 - 3 193 c.93C>T c.(91-93)tgC>tgT p.C31C EMR3_ENST00000443157.2_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.C31C NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 31 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CATTTGGGGGGCACTTAGCAC 0.488000 20 46 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79914844 79914844 + Missense_Mutation SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr17:79914844A>G ENST00000409678.3 - 7 1185 c.802T>C c.(802-804)Ttc>Ctc p.F268L NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 268 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TTGTCCAGGAACCAGCCGGAG 0.667000 11 36 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336325 126336325 + Silent SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr4:126336325T>C ENST00000394329.3 + 5 6220 c.6207T>C c.(6205-6207)gtT>gtC p.V2069V FAT4_ENST00000335110.5_Silent_p.V367V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2069 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATACTGTTGTTTTCAAAGCTC 0.393000 4 237 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846785 72846785 + Missense_Mutation SNP G G A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr17:72846785G>A ENST00000293190.5 - 5 1381 c.1235C>T c.(1234-1236)cCc>cTc p.P412L GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 412 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GATGACAAAGGGCCGCTCTTC 0.632000 8 94 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43777678 43777678 + Missense_Mutation SNP G G T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr1:43777678G>T ENST00000372476.3 + 11 1585 c.1506G>T c.(1504-1506)gaG>gaT p.E502D TIE1_ENST00000433781.2_Missense_Mutation_p.E147D NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 502 Fibronectin type-III 1. 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) ACCCCAGTGAGAACGTGACGT 0.597000 22 123 3.28513e-13 3.60901e-13 1 1 0 SBSN 374897 broad.mit.edu 37 19 36015769 36015769 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:36015769C>T ENST00000452271.2 - 2 1724 c.1696G>A c.(1696-1698)Gcc>Acc p.A566T SBSN_ENST00000518157.1_Missense_Mutation_p.A223T NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 223 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACCCCAGAGGCTAACGGCGTG 0.602000 5 29 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457735 15457735 + Silent SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr16:15457735C>T ENST00000360151.4 - 8 833 c.834G>A c.(832-834)gcG>gcA p.A278A NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GATTATCATCCGCTGAGGGTG 0.532000 5 204 0 0 1 0 0 RP11-707M1.1 0 broad.mit.edu 37 11 49598439 49598439 + RNA SNP A A G TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr11:49598439A>G ENST00000527477.1 + 0 1043 GGACCTATGTATCAGCCGTAC 0.413000 15 42 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149430771 149430771 + Missense_Mutation SNP C C T TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:149430771C>T ENST00000255992.10 + 18 3124 c.2725C>T c.(2725-2727)Cgg>Tgg p.R909W KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W|KRBA1_ENST00000485033.2_Missense_Mutation_p.R849W|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 910 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCGCTCGCCGGGCACGTCC 0.662000 3 7 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324771 3324771 + Missense_Mutation SNP A A C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr17:3324771A>C ENST00000291231.1 + 1 910 c.910A>C c.(910-912)Act>Cct p.T304P NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CCTCAGAAATACTGATGTTCA 0.498000 24 82 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41048475 41048475 + Missense_Mutation SNP C C A TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr5:41048475C>A ENST00000399564.4 - 16 2085 c.1635G>T c.(1633-1635)ttG>ttT p.L545F MROH2B_ENST00000506092.2_Missense_Mutation_p.L100F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATAGGTCTACCAATTTTGGGT 0.478000 21 58 1.22574e-08 1.32788e-08 1 1 0 ADAM21 8747 broad.mit.edu 37 14 70924676 70924676 + Missense_Mutation SNP T T C TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr14:70924676T>C ENST00000603540.1 + 2 718 c.460T>C c.(460-462)Ttt>Ctt p.F154L ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 154 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CTCTGCCACATTTGAACACCT 0.423000 19 83 0 0 1 0 0 TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 13 324 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 7 6 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- RP11-941H19.3 0 broad.mit.edu 37 8 81213789 81213792 + RNA DEL CACA CACA - rs71266069 TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr8:81213789_81213792delCACA ENST00000522044.1 + 0 404 CCCCCACCACcacacacacacaca 0.544 2 4 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692968 89692968 + Frame_Shift_Del DEL C C - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr10:89692968delC ENST00000371953.3 + 5 1809 c.452delC c.(451-453)gcfs p.A151fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 151 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCACAAGAGGCCCTAGATTTC 0.378 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 11 75 --- --- --- --- BUD13 84811 broad.mit.edu 37 11 116633428 116633428 + Frame_Shift_Del DEL T T - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr11:116633428delT ENST00000260210.4 - 4 900 c.877delA c.(877-879)gafs p.R293fs BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 293 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTAGAGGCTCTTTCTGGGGCT 0.493 8 210 --- --- --- --- CAPN15 6650 broad.mit.edu 37 16 602648 602648 + Frame_Shift_Del DEL G G - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr16:602648delG ENST00000219611.2 + 12 3144 c.2781delG c.(2779-2781)ccfs p.P928fs LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CCCCAGAGCCGCCGGGCCACG 0.711 2 4 --- --- --- --- GRWD1 83743 broad.mit.edu 37 19 48949711 48949712 + Frame_Shift_Ins INS - - ACTTT TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 737965eb-4771-4559-b50a-0a8a12278942 093d9856-cabb-4d96-8609-b309430a7078 g.chr19:48949711_48949712insACTTT ENST00000253237.5 + 2 490_491 c.257_258insACTTT c.(256-258)actfs p.T86fs NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 86 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) CTTCCTCTTACACTTTACTTGT 0.579 16 85 --- --- --- ---