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 LCE5A 254910 broad.mit.edu 37 1 152484310 152484310 + Missense_Mutation SNP C C G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr1:152484310C>G ENST00000334269.2 + 2 476 c.300C>G c.(298-300)agC>agG p.S100R NM_178438.4 NP_848525.1 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 100 Cys-rich. keratinization p.S100R(1) lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGGCTCCAGCTGCTGCCACA 0.682 4 9 --- --- --- --- GALNT2 2590 broad.mit.edu 37 1 230338965 230338965 + Silent SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr1:230338965C>T ENST00000366672.4 + 3 375 c.303C>T c.(301-303)cgC>cgT p.R101R GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 101 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R101R(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CTTACGCCCGCAACAAGTTCA 0.552 6 224 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37441066 37441066 + Missense_Mutation SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr2:37441066C>T ENST00000234170.5 - 10 2631 c.2486G>A c.(2485-2487)cGg>cAg p.R829Q AC007390.5_ENST00000438935.2_Intron NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 829 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding p.R829Q(1) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATCTGCATCCCGTTTTTGTTT 0.269 9 42 --- --- --- --- RAPH1 65059 broad.mit.edu 37 2 204304794 204304794 + Missense_Mutation SNP A A G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr2:204304794A>G ENST00000319170.5 - 14 3418 c.3119T>C c.(3118-3120)gTt>gCt p.V1040A RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 1040 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane p.V1040A(2) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTGTTGGAGAACTCCAGGAAG 0.537 53 100 --- --- --- --- COL4A3 1285 broad.mit.edu 37 2 228155518 228155518 + Silent SNP C C A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr2:228155518C>A ENST00000396578.3 + 37 3288 c.3126C>A c.(3124-3126)ggC>ggA p.G1042G AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1042 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G1042G(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GAAGACCAGGCCTCCCAGGTA 0.488 3 61 --- --- --- --- PID1 55022 broad.mit.edu 37 2 229890759 229890759 + Silent SNP T T A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr2:229890759T>A ENST00000392054.3 - 4 675 c.336A>T c.(334-336)ccA>ccT p.P112P PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 114 PID. cytoplasm p.P112P(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GCTCAATGACTGGCTTTTCTG 0.532 10 88 --- --- --- --- KLHL18 23276 broad.mit.edu 37 3 47376266 47376266 + Silent SNP C C A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr3:47376266C>A ENST00000232766.5 + 6 875 c.855C>A c.(853-855)tcC>tcA p.S285S KLHL18_ENST00000455924.2_Silent_p.S173S NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 285 p.S285S(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GCTGCACATCCATCGCTGGAC 0.582 3 54 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568295 99568295 + Missense_Mutation SNP T T G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr3:99568295T>G ENST00000331335.5 - 5 2695 c.2225A>C c.(2224-2226)gAt>gCt p.D742A FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 742 cytoplasm|membrane|myosin complex|nucleus p.D742A(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GACTGAGTGATCTCCCTGGAG 0.408 10 393 --- --- --- --- BCL6 604 broad.mit.edu 37 3 187447645 187447645 + Missense_Mutation SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr3:187447645C>T ENST00000406870.2 - 5 914 c.548G>A c.(547-549)aGc>aAc p.S183N BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 183 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S183N(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ACTGTACAGGCTGGGGGCAAA 0.602 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 30 38 --- --- --- --- PLG 5340 broad.mit.edu 37 6 161139389 161139389 + Missense_Mutation SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr6:161139389G>A ENST00000308192.9 + 8 914 c.851G>A c.(850-852)cGc>cAc p.R284H NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 284 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.R284H(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GAAAACTATCGCGGGAATGTG 0.493 40 170 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41739653 41739653 + Missense_Mutation SNP A A T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr7:41739653A>T ENST00000242208.4 - 2 566 c.320T>A c.(319-321)aTt>aAt p.I107N INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 107 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.I107N(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CCTCCTTCCAATGTCATCCTC 0.562 TSP Lung(11;0.080) 19 758 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99110202 99110202 + Missense_Mutation SNP C C G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr7:99110202C>G ENST00000394170.2 + 3 792 c.541C>G c.(541-543)Ctg>Gtg p.L181V ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 181 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L181V(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCCTCGTCTCCTGGAGGAAAA 0.587 20 35 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149526028 149526028 + RNA SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr7:149526028G>A ENST00000378016.2 + 0 15085 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCTGCAGGGCGAGGAGATGGT 0.667 8 6 --- --- --- --- FANCG 2189 broad.mit.edu 37 9 35076446 35076446 + Missense_Mutation SNP C C A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr9:35076446C>A ENST00000378643.3 - 8 1550 c.1059G>T c.(1057-1059)agG>agT p.R353S FANCG_ENST00000476212.1_Intron NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 353 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding p.R353S(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTGTAGGCACCTGCTTGCTA 0.532 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 9 105 --- --- --- --- SMC2 10592 broad.mit.edu 37 9 106889711 106889711 + Missense_Mutation SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr9:106889711G>A ENST00000286398.7 + 20 3028 c.2740G>A c.(2740-2742)Gac>Aac p.D914N SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 914 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity p.D914N(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TAAGGAATTAGACCACAACAT 0.363 53 82 --- --- --- --- UBAC1 10422 broad.mit.edu 37 9 138837764 138837764 + Missense_Mutation SNP G G C TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr9:138837764G>C ENST00000371756.3 - 6 841 c.624C>G c.(622-624)aaC>aaG p.N208K NM_016172.2 NP_057256.2 Q9BSL1 UBAC1_HUMAN UBA domain containing 1 208 UBA 1. Golgi apparatus|plasma membrane protein binding p.N208K(1) NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) TGGTGGCTCTGTTCTCCGGAA 0.662 14 46 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89690802 89690802 + Splice_Site SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr10:89690802G>A ENST00000371953.3 + 4 1566 c.e4-1 NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 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.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|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) TTTTCTTTTAGTTGTGCTGAA 0.303 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) 32 23 --- --- --- --- CRTAC1 55118 broad.mit.edu 37 10 99642555 99642555 + Missense_Mutation SNP C C A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr10:99642555C>A ENST00000370597.3 - 13 2018 c.1663G>T c.(1663-1665)Ggc>Tgc p.G555C CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 555 proteinaceous extracellular matrix calcium ion binding p.G555C(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) ATGCAATGGCCATTTTCCTGC 0.577 17 33 --- --- --- --- ENTPD7 57089 broad.mit.edu 37 10 101455823 101455823 + Silent SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr10:101455823C>T ENST00000370489.4 + 9 1132 c.954C>T c.(952-954)aaC>aaT p.N318N NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 318 cytoplasmic vesicle membrane|integral to membrane hydrolase activity p.N318N(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TCGGAGGCAACTTTGCCCGGC 0.453 11 169 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20101630 20101630 + Missense_Mutation SNP G G T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:20101630G>T ENST00000396085.1 + 25 5561 c.5200G>T c.(5200-5202)Gca>Tca p.A1734S NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1790 nucleus ATP binding|helicase activity p.A1790S(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGCCCAGTCTGCAGACCTCCG 0.562 13 39 --- --- --- --- TCN1 6947 broad.mit.edu 37 11 59633903 59633903 + Missense_Mutation SNP A A G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:59633903A>G ENST00000257264.3 - 1 145 c.41T>C c.(40-42)cTg>cCg p.L14P TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 14 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding p.L14P(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAAGAAAACAGTAAGAGCCC 0.413 49 109 --- --- --- --- EML3 256364 broad.mit.edu 37 11 62378665 62378665 + Missense_Mutation SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:62378665G>A ENST00000394773.2 - 3 653 c.346C>T c.(346-348)Cct>Tct p.P116S EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 116 cytoplasm|microtubule protein binding p.P116S(1) biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GTCCCGCTAGGCTCTTCGCTG 0.697 4 30 --- --- --- --- MAML2 84441 broad.mit.edu 37 11 95712225 95712225 + Missense_Mutation SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:95712225G>A ENST00000524717.1 - 5 4642 c.3358C>T c.(3358-3360)Cct>Tct p.P1120S NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1120 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.P1120S(1) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TTTAGGGCAGGGCCCATGTTA 0.423 T """MECT1, CRTC3""" salivary gland mucoepidermoid 27 133 --- --- --- --- SIDT2 51092 broad.mit.edu 37 11 117052139 117052139 + Missense_Mutation SNP G G C TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:117052139G>C ENST00000324225.4 + 2 722 c.191G>C c.(190-192)gGc>gCc p.G64A SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 64 integral to membrane|lysosomal membrane p.G64A(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CAGACAGAGGGCGTGCGTGTG 0.597 OREG0021368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 42 --- --- --- --- CCDC15 80071 broad.mit.edu 37 11 124857794 124857794 + Nonsense_Mutation SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr11:124857794C>T ENST00000529051.1 + 8 1931 c.1672C>T c.(1672-1674)Cag>Tag p.Q558* CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558* Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 558 centrosome p.Q558*(2) central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) ACCCAAATGTCAGGACCAGGA 0.433 16 481 --- --- --- --- FGFR1OP2 26127 broad.mit.edu 37 12 27107226 27107226 + Splice_Site SNP G G T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr12:27107226G>T ENST00000229395.3 + 2 477 c.135G>T c.(133-135)caG>caT p.Q45H FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H NM_015633.2 NP_056448.1 Q9NVK5 FGOP2_HUMAN FGFR1 oncogene partner 2 45 cytoplasm p.Q45H(1) cervix(1)|large_intestine(4)|lung(1)|prostate(2) 8 Colorectal(261;0.0847) CCATGAAACAGGTTTGATTTT 0.348 3 65 --- --- --- --- ZNF641 121274 broad.mit.edu 37 12 48737263 48737263 + Silent SNP C C A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr12:48737263C>A ENST00000544117.2 - 6 1518 c.810G>T c.(808-810)ggG>ggT p.G270G ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G Q96N77 ZN641_HUMAN zinc finger protein 641 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.G270G(1) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 CAAACTGTTTCCCACACTGGG 0.527 6 123 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120615277 120615277 + Silent SNP G G A TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr12:120615277G>A ENST00000300648.6 - 9 823 c.811C>T c.(811-813)Ctg>Ttg p.L271L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 271 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.L271L(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGACTCCTCAGTAAGGACTTC 0.448 19 66 --- --- --- --- METTL3 56339 broad.mit.edu 37 14 21971365 21971365 + Nonstop_Mutation SNP A A C TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr14:21971365A>C ENST00000538267.1 - 4 576 c.460T>G c.(460-462)Tag>Gag p.*154E METTL3_ENST00000298717.4_Missense_Mutation_p.I225R Q86U44 MTA70_HUMAN methyltransferase like 3 0 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding p.I225R(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) AAGGCTCTCTATCTCCAGATC 0.443 97 210 --- --- --- --- SPSB3 90864 broad.mit.edu 37 16 1831441 1831441 + Missense_Mutation SNP A A G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr16:1831441A>G ENST00000566339.1 - 2 374 c.44T>C c.(43-45)cTg>cCg p.L15P SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 15 intracellular signal transduction p.L15P(1) endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 GGCTGCACTCAGGACGAAGTG 0.617 16 19 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57756742 57756742 + Missense_Mutation SNP A A G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr16:57756742A>G ENST00000360716.3 + 11 1618 c.1397A>G c.(1396-1398)gAg>gGg p.E466G CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G Q8IY82 CC135_HUMAN coiled-coil domain containing 135 466 cytoplasm p.E466G(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 ACCACCTATGAGGACTTGCAG 0.597 3 75 --- --- --- --- AFG3L2 10939 broad.mit.edu 37 18 12340252 12340252 + Missense_Mutation SNP G G T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr18:12340252G>T ENST00000269143.3 - 15 2159 c.1928C>A c.(1927-1929)aCa>aAa p.T643K NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 643 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.T643K(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) AGCACCAGTTGTAATTCTTCC 0.393 10 272 --- --- --- --- SLC5A5 6528 broad.mit.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr19:18001748C>T ENST00000222248.3 + 14 2052 c.1705C>T c.(1705-1707)Cgg>Tgg p.R569W NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 569 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity p.R569W(1) NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGACCTCGCACGGCAGACAGC 0.602 76 154 --- --- --- --- FTCD 10841 broad.mit.edu 37 21 47570139 47570139 + Nonsense_Mutation SNP G G T TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr21:47570139G>T ENST00000397748.1 - 7 843 c.800C>A c.(799-801)tCa>tAa p.S267* FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000291670.5_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267* O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 267 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity p.S267*(1) endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CACCAGCTGTGAGCCCACCAC 0.672 3 18 --- --- --- --- PPEF1 5475 broad.mit.edu 37 X 18842131 18842131 + Missense_Mutation SNP A A G TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chrX:18842131A>G ENST00000361511.4 + 17 2086 c.1592A>G c.(1591-1593)aAc>aGc p.N531S PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 531 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity p.N531S(1) breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) AATCTGGTAAACATAGACCAA 0.423 97 51 --- --- --- --- PCDHGB3 56102 broad.mit.edu 37 5 140751730 140751739 + Frame_Shift_Del DEL AGGTGGTGGC AGGTGGTGGC - TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr5:140751730_140751739delAGGTGGTGGC ENST00000576222.1 + 1 1900_1909 c.1769_1778delAGGTGGTGGC c.(1768-1779)aaggtggtggcgfs p.KVVA590fs PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGACCAAGGTGGTGGCGGTGGACGCA 0.657 20 81 --- --- --- --- B3GNT4 79369 broad.mit.edu 37 12 122691205 122691209 + Frame_Shift_Del DEL CTATC CTATC - TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr12:122691205_122691209delCTATC ENST00000535274.1 + 1 2059_2063 c.332_336delCTATC c.(331-336)gctatcfs p.AI111fs B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 136 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.I137M(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CGACGTGCGGCTATCCGCAGCACGT 0.629 9 169 --- --- --- --- B3GNT4 79369 broad.mit.edu 37 12 122691220 122691221 + Frame_Shift_Ins INS - - CT TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4 8b462258-f66d-4893-a6f8-245278d1ce9d g.chr12:122691220_122691221insCT ENST00000535274.1 + 1 2074_2075 c.347_348insCT c.(346-351)tggggcfs p.WG116fs B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.WG141fs Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 141 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CGCAGCACGTGGGGCAGGGTGG 0.644 22 131 --- --- --- ---