Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 160 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991392 72991392 + Nonsense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr16:72991392G>A ENST00000268489.5 - 2 3325 c.2653C>T c.(2653-2655)Cag>Tag p.Q885* ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 885 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATCATGAACTGGGCGTCCGAG 0.597000 27 62 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049592 11049592 + RNA SNP C C T rs3906134 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr21:11049592C>T ENST00000470054.1 - 0 516 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCGGGCTGTCGCACACTGCA 0.388000 20 184 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15103733 15103733 + Silent SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr10:15103733A>G ENST00000378217.3 + 5 520 c.333A>G c.(331-333)ttA>ttG p.L111L OLAH_ENST00000378228.3_Silent_p.L58L NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 58 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TGCACTCCTTAAGGCTTCCTG 0.428000 14 39 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64900945 64900945 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr11:64900945A>C ENST00000526060.1 - 2 320 c.128T>G c.(127-129)aTg>aGg p.M43R SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 43 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 ACTCACTGCCATGCTGGGGCT 0.632000 7 110 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118790285 118790285 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr6:118790285T>C ENST00000368491.3 - 12 2825 c.2204A>G c.(2203-2205)cAg>cGg p.Q735R CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 735 centrosome CTGAGCACGCTGATTAAGAAT 0.383000 13 72 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645596 45645596 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:45645596C>T ENST00000303230.4 - 2 597 c.540G>A c.(538-540)gtG>gtA p.V180V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 180 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TATCTGATGCCACATTGAAAA 0.373000 18 62 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109286790 109286790 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr12:109286790G>A ENST00000228476.3 + 6 689 c.485G>A c.(484-486)cGg>cAg p.R162Q DAO_ENST00000551281.1_Intron NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 162 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 TTCTTCCAGCGGAAAGTGGAG 0.562000 14 35 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954743 34954743 + Missense_Mutation SNP C C G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:34954743C>G ENST00000382021.2 + 13 1882 c.1655C>G c.(1654-1656)gCa>gGa p.A552G DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 507 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ACAGGTCATGCAAGAGCACCT 0.408000 12 75 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:41266124A>G ENST00000349496.5 + 3 401 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 4 40 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9776015 9776015 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:9776015A>G ENST00000383829.2 + 2 595 c.191A>G c.(190-192)aAg>aGg p.K64R BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 64 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CACAAGAAAAAGGGGCGCCAG 0.572000 3 172 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039298 11039298 + RNA SNP C C T rs3888470 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr21:11039298C>T ENST00000470054.1 - 0 905 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTGTAACGACTTCAATGTTT 0.388000 12 252 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392753 89392753 + RNA SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr11:89392753A>C ENST00000532352.1 + 0 576 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTCTCTACTCAGACCCTGCTG 0.453000 3 67 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 48 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29632680 29632680 + Silent SNP G G A rs4892355 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29632680G>A ENST00000278882.3 + 8 875 c.495G>A c.(493-495)aaG>aaA p.K165K FRG1B_ENST00000358464.4_Silent_p.K165K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTCTTAAAAAGGCTCAGAAAG 0.313000 14 546 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 125 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 58 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645595 45645595 + Missense_Mutation SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:45645595C>A ENST00000303230.4 - 2 598 c.541G>T c.(541-543)Gca>Tca p.A181S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 181 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTATCTGATGCCACATTGAAA 0.373000 19 61 1.90627e-21 2.09689e-21 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 10 150 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38047428 38047428 + Missense_Mutation SNP T T C rs142814627 byFrequency TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:38047428T>C ENST00000283713.6 + 17 2362 c.2096T>C c.(2095-2097)aTt>aCt p.I699T VILL_ENST00000465644.1_Missense_Mutation_p.I417T|VILL_ENST00000383759.2_Missense_Mutation_p.I699T O15195 VILL_HUMAN villin-like 699 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CCCACCTTCATTGGATGGTTC 0.612000 47 88 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115109860 115109860 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr12:115109860T>C ENST00000349155.2 - 7 2921 c.1958A>G c.(1957-1959)aAa>aGa p.K653R TBX3_ENST00000257566.3_Missense_Mutation_p.K673R NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 673 Transcription repression. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGCGGCGACTTTGCCGTCCAG 0.716000 3 4 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151067883 151067883 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:151067883A>G ENST00000474524.1 + 15 2220 c.2182A>G c.(2182-2184)Atc>Gtc p.I728V MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 728 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCGCACAATCCTTCTCTA 0.423000 88 205 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210654289 210654289 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:210654289G>A ENST00000439458.1 + 6 838 c.758G>A c.(757-759)cGg>cAg p.R253Q UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 253 integral to membrane p.R253Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 AGTCAAAGCCGGACCTGTGAA 0.368000 11 117 0 0 1 0 0 CERS4 79603 broad.mit.edu 37 19 8321856 8321856 + Missense_Mutation SNP C C G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr19:8321856C>G ENST00000558331.1 + 9 942 c.483C>G c.(481-483)caC>caG p.H161Q CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q Q9HA82 CERS4_HUMAN ceramide synthase 4 212 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGGTGATACACCACTTCGTGG 0.567000 14 423 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972797 110972797 + Nonsense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr4:110972797C>T ENST00000394607.3 - 5 658 c.495G>A c.(493-495)tgG>tgA p.W165* ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165* Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 165 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TAGTCATGAACCAACCTCCCC 0.522000 18 54 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46261197 46261197 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr10:46261197C>T ENST00000336378.4 + 19 1926 c.1808C>T c.(1807-1809)gCa>gTa p.A603V FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 603 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GAAGAGAAAGCAAAAGCCTCC 0.443000 15 92 0 0 1 0 0 IL4 3565 broad.mit.edu 37 5 132010172 132010172 + Missense_Mutation SNP G G A rs56279116 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:132010172G>A ENST00000231449.2 + 2 222 c.157G>A c.(157-159)Gta>Ata p.V53I IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 53 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CGAGTTGACCGTAACAGACAT 0.498000 3 101 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147781990 147781990 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:147781990G>A ENST00000340253.5 + 5 674 c.506G>A c.(505-507)cGt>cAt p.R169H FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H Q6PIJ6 FBX38_HUMAN F-box protein 38 169 cytoplasm|nucleus p.R169H(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAATTTCGTAATCGTAAT 0.353000 4 78 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389968 129389968 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:129389968T>C ENST00000393238.3 - 4 1056 c.716A>G c.(715-717)cAg>cGg p.Q239R TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 239 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CAGGATCTTCTGCTGCAGGTG 0.527000 31 178 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213186710 213186710 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr1:213186710G>A ENST00000366962.3 - 2 264 c.110C>T c.(109-111)aCa>aTa p.T37I ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 37 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTCCCACGGTGTAGTCCAGTC 0.458000 4 141 0 0 1 0 0 NECAB3 63941 broad.mit.edu 37 20 32248142 32248142 + Silent SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:32248142C>A ENST00000246190.6 - 6 502 c.447G>T c.(445-447)acG>acT p.T149T NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 149 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 GCTGGCTCACCGTCTCCCGCA 0.647000 3 67 0.150653 0.155361 1 1 0 IL7R 3575 broad.mit.edu 37 5 35876450 35876450 + Silent SNP G G C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:35876450G>C ENST00000303115.3 + 8 1371 c.1242G>C c.(1240-1242)acG>acC p.T414T IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 414 T -> M (in dbSNP:rs2229232). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CAAACAGCACGCTGCCCCCTC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 3 69 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487419 131487419 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:131487419C>T ENST00000309926.4 + 1 777 c.695C>T c.(694-696)aCa>aTa p.T232I NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 232 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TTCCTCTGCACAGCTCTCATT 0.572000 18 142 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40744879 40744879 + Splice_Site SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr19:40744879G>A ENST00000392038.2 - 8 939 c.639_splice c.e8-1 p.A214_splice AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 214 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) ATACTTCAGCGCCTGGGGGAT 0.642000 A """ovarian, pancreatic """ 4 105 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 5 131 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54440053 54440053 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr4:54440053G>A ENST00000263925.7 - 2 431 c.117C>T c.(115-117)ctC>ctT p.L39L FIP1L1_ENST00000507166.1_Intron NM_001126328.2 NP_001119800.1 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 39 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGTGGCAGATGAGGTCATCAT 0.572000 17 35 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415297 57415297 + Missense_Mutation SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:57415297G>T ENST00000313949.7 + 1 525 c.136G>T c.(136-138)Gcc>Tcc p.A46S GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCGCGCCCTTGCCACCTCCAA 0.697000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 45 1 1 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73480145 73480145 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr8:73480145C>T ENST00000523207.1 + 2 764 c.176C>T c.(175-177)aCg>aTg p.T59M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 59 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCCCAGGACGCGCCTGGGG 0.537000 27 74 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25820147 25820147 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:25820147C>T ENST00000428257.1 - 2 271 c.164G>A c.(163-165)cGg>cAg p.R55Q NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 55 PUB. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GTTTCCAATCCGGATGGATCT 0.338000 31 72 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55746969 55746969 + Missense_Mutation SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:55746969G>T ENST00000349456.4 + 1 180 c.32G>T c.(31-33)tGg>tTg p.W11L CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L Q96G28 CC104_HUMAN coiled-coil domain containing 104 11 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAGGTGGAGTGGGTAGTGGAG 0.612000 43 94 1.19403e-26 1.3357e-26 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058316 11058316 + RNA SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr21:11058316G>T ENST00000470054.1 - 0 331 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTACAAAATGCACATCGCTG 0.388000 8 211 0.00448238 0.00469583 1 1 0 RAB37 326624 broad.mit.edu 37 17 72736974 72736974 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr17:72736974T>C ENST00000392610.1 + 2 202 c.161T>C c.(160-162)tTc>tCc p.F54S RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000392615.5_Intron Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 54 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GACGGGGCCTTCCTGTCCGGA 0.577000 23 184 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5493806 5493806 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr10:5493806A>C ENST00000355029.4 + 4 411 c.269A>C c.(268-270)aAa>aCa p.K90T NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.K36T NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 90 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCAAGCAATAAAAGAGTTCGA 0.388000 5 125 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564307 33564307 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr11:33564307G>A ENST00000321505.4 + 1 487 c.307G>A c.(307-309)Ggg>Agg p.G103R KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R KIAA1549-like AGTGCACAATGGGGTGTCTTT 0.522000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 23 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120365112 120365112 + Splice_Site SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:120365112A>G ENST00000283871.5 - 9 1109 c.e9+1 NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) ATGAAGATTTACCAATTGGTC 0.453000 23 48 0 0 1 0 0 ULK3 25989 broad.mit.edu 37 15 75134439 75134439 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr15:75134439G>A ENST00000440863.2 - 3 432 c.341C>T c.(340-342)gCg>gTg p.A114V ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V NM_001099436.1 NP_001092906.1 Q6PHR2 ULK3_HUMAN unc-51 like kinase 3 114 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 GAAGACACGCGCCACCTTCTC 0.572000 61 174 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144998994 144998994 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr8:144998994C>T ENST00000322810.4 - 31 5683 c.5514G>A c.(5512-5514)gcG>gcA p.A1838A PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000356346.3_Silent_p.A1687A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1838 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGTGCCTTCCGCCAGCTGCC 0.746000 3 8 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839640 34839640 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr6:34839640A>C ENST00000192788.5 + 20 4306 c.4135A>C c.(4135-4137)Aag>Cag p.K1379Q UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1379 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TAAAAGTGAGAAGAGACAGCC 0.468000 5 40 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916229 86916229 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr4:86916229G>A ENST00000395184.1 + 9 1888 c.1422G>A c.(1420-1422)acG>acA p.T474T ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 474 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding p.T474T(1)|p.T381T(1) breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAATGGGCACGCACAGTGTAC 0.517000 4 105 0 0 1 0 0 METAP2 10988 broad.mit.edu 37 12 95888909 95888909 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr12:95888909T>C ENST00000323666.5 + 6 996 c.767T>C c.(766-768)aTa>aCa p.I256T METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 256 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) GGAACACATATAAGTGGTAAA 0.373000 17 48 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25259959 25259959 + Missense_Mutation SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr12:25259959C>A ENST00000354454.3 + 20 2060 c.1231C>A c.(1231-1233)Cca>Aca p.P411T LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 467 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) GAAAAATAATCCATCAAAGTG 0.373000 13 22 2.31682e-05 2.50673e-05 1 1 0 SLC26A6 65010 broad.mit.edu 37 3 48666102 48666102 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:48666102C>T ENST00000358747.6 - 14 1832 c.1582G>A c.(1582-1584)Gtg>Atg p.V528M SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GCAAAGTACACGGTGGCCGAG 0.612000 3 68 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107954878 107954878 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr6:107954878G>A ENST00000317357.5 + 6 1489 c.830G>A c.(829-831)aGc>aAc p.S277N NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 277 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGGCTGTGCAGCACATTACAC 0.488000 3 85 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155153 12155153 + Silent SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr19:12155153G>T ENST00000602107.1 - 5 1203 c.1204C>A c.(1204-1206)Cga>Aga p.R402R CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.R355R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TCATGTATTCGAAGATCCTTG 0.383000 3 51 1 1 1 1 0 PCF11 51585 broad.mit.edu 37 11 82892950 82892950 + Missense_Mutation SNP T T G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr11:82892950T>G ENST00000298281.4 + 13 4674 c.4222T>G c.(4222-4224)Ttt>Gtt p.F1408V RP11-727A23.4_ENST00000528133.1_RNA NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1408 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAAGAGCCAGTTTTTTGAAAA 0.388000 9 18 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896870 227896870 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:227896870G>A ENST00000396625.3 - 39 3907 c.3700C>T c.(3700-3702)Ccc>Tcc p.P1234S COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1234 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTACCTGGGGGTCCTGGGGGA 0.507000 4 104 0 0 1 0 0 FSHR 0 broad.mit.edu 37 2 49190030 49190030 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:49190030A>G ENST00000406846.2 - 10 2049 c.1930T>C c.(1930-1932)Tgt>Cgt p.C644R FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 644 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TAGCAGCCACACTTGCTCAGC 0.478000 Gonadal Dysgenesis, 46 XX 9 45 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5220066 5220066 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr19:5220066G>A ENST00000372412.4 - 22 3885 c.3652C>T c.(3652-3654)Cca>Tca p.P1218S PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1217 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AACGTGGGTGGCAGCACAGAG 0.647000 4 94 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380382 147380382 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr1:147380382C>T ENST00000240986.4 + 2 353 c.300C>T c.(298-300)gtC>gtT p.V100V GJA8_ENST00000369235.1_Silent_p.V100V NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 100 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGCACTACGTCCGCATGGAGG 0.657000 17 66 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991392 72991392 + Nonsense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr16:72991392G>A ENST00000268489.5 - 2 3325 c.2653C>T c.(2653-2655)Cag>Tag p.Q885* ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 885 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATCATGAACTGGGCGTCCGAG 0.597000 27 62 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15103733 15103733 + Silent SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr10:15103733A>G ENST00000378217.3 + 5 520 c.333A>G c.(331-333)ttA>ttG p.L111L OLAH_ENST00000378228.3_Silent_p.L58L NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 58 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TGCACTCCTTAAGGCTTCCTG 0.428000 14 39 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64900945 64900945 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr11:64900945A>C ENST00000526060.1 - 2 320 c.128T>G c.(127-129)aTg>aGg p.M43R SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 43 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 ACTCACTGCCATGCTGGGGCT 0.632000 7 110 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48666102 48666102 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:48666102C>T ENST00000358747.6 - 14 1832 c.1582G>A c.(1582-1584)Gtg>Atg p.V528M SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GCAAAGTACACGGTGGCCGAG 0.612000 3 68 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645596 45645596 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:45645596C>T ENST00000303230.4 - 2 597 c.540G>A c.(538-540)gtG>gtA p.V180V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 180 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TATCTGATGCCACATTGAAAA 0.373000 18 62 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109286790 109286790 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr12:109286790G>A ENST00000228476.3 + 6 689 c.485G>A c.(484-486)cGg>cAg p.R162Q DAO_ENST00000551281.1_Intron NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 162 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 TTCTTCCAGCGGAAAGTGGAG 0.562000 14 35 0 0 1 0 0 METAP2 10988 broad.mit.edu 37 12 95888909 95888909 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr12:95888909T>C ENST00000323666.5 + 6 996 c.767T>C c.(766-768)aTa>aCa p.I256T METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 256 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) GGAACACATATAAGTGGTAAA 0.373000 17 48 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954743 34954743 + Missense_Mutation SNP C C G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:34954743C>G ENST00000382021.2 + 13 1882 c.1655C>G c.(1654-1656)gCa>gGa p.A552G DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 507 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ACAGGTCATGCAAGAGCACCT 0.408000 12 75 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:41266124A>G ENST00000349496.5 + 3 401 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 4 40 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9776015 9776015 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:9776015A>G ENST00000383829.2 + 2 595 c.191A>G c.(190-192)aAg>aGg p.K64R BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 64 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CACAAGAAAAAGGGGCGCCAG 0.572000 3 172 0 0 1 0 0 NECAB3 63941 broad.mit.edu 37 20 32248142 32248142 + Silent SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr20:32248142C>A ENST00000246190.6 - 6 502 c.447G>T c.(445-447)acG>acT p.T149T NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.T149T NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 149 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 GCTGGCTCACCGTCTCCCGCA 0.647000 3 67 0.150653 0.155675 1 1 0 HCN1 348980 broad.mit.edu 37 5 45645595 45645595 + Missense_Mutation SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:45645595C>A ENST00000303230.4 - 2 598 c.541G>T c.(541-543)Gca>Tca p.A181S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 181 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTATCTGATGCCACATTGAAA 0.373000 19 61 1.90627e-21 2.14888e-21 1 1 0 VILL 50853 broad.mit.edu 37 3 38047428 38047428 + Missense_Mutation SNP T T C rs142814627 byFrequency TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:38047428T>C ENST00000283713.6 + 17 2362 c.2096T>C c.(2095-2097)aTt>aCt p.I699T VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T O15195 VILL_HUMAN villin-like 699 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CCCACCTTCATTGGATGGTTC 0.612000 47 88 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115109860 115109860 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr12:115109860T>C ENST00000349155.2 - 7 2921 c.1958A>G c.(1957-1959)aAa>aGa p.K653R TBX3_ENST00000257566.3_Missense_Mutation_p.K673R NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 673 Transcription repression. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGCGGCGACTTTGCCGTCCAG 0.716000 3 4 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151067883 151067883 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:151067883A>G ENST00000474524.1 + 15 2220 c.2182A>G c.(2182-2184)Atc>Gtc p.I728V MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 728 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCGCACAATCCTTCTCTA 0.423000 88 205 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210654289 210654289 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr2:210654289G>A ENST00000439458.1 + 6 838 c.758G>A c.(757-759)cGg>cAg p.R253Q UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 253 integral to membrane p.R253Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 AGTCAAAGCCGGACCTGTGAA 0.368000 11 117 0 0 1 0 0 CERS4 79603 broad.mit.edu 37 19 8321856 8321856 + Missense_Mutation SNP C C G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr19:8321856C>G ENST00000558331.1 + 9 942 c.483C>G c.(481-483)caC>caG p.H161Q CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q|CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q Q9HA82 CERS4_HUMAN ceramide synthase 4 212 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGGTGATACACCACTTCGTGG 0.567000 14 423 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972797 110972797 + Nonsense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr4:110972797C>T ENST00000394607.3 - 5 658 c.495G>A c.(493-495)tgG>tgA p.W165* ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165* Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 165 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TAGTCATGAACCAACCTCCCC 0.522000 18 54 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46261197 46261197 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr10:46261197C>T ENST00000336378.4 + 19 1926 c.1808C>T c.(1807-1809)gCa>gTa p.A603V FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 603 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GAAGAGAAAGCAAAAGCCTCC 0.443000 15 92 0 0 1 0 0 IL4 3565 broad.mit.edu 37 5 132010172 132010172 + Missense_Mutation SNP G G A rs56279116 TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:132010172G>A ENST00000231449.2 + 2 222 c.157G>A c.(157-159)Gta>Ata p.V53I IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 53 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CGAGTTGACCGTAACAGACAT 0.498000 3 101 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147781990 147781990 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:147781990G>A ENST00000340253.5 + 5 674 c.506G>A c.(505-507)cGt>cAt p.R169H FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H Q6PIJ6 FBX38_HUMAN F-box protein 38 169 cytoplasm|nucleus p.R169H(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAATTTCGTAATCGTAAT 0.353000 4 78 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389968 129389968 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:129389968T>C ENST00000393238.3 - 4 1056 c.716A>G c.(715-717)cAg>cGg p.Q239R TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 239 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CAGGATCTTCTGCTGCAGGTG 0.527000 31 178 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213186710 213186710 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr1:213186710G>A ENST00000366962.3 - 2 264 c.110C>T c.(109-111)aCa>aTa p.T37I ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 37 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTCCCACGGTGTAGTCCAGTC 0.458000 4 141 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 80 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876450 35876450 + Silent SNP G G C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:35876450G>C ENST00000303115.3 + 8 1371 c.1242G>C c.(1240-1242)acG>acC p.T414T IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 414 T -> M (in dbSNP:rs2229232). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CAAACAGCACGCTGCCCCCTC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 3 69 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487419 131487419 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr2:131487419C>T ENST00000309926.4 + 1 777 c.695C>T c.(694-696)aCa>aTa p.T232I NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 232 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TTCCTCTGCACAGCTCTCATT 0.572000 18 142 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40744879 40744879 + Splice_Site SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr19:40744879G>A ENST00000392038.2 - 8 939 c.639_splice c.e8-1 p.A214_splice AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 214 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) ATACTTCAGCGCCTGGGGGAT 0.642000 A """ovarian, pancreatic """ 4 105 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415297 57415297 + Missense_Mutation SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr20:57415297G>T ENST00000313949.7 + 1 525 c.136G>T c.(136-138)Gcc>Tcc p.A46S GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCGCGCCCTTGCCACCTCCAA 0.697000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 45 1 1 1 1 0 LNX1 84708 broad.mit.edu 37 4 54440053 54440053 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr4:54440053G>A ENST00000263925.7 - 2 431 c.117C>T c.(115-117)ctC>ctT p.L39L FIP1L1_ENST00000507166.1_Intron NM_001126328.2 NP_001119800.1 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 39 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGTGGCAGATGAGGTCATCAT 0.572000 17 35 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118790285 118790285 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr6:118790285T>C ENST00000368491.3 - 12 2825 c.2204A>G c.(2203-2205)cAg>cGg p.Q735R CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 735 centrosome CTGAGCACGCTGATTAAGAAT 0.383000 13 72 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480145 73480145 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr8:73480145C>T ENST00000523207.1 + 2 764 c.176C>T c.(175-177)aCg>aTg p.T59M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 59 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCCCAGGACGCGCCTGGGG 0.537000 27 74 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25820147 25820147 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:25820147C>T ENST00000428257.1 - 2 271 c.164G>A c.(163-165)cGg>cAg p.R55Q NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 55 PUB. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GTTTCCAATCCGGATGGATCT 0.338000 31 72 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55746969 55746969 + Missense_Mutation SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr2:55746969G>T ENST00000349456.4 + 1 180 c.32G>T c.(31-33)tGg>tTg p.W11L CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L Q96G28 CC104_HUMAN coiled-coil domain containing 104 11 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAGGTGGAGTGGGTAGTGGAG 0.612000 43 94 1.19403e-26 1.37093e-26 1 1 0 RAB37 326624 broad.mit.edu 37 17 72736974 72736974 + Missense_Mutation SNP T T C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr17:72736974T>C ENST00000392610.1 + 2 202 c.161T>C c.(160-162)tTc>tCc p.F54S RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 54 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GACGGGGCCTTCCTGTCCGGA 0.577000 23 184 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5493806 5493806 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr10:5493806A>C ENST00000355029.4 + 4 411 c.269A>C c.(268-270)aAa>aCa p.K90T NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 90 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCAAGCAATAAAAGAGTTCGA 0.388000 5 125 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564307 33564307 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr11:33564307G>A ENST00000321505.4 + 1 487 c.307G>A c.(307-309)Ggg>Agg p.G103R KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R KIAA1549-like AGTGCACAATGGGGTGTCTTT 0.522000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 23 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120365112 120365112 + Splice_Site SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:120365112A>G ENST00000283871.5 - 9 1109 c.e9+1 NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) ATGAAGATTTACCAATTGGTC 0.453000 23 48 0 0 1 0 0 ULK3 25989 broad.mit.edu 37 15 75134439 75134439 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr15:75134439G>A ENST00000440863.2 - 3 432 c.341C>T c.(340-342)gCg>gTg p.A114V ULK3_ENST00000568667.1_Missense_Mutation_p.A125V|ULK3_ENST00000569437.1_Missense_Mutation_p.A114V NM_001099436.1 NP_001092906.1 Q6PHR2 ULK3_HUMAN unc-51 like kinase 3 114 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(2) 2 GAAGACACGCGCCACCTTCTC 0.572000 61 174 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144998994 144998994 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr8:144998994C>T ENST00000322810.4 - 31 5683 c.5514G>A c.(5512-5514)gcG>gcA p.A1838A PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000357649.2_Silent_p.A1705A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1838 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGTGCCTTCCGCCAGCTGCC 0.746000 3 8 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168012 69168012 + Silent SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:69168012C>A ENST00000420581.2 - 2 1673 c.1494G>T c.(1492-1494)cgG>cgT p.R498R LMOD3_ENST00000489031.1_Silent_p.R498R|LMOD3_ENST00000475434.1_Silent_p.R498R NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 498 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTTCCGGCATCCGAGATTTGC 0.537000 4 30 0.00909568 0.00972297 1 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839640 34839640 + Missense_Mutation SNP A A C TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr6:34839640A>C ENST00000192788.5 + 20 4306 c.4135A>C c.(4135-4137)Aag>Cag p.K1379Q UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1379 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TAAAAGTGAGAAGAGACAGCC 0.468000 5 40 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916229 86916229 + Silent SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr4:86916229G>A ENST00000395184.1 + 9 1888 c.1422G>A c.(1420-1422)acG>acA p.T474T ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 474 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding p.T474T(1)|p.T381T(1) breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAATGGGCACGCACAGTGTAC 0.517000 4 105 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148747813 148747813 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr5:148747813A>G ENST00000514349.1 + 5 1390 c.811A>G c.(811-813)Acc>Gcc p.T271A PCYOX1L_ENST00000274569.4_Missense_Mutation_p.T361A Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 361 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACATCCTTACCACAGATTT 0.557000 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 207 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25259959 25259959 + Missense_Mutation SNP C C A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr12:25259959C>A ENST00000354454.3 + 20 2060 c.1231C>A c.(1231-1233)Cca>Aca p.P411T LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 467 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) GAAAAATAATCCATCAAAGTG 0.373000 13 22 2.31682e-05 2.56505e-05 1 1 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 9 616 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107954878 107954878 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr6:107954878G>A ENST00000317357.5 + 6 1489 c.830G>A c.(829-831)aGc>aAc p.S277N NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 277 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGGCTGTGCAGCACATTACAC 0.488000 3 85 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155153 12155153 + Silent SNP G G T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr19:12155153G>T ENST00000602107.1 - 5 1203 c.1204C>A c.(1204-1206)Cga>Aga p.R402R CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.R355R C9JN71 ZN878_HUMAN zinc finger protein 878 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TCATGTATTCGAAGATCCTTG 0.383000 3 51 1 1 1 1 0 PCF11 51585 broad.mit.edu 37 11 82892950 82892950 + Missense_Mutation SNP T T G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr11:82892950T>G ENST00000298281.4 + 13 4674 c.4222T>G c.(4222-4224)Ttt>Gtt p.F1408V RP11-727A23.4_ENST00000528133.1_RNA NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1408 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAAGAGCCAGTTTTTTGAAAA 0.388000 9 18 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896870 227896870 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr2:227896870G>A ENST00000396625.3 - 39 3907 c.3700C>T c.(3700-3702)Ccc>Tcc p.P1234S COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1234 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTACCTGGGGGTCCTGGGGGA 0.507000 4 104 0 0 1 0 0 FSHR 0 broad.mit.edu 37 2 49190030 49190030 + Missense_Mutation SNP A A G TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr2:49190030A>G ENST00000406846.2 - 10 2049 c.1930T>C c.(1930-1932)Tgt>Cgt p.C644R FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 644 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TAGCAGCCACACTTGCTCAGC 0.478000 Gonadal Dysgenesis, 46 XX 9 45 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5220066 5220066 + Missense_Mutation SNP G G A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr19:5220066G>A ENST00000372412.4 - 22 3885 c.3652C>T c.(3652-3654)Cca>Tca p.P1218S PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1217 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AACGTGGGTGGCAGCACAGAG 0.647000 4 94 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380382 147380382 + Silent SNP C C T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr1:147380382C>T ENST00000240986.4 + 2 353 c.300C>T c.(298-300)gtC>gtT p.V100V GJA8_ENST00000369235.1_Silent_p.V100V NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 100 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGCACTACGTCCGCATGGAGG 0.657000 17 66 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 8 92 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160918876 160918878 + In_Frame_Del DEL CAG CAG - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr2:160918876_160918878delCAG ENST00000283243.7 - 1 243_245 c.37_39delCTG c.(37-39)del p.L13del PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 13 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GCGGCGCCCCcagcagcagcagc 0.729 2 4 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 7 127 --- --- --- --- ASTE1 28990 broad.mit.edu 37 3 130733047 130733047 + Frame_Shift_Del DEL T T - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:130733047delT ENST00000264992.3 - 6 2335 c.1894delA c.(1894-1896)ggfs p.R632fs ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000533801.2_Intron NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 632 DNA repair nuclease activity p.R632fs*33(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 TTCTTCTGCCTTTTTTTTTTT 0.403 10 35 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 7 116 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183479310 183479310 + Frame_Shift_Del DEL T T - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr3:183479310delT ENST00000305135.5 + 14 1867 c.1672delT c.(1672-1674)ttfs p.F558fs NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 558 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGATTCTTTGTTTGCATCTAT 0.388 8 206 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 106 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 4 7 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49416426 49416440 + In_Frame_Del DEL TGCCAATGTACTCGA TGCCAATGTACTCGA - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr12:49416426_49416440delTGCCAATGTACTCGA ENST00000301067.7 - 51 16270_16284 c.16271_16285delTCGAGTACATTGGCA c.(16270-16287)acc>a p.IEYIGT5424del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1) CGAATGATGGTGCCAATGTACTCGATAACCATTGT 0.553 41 343 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 10 214 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - - A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chr20:29628229_29628230insA ENST00000278882.3 + 6 611_612 c.231_232insA c.(229-234)ggaaatfs p.N78fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 12 217 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977190 107977191 + Frame_Shift_Del DEL AT AT - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 573b63e8-ecb6-4c86-932a-fd674800d592 g.chrX:107977190_107977191delAT ENST00000372129.2 - 1 2460_2461 c.2384_2385delAT c.(2383-2385)afs p.N795fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 795 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CACCCTGAGGATTTCTGGGGTT 0.465 20 101 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 3 4 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183479310 183479310 + Frame_Shift_Del DEL T T - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr3:183479310delT ENST00000305135.5 + 14 1867 c.1672delT c.(1672-1674)ttfs p.F558fs NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 558 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGATTCTTTGTTTGCATCTAT 0.388 8 206 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805698 21805700 + In_Frame_Del DEL GGT GGT - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr10:21805698_21805700delGGT ENST00000449193.2 - 4 3304_3306 c.1052_1054delACC c.(1051-1056)cgg>c p.HR351del SKIDA1_ENST00000444772.3_In_Frame_Del_p.HR272del NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 GGCTGGGCCCggtggtggtggtg 0.690 3 5 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49416426 49416440 + In_Frame_Del DEL TGCCAATGTACTCGA TGCCAATGTACTCGA - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr12:49416426_49416440delTGCCAATGTACTCGA ENST00000301067.7 - 51 16270_16284 c.16271_16285delTCGAGTACATTGGCA c.(16270-16287)acc>a p.IEYIGT5424del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1) CGAATGATGGTGCCAATGTACTCGATAACCATTGT 0.553 41 343 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100634394 100634396 + In_Frame_Del DEL GCG GCG - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chr13:100634394_100634396delGCG ENST00000376335.3 + 1 369_371 c.76_78delGCG c.(76-78)del p.A33del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 33 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCACTccgccgcggcggcggcgg 0.759 3 3 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977190 107977191 + Frame_Shift_Del DEL AT AT - TCGA-HC-7738-01A-11D-2114-08 TCGA-HC-7738-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx af73b3d5-51db-4b4d-b56a-196c61830450 ef449499-0238-4585-afc7-fd792d26fe32 g.chrX:107977190_107977191delAT ENST00000372129.2 - 1 2460_2461 c.2384_2385delAT c.(2383-2385)afs p.N795fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 795 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CACCCTGAGGATTTCTGGGGTT 0.465 20 101 --- --- --- ---