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 AKAP13 11214 broad.mit.edu 37 15 86198964 86198964 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr15:86198964A>G ENST00000394518.2 + 11 4786 c.4691A>G c.(4690-4692)cAc>cGc p.H1564R AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1564 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TTCCGGAGGCACAGCTGGGGG 0.562000 28 31 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292809 102292809 + RNA SNP C C A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr15:102292809C>A ENST00000561463.1 + 0 855 AACCTGCACTCGCGTGGGAAC 0.602000 3 40 0.000157383 0.000160805 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 8 73 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890950 32890950 + RNA SNP A A G rs151263854 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 ATACACCCAGACCACCACCAC 0.637000 4 56 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144891186 144891186 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144891186G>A ENST00000356994.2 - 15 1714 c.1708C>T c.(1708-1710)Cat>Tat p.H570Y SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000320476.3_Missense_Mutation_p.H570Y NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 570 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTGCGAAATGCACCGTGGGC 0.657000 33 31 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3723762 3723762 + Missense_Mutation SNP T T C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr11:3723762T>C ENST00000324932.7 - 23 3863 c.3443A>G c.(3442-3444)gAa>gGa p.E1148G NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1165 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ATTTTCTAGTTCATGAGAGCC 0.458000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 7 82 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822231 37822231 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822231G>A ENST00000309889.2 + 2 1546 c.373G>A c.(373-375)Ggc>Agc p.G125S TCAP_ENST00000578283.1_Missense_Mutation_p.G101S O15273 TELT_HUMAN titin-cap 125 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGCCCTGGGTGGCCAGTGTGT 0.662000 15 38 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 84 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 51 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084968 17084968 + RNA SNP G G C rs2761533 TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:17084968G>C ENST00000455405.2 - 0 220 p.R472G(1)|p.R503G(1) CACCGATTCCGCAAGCTGACT 0.617000 3 28 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 40 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70117789 70117789 + Nonsense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:70117789G>A ENST00000245479.2 + 1 629 c.257G>A c.(256-258)tGg>tAg p.W86* NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 86 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GGCTACGACTGGACGCTGGTG 0.652000 4 1 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822179 37822179 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822179G>C ENST00000309889.2 + 2 1494 c.321G>C c.(319-321)gaG>gaC p.E107D TCAP_ENST00000578283.1_Missense_Mutation_p.E83D O15273 TELT_HUMAN titin-cap 107 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGGAGCGTGAGGACACCCCCA 0.662000 6 22 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468631 10468631 + Missense_Mutation SNP C C T rs144078596 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10468631C>T ENST00000382483.3 - 4 3200 c.2977G>A c.(2977-2979)Gac>Aac p.D993N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 993 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCCCAGGGTCCACCTCGGGG 0.642000 23 62 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94884143 94884143 + Splice_Site SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:94884143G>A ENST00000370214.4 + 1 133 c.110_splice c.e1+1 p.G37_splice ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000454898.2_Splice_Site_p.G37_splice|ABCD3_ENST00000394233.2_Splice_Site_p.G37_splice|ABCD3_ENST00000315713.5_Splice_Site_p.G37_splice NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 37 Interaction with PEX19.|Targeting to peroxisomes. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CGGCCTGCACGGGTAAGAAGG 0.701000 3 18 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144890795 144890795 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144890795G>A ENST00000356994.2 - 15 2105 c.2099C>T c.(2098-2100)tCt>tTt p.S700F SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 700 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding p.S700F(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGAGGGCGCAGAAACCACGGC 0.652000 25 21 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63042971 63042971 + Missense_Mutation SNP C C G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:63042971C>G ENST00000251157.5 - 18 2107 c.2074G>C c.(2074-2076)Gaa>Caa p.E692Q DOCK7_ENST00000340370.5_Missense_Mutation_p.E692Q NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 692 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GGTGGTTTTTCCAATGAGACT 0.368000 42 53 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179193271 179193271 + Silent SNP G G T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr5:179193271G>T ENST00000292599.3 + 2 1523 c.1260G>T c.(1258-1260)ccG>ccT p.P420P MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 420 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCCACCCCGGCACCAGCCC 0.652000 4 104 0.00024832 0.00024832 1 1 0 WHSC1 7468 broad.mit.edu 37 4 1918661 1918661 + Missense_Mutation SNP G G T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr4:1918661G>T ENST00000503128.1 + 4 1031 c.824G>T c.(823-825)tGg>tTg p.W275L WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382895.3_Missense_Mutation_p.W275L O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 275 PWWP 1. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GAAAGAGCTTGGATATTTGAG 0.408000 T IGH@ MM 12 85 2.27111e-07 2.37205e-07 1 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 7 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169025544 169025544 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr5:169025544A>G ENST00000265295.4 + 9 1376 c.1097A>G c.(1096-1098)tAt>tGt p.Y366C NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GATAACACCTATTATACAGAT 0.343000 47 50 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467864 10467864 + Silent SNP C C A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10467864C>A ENST00000382483.3 - 4 3967 c.3744G>T c.(3742-3744)ggG>ggT p.G1248G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1248 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTTCCAGATCCCCTGGGCTCT 0.552000 23 43 4.26978e-12 4.66697e-12 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10467982 10467982 + Missense_Mutation SNP C C T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:10467982C>T ENST00000382483.3 - 4 3849 c.3626G>A c.(3625-3627)gGc>gAc p.G1209D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1209 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCCCCTGAGCCTCCAGAGCC 0.607000 15 30 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144892898 144892898 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144892898G>A ENST00000356994.2 - 12 1368 c.1362C>T c.(1360-1362)ccC>ccT p.P454P SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000320476.3_Silent_p.P454P NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 454 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CATCACCTATGGGGGCCTCCA 0.662000 58 65 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822068 37822068 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822068G>A ENST00000309889.2 + 2 1383 c.210G>A c.(208-210)cgG>cgA p.R70R TCAP_ENST00000578283.1_Intron O15273 TELT_HUMAN titin-cap 70 R -> W (in CMD1N). adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGATGATGCGGATGGGCATCC 0.662000 8 6 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35387985 35387985 + Missense_Mutation SNP A A G TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr6:35387985A>G ENST00000311565.4 + 5 561 c.212A>G c.(211-213)aAc>aGc p.N71S PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 71 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GGCAGCCTCAACATGGAGTGC 0.652000 3 53 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr7:72685542G>A ENST00000425256.1 - 0 116 NR_002164.1 ACGTTACCATGACAAAAGCAG 0.463000 4 155 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144895531 144895531 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144895531G>C ENST00000356994.2 - 6 523 c.517C>G c.(517-519)Ctg>Gtg p.L173V SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L173V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 173 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCTTGACCAGAAATGACAGG 0.642000 29 55 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822170 37822170 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:37822170G>A ENST00000309889.2 + 2 1485 c.312G>A c.(310-312)gaG>gaA p.E104E TCAP_ENST00000578283.1_Silent_p.E80E O15273 TELT_HUMAN titin-cap 104 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCACCAAGGAGGAGCGTGAGG 0.662000 5 19 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119962585 119962585 + Missense_Mutation SNP T T A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr3:119962585T>A ENST00000464295.1 - 3 580 c.135A>T c.(133-135)ttA>ttT p.L45F GPR156_ENST00000461057.1_Missense_Mutation_p.L45F|GPR156_ENST00000315843.3_Missense_Mutation_p.L45F Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 45 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGACAGGAGATAATGAAGAGA 0.423000 20 7 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144891006 144891006 + Nonsense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144891006G>A ENST00000356994.2 - 15 1894 c.1888C>T c.(1888-1890)Cag>Tag p.Q630* SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.Q630* NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 630 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGCATGCCCTGCAGCAGAGCC 0.667000 53 85 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27918013 27918013 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:27918013G>A ENST00000413272.2 - 8 1169 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated CAGAAGCCCCGCTGGCAGGCT 0.552000 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 17 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25264280 25264280 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr16:25264280G>C ENST00000328086.7 - 3 1468 c.665C>G c.(664-666)cCt>cGt p.P222R NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 222 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGACCCAGCAGGAAGCCGTGT 0.493000 4 157 0 0 1 0 0 GOSR2 9570 broad.mit.edu 37 17 45012514 45012514 + Silent SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr17:45012514G>A ENST00000415811.2 + 5 511 c.456G>A c.(454-456)agG>agA p.R152R RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000393456.2_Silent_p.R152R|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Silent_p.R152R NM_001012511.1 NP_001012529.1 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 152 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) ATGGACTGAGGACCCAGAGAC 0.463000 39 54 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886884 144886884 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144886884G>A ENST00000356994.2 - 21 2869 c.2863C>T c.(2863-2865)Cct>Tct p.P955S SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P955S NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 955 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGCTGGGAGGAAGAGGGCCC 0.697000 11 10 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21226240 21226240 + Missense_Mutation SNP G G A TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr1:21226240G>A ENST00000602326.1 - 14 2382 c.1799C>T c.(1798-1800)tCa>tTa p.S600L EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S594L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000374933.3_5'UTR NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 594 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGTGGAGCCTGAATTAGCATC 0.423000 28 177 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144888620 144888620 + Missense_Mutation SNP G G C TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr8:144888620G>C ENST00000356994.2 - 18 2309 c.2303C>G c.(2302-2304)cCt>cGt p.P768R SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000320476.3_Missense_Mutation_p.P768R NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 768 Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCGGGCCGCAGGGCCTTCCTC 0.657000 6 7 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31622624 31622624 + Missense_Mutation SNP C C T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr20:31622624C>T ENST00000349552.1 + 4 358 c.358C>T c.(358-360)Cgg>Tgg p.R120W NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 120 extracellular region lipid binding AGCCACCAACCGGCTTCTGCG 0.577000 21 37 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr21:11058248G>A ENST00000470054.1 - 0 399 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) GCAGCACAAGGATAATGATAC 0.433000 4 117 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9989643 9989643 + Frame_Shift_Del DEL G G - TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr3:9989643delG ENST00000412055.1 - 4 1343 c.1214delC c.(1213-1215)cafs p.P405fs PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 405 Pro-rich. integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TGGGGGTGCTGGGGGATGGCT 0.602 2 4 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 2 --- --- --- --- LEPREL2 10536 broad.mit.edu 37 12 6948498 6948500 + RNA DEL AGG AGG - TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr12:6948498_6948500delAGG ENST00000251761.8 + 0 2117_2119 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 CAGGAGTCACaggaggaggagga 0.606 2 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a33eeb-0950-4883-a62a-91f4f2ab7f5f e0435371-7d5c-44fb-aae8-2e7796e59898 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- ---